CDC42 | ENSG00000070831 | NCBI 998

Details for: CDC42

Associated with

Adaptive immune system
(R-HSA-1280218)
Axon guidance
(R-HSA-422475)
Cd28 co-stimulation
(R-HSA-389356)
Cd28 dependent vav1 pathway
(R-HSA-389359)
Cdc42 gtpase cycle
(R-HSA-9013148)
Costimulation by the cd28 family
(R-HSA-388841)
Cytokine signaling in immune system
(R-HSA-1280215)
Dcc mediated attractive signaling
(R-HSA-418885)
Developmental biology
(R-HSA-1266738)
Disease
(R-HSA-1643685)
Egfr downregulation
(R-HSA-182971)
Eph-ephrin signaling
(R-HSA-2682334)
Ephb-mediated forward signaling
(R-HSA-3928662)
Factors involved in megakaryocyte development and platelet production
(R-HSA-983231)
Fcgamma receptor (fcgr) dependent phagocytosis
(R-HSA-2029480)
Fcgr3a-mediated phagocytosis
(R-HSA-9664422)
G-protein beta:gamma signalling
(R-HSA-397795)
G beta:gamma signalling through cdc42
(R-HSA-8964616)
Gene and protein expression by jak-stat signaling after interleukin-12 stimulation
(R-HSA-8950505)
Gpcr downstream signalling
(R-HSA-388396)
Gpvi-mediated activation cascade
(R-HSA-114604)
Hemostasis
(R-HSA-109582)
Immune system
(R-HSA-168256)
Inactivation of cdc42 and rac1
(R-HSA-428543)
Infectious disease
(R-HSA-5663205)
Innate immune system
(R-HSA-168249)
Interleukin-12 family signaling
(R-HSA-447115)
Interleukin-12 signaling
(R-HSA-9020591)
Leishmania infection
(R-HSA-9658195)
Leishmania phagocytosis
(R-HSA-9664417)
Mapk6/mapk4 signaling
(R-HSA-5687128)
Mapk family signaling cascades
(R-HSA-5683057)
Myogenesis
(R-HSA-525793)
Nervous system development
(R-HSA-9675108)
Netrin-1 signaling
(R-HSA-373752)
Parasite infection
(R-HSA-9664407)
Parasitic infection pathways
(R-HSA-9824443)
Platelet activation, signaling and aggregation
(R-HSA-76002)
Rac1 gtpase cycle
(R-HSA-9013149)
Rac2 gtpase cycle
(R-HSA-9013404)
Rac3 gtpase cycle
(R-HSA-9013423)
Regulation of actin dynamics for phagocytic cup formation
(R-HSA-2029482)
Rhog gtpase cycle
(R-HSA-9013408)
Rho gtpase cycle
(R-HSA-9012999)
Rho gtpase effectors
(R-HSA-195258)
Rho gtpases activate formins
(R-HSA-5663220)
Rho gtpases activate iqgaps
(R-HSA-5626467)
Rho gtpases activate ktn1
(R-HSA-5625970)
Rho gtpases activate paks
(R-HSA-5627123)
Rho gtpases activate wasps and waves
(R-HSA-5663213)
Rhoj gtpase cycle
(R-HSA-9013409)
Rhoq gtpase cycle
(R-HSA-9013406)
Rhou gtpase cycle
(R-HSA-9013420)
Rhov gtpase cycle
(R-HSA-9013424)
Signaling by egfr
(R-HSA-177929)
Signaling by gpcr
(R-HSA-372790)
Signaling by interleukins
(R-HSA-449147)
Signaling by receptor tyrosine kinases
(R-HSA-9006934)
Signaling by rho gtpases
(R-HSA-194315)
Signaling by rho gtpases, miro gtpases and rhobtb3
(R-HSA-9716542)
Signaling by robo receptors
(R-HSA-376176)
Signaling by vegf
(R-HSA-194138)
Signal transduction
(R-HSA-162582)
Vegfa-vegfr2 pathway
(R-HSA-4420097)
Actin cytoskeleton organization
(GO:0030036)
Actin filament branching
(GO:0090135)
Actin filament organization
(GO:0007015)
Adherens junction organization
(GO:0034332)
Apical part of cell
(GO:0045177)
Apolipoprotein a-i receptor binding
(GO:0034191)
Cardiac conduction system development
(GO:0003161)
Cardiac neural crest cell migration involved in outflow tract morphogenesis
(GO:0003253)
Cdc42 protein signal transduction
(GO:0032488)
Cell-cell junction
(GO:0005911)
Cell junction assembly
(GO:0034329)
Cellular response to type ii interferon
(GO:0071346)
Centrosome
(GO:0005813)
Cytoplasm
(GO:0005737)
Cytoplasmic ribonucleoprotein granule
(GO:0036464)
Cytosol
(GO:0005829)
Dendritic cell migration
(GO:0036336)
Dendritic spine
(GO:0043197)
Dendritic spine morphogenesis
(GO:0060997)
Embryonic heart tube development
(GO:0035050)
Endocytosis
(GO:0006897)
Endoplasmic reticulum membrane
(GO:0005789)
Endothelin receptor signaling pathway involved in heart process
(GO:0086101)
Establishment of cell polarity
(GO:0030010)
Establishment of epithelial cell apical/basal polarity
(GO:0045198)
Establishment of golgi localization
(GO:0051683)
Establishment or maintenance of cell polarity
(GO:0007163)
Extracellular exosome
(GO:0070062)
Filopodium
(GO:0030175)
Filopodium assembly
(GO:0046847)
Focal adhesion
(GO:0005925)
Gbd domain binding
(GO:0032427)
Glutamatergic synapse
(GO:0098978)
Golgi membrane
(GO:0000139)
Golgi organization
(GO:0007030)
Golgi transport complex
(GO:0017119)
G protein activity
(GO:0003925)
Gtp-dependent protein binding
(GO:0030742)
Gtpase activity
(GO:0003924)
Gtp binding
(GO:0005525)
Heart contraction
(GO:0060047)
Identical protein binding
(GO:0042802)
Integrin-mediated signaling pathway
(GO:0007229)
Leading edge membrane
(GO:0031256)
Macrophage differentiation
(GO:0030225)
Membrane
(GO:0016020)
Midbody
(GO:0030496)
Mitogen-activated protein kinase kinase kinase binding
(GO:0031435)
Mitotic spindle
(GO:0072686)
Modulation by host of viral process
(GO:0044788)
Negative regulation of protein-containing complex assembly
(GO:0031333)
Neuronal cell body
(GO:0043025)
Neuron fate determination
(GO:0048664)
Neuron projection
(GO:0043005)
Neuropilin signaling pathway
(GO:0038189)
Nuclear migration
(GO:0007097)
Organelle transport along microtubule
(GO:0072384)
Phagocytic vesicle
(GO:0045335)
Phagocytosis, engulfment
(GO:0006911)
Plasma membrane
(GO:0005886)
Positive regulation of cell growth
(GO:0030307)
Positive regulation of cell migration
(GO:0030335)
Positive regulation of cytokinesis
(GO:0032467)
Positive regulation of dna replication
(GO:0045740)
Positive regulation of epithelial cell proliferation involved in lung morphogenesis
(GO:0060501)
Positive regulation of filopodium assembly
(GO:0051491)
Positive regulation of intracellular protein transport
(GO:0090316)
Positive regulation of jnk cascade
(GO:0046330)
Positive regulation of lamellipodium assembly
(GO:0010592)
Positive regulation of neuron apoptotic process
(GO:0043525)
Positive regulation of phosphatidylinositol 3-kinase/protein kinase b signal transduction
(GO:0051897)
Positive regulation of pinocytosis
(GO:0048549)
Positive regulation of pseudopodium assembly
(GO:0031274)
Positive regulation of stress fiber assembly
(GO:0051496)
Positive regulation of substrate adhesion-dependent cell spreading
(GO:1900026)
Positive regulation of synapse structural plasticity
(GO:0051835)
Protein-containing complex
(GO:0032991)
Protein binding
(GO:0005515)
Protein kinase binding
(GO:0019901)
Protein localization
(GO:0008104)
Regulation of actin cytoskeleton organization
(GO:0032956)
Regulation of attachment of spindle microtubules to kinetochore
(GO:0051988)
Regulation of filopodium assembly
(GO:0051489)
Regulation of lamellipodium assembly
(GO:0010591)
Regulation of mitotic nuclear division
(GO:0007088)
Regulation of modification of postsynaptic structure
(GO:0099159)
Regulation of postsynapse organization
(GO:0099175)
Regulation of stress fiber assembly
(GO:0051492)
Schaffer collateral - ca1 synapse
(GO:0098685)
Secretory granule
(GO:0030141)
Spindle midzone
(GO:0051233)
Sprouting angiogenesis
(GO:0002040)
Storage vacuole
(GO:0000322)
Submandibular salivary gland formation
(GO:0060661)
Substantia nigra development
(GO:0021762)
Thioesterase binding
(GO:0031996)
Ubiquitin protein ligase activity
(GO:0061630)
Wnt signaling pathway, planar cell polarity pathway
(GO:0060071)

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

CD14-low, CD16-positive monocyte CL0002396

CSI 124.87

rCSI 96.2%

PRS 4.31
hematopoietic stem cell CL0000037

CSI 91.42

rCSI 60.76%

PRS 5.69
ciliated epithelial cell CL0000067

CSI 88.44

rCSI 77.77%

PRS 3.45
CD16-positive, CD56-dim natural killer cell, human CL0000939

CSI 86.12

rCSI 57.4%

PRS 13.45
myeloid leukocyte CL0000766

CSI 73.29

rCSI 67.62%

PRS 4.83
keratinocyte CL0000312

CSI 73.27

rCSI 61.42%

PRS 5.74
granulocyte monocyte progenitor cell CL0000557

CSI 70.25

rCSI 60.83%

PRS 5.31
extravillous trophoblast CL0008036

CSI 69.44

rCSI 85.91%

PRS 4.19
fallopian tube secretory epithelial cell CL4030006

CSI 69.31

rCSI 66.72%

PRS 4.94
elicited macrophage CL0000861

CSI 64.76

rCSI 59.46%

PRS 5.46
megakaryocyte-erythroid progenitor cell CL0000050

CSI 64.74

rCSI 58.46%

PRS 4.21
intestinal epithelial cell CL0002563

CSI 64.57

rCSI 67.48%

PRS 5.07
CD4-positive helper T cell CL0000492

CSI 63.2

rCSI 47.81%

PRS 6.71
plasmablast CL0000980

CSI 62.11

rCSI 48.86%

PRS 5.69
CD16-negative, CD56-bright natural killer cell, human CL0000938

CSI 61.83

rCSI 46.36%

PRS 14.45
pancreatic A cell CL0000171

CSI 61.22

rCSI 64.13%

PRS 5.11
group 3 innate lymphoid cell CL0001071

CSI 59.49

rCSI 44.7%

PRS 4.92
lung ciliated cell CL1000271

CSI 58.86

rCSI 68.06%

PRS 3.47
stem cell CL0000034

CSI 55.96

rCSI 53.96%

PRS 2.59
placental villous trophoblast CL2000060

CSI 54.52

rCSI 84.24%

PRS 4.48
common myeloid progenitor CL0000049

CSI 54.45

rCSI 44.03%

PRS 4.69
peripheral nervous system neuron CL2000032

CSI 52.66

rCSI 71.75%

PRS 4.32
CD1c-positive myeloid dendritic cell CL0002399

CSI 52.04

rCSI 62.86%

PRS 5.61
central memory CD4-positive, alpha-beta T cell CL0000904

CSI 51.86

rCSI 30.63%

PRS 6.69
pancreatic D cell CL0000173

CSI 49.9

rCSI 49.08%

PRS 5.22
conventional dendritic cell CL0000990

CSI 48.29

rCSI 40.31%

PRS 15.59
epithelial cell of lung CL0000082

CSI 47.43

rCSI 39.32%

PRS 4.52
Hofbauer cell CL3000001

CSI 47.29

rCSI 89.28%

PRS 5.95
classical monocyte CL0000860

CSI 47.16

rCSI 69.91%

PRS 47.85
T-helper 17 cell CL0000899

CSI 45.54

rCSI 36.16%

PRS 8.52
pancreatic ductal cell CL0002079

CSI 44.76

rCSI 87.06%

PRS 4.87
promonocyte CL0000559

CSI 44.3

rCSI 75.89%

PRS 6.39
colon epithelial cell CL0011108

CSI 44.21

rCSI 46.31%

PRS 4.45
non-classical monocyte CL0000875

CSI 43.84

rCSI 70.26%

PRS 15.91
pancreatic acinar cell CL0002064

CSI 43.41

rCSI 57.7%

PRS 5.22
epithelial cell of lower respiratory tract CL0002632

CSI 42.56

rCSI 33%

PRS 4.54
class switched memory B cell CL0000972

CSI 41.93

rCSI 31.3%

PRS 8.1
enterocyte CL0000584

CSI 40.91

rCSI 65.97%

PRS 7.77
promyelocyte CL0000836

CSI 37.64

rCSI 54.29%

PRS 6.64
alveolar macrophage CL0000583

CSI 37.32

rCSI 61.47%

PRS 5.6
M cell of gut CL0000682

CSI 36.44

rCSI 38.71%

PRS 8.56
mucous neck cell CL0000651

CSI 35.16

rCSI 50.67%

PRS 7.74
early lymphoid progenitor CL0000936

CSI 34.94

rCSI 30.69%

PRS 5.34
CD14-positive, CD16-positive monocyte CL0002397

CSI 34.66

rCSI 45.42%

PRS 6.69
mature NK T cell CL0000814

CSI 34.34

rCSI 43.92%

PRS 21.99
dendritic cell, human CL0001056

CSI 34.34

rCSI 52.74%

PRS 5.54
secretory cell CL0000151

CSI 33.97

rCSI 35.45%

PRS 4.88
enteric smooth muscle cell CL0002504

CSI 33.86

rCSI 48.33%

PRS 5.44
common dendritic progenitor CL0001029

CSI 33.68

rCSI 42.27%

PRS 6.06
fraction A pre-pro B cell CL0002045

CSI 30.9

rCSI 35.37%

PRS 9.94
central memory CD8-positive, alpha-beta T cell CL0000907

CSI 30.55

rCSI 20.59%

PRS 5.8
common lymphoid progenitor CL0000051

CSI 30.49

rCSI 40.74%

PRS 9.16
epithelial cell CL0000066

CSI 30.4

rCSI 46.71%

PRS 6.9
naive thymus-derived CD8-positive, alpha-beta T cell CL0000900

CSI 29.73

rCSI 20.88%

PRS 14.22
OFF-bipolar cell CL0000750

CSI 29.45

rCSI 40.27%

PRS 8.4
goblet cell CL0000160

CSI 29.37

rCSI 27.75%

PRS 4.98
CD14-positive monocyte CL0001054

CSI 27.78

rCSI 34.6%

PRS 6.99
naive thymus-derived CD4-positive, alpha-beta T cell CL0000895

CSI 27.62

rCSI 34.71%

PRS 25.41
dendritic cell CL0000451

CSI 27.47

rCSI 33.85%

PRS 16.12
T-helper 1 cell CL0000545

CSI 27.42

rCSI 49.5%

PRS 14.49
intestine goblet cell CL0019031

CSI 27.18

rCSI 24.13%

PRS 4.78
colon goblet cell CL0009039

CSI 27.07

rCSI 64.36%

PRS 7.28
endothelial cell of artery CL1000413

CSI 26.93

rCSI 39.45%

PRS 28.66
mature T cell CL0002419

CSI 26.47

rCSI 20.59%

PRS 6.87
foveolar cell of stomach CL0002179

CSI 26.43

rCSI 56.26%

PRS 7.76
neural crest cell CL0011012

CSI 26.29

rCSI 20.78%

PRS 3.3
plasmacytoid dendritic cell, human CL0001058

CSI 26.07

rCSI 18.2%

PRS 5.04
microcirculation associated smooth muscle cell CL0008035

CSI 25.73

rCSI 74.48%

PRS 5.41
Langerhans cell CL0000453

CSI 25.58

rCSI 39.07%

PRS 8.39
mature B cell CL0000785

CSI 25.49

rCSI 22.16%

PRS 5.88
memory B cell CL0000787

CSI 24.93

rCSI 24.61%

PRS 20.74
monocyte CL0000576

CSI 24.66

rCSI 44.57%

PRS 13.69
transitional stage B cell CL0000818

CSI 24.42

rCSI 79.95%

PRS 14.97
perivascular cell CL4033054

CSI 24.35

rCSI 33.28%

PRS 5.42
mucosal invariant T cell CL0000940

CSI 24.16

rCSI 19.53%

PRS 11.04
macrophage CL0000235

CSI 23.8

rCSI 43.3%

PRS 23.06
gamma-delta T cell CL0000798

CSI 23.61

rCSI 27.73%

PRS 43.34
mesodermal cell CL0000222

CSI 23.5

rCSI 28.21%

PRS 4.77
multi-ciliated epithelial cell CL0005012

CSI 23.14

rCSI 23.09%

PRS 4.09
type B pancreatic cell CL0000169

CSI 22.7

rCSI 50.24%

PRS 4.48
double-positive, alpha-beta thymocyte CL0000809

CSI 22.55

rCSI 22.99%

PRS 6.91
CD4-positive, alpha-beta T cell CL0000624

CSI 21.89

rCSI 28.02%

PRS 70.48
transit amplifying cell of colon CL0009011

CSI 21.16

rCSI 24.85%

PRS 5.79
effector CD8-positive, alpha-beta T cell CL0001050

CSI 21.06

rCSI 16.02%

PRS 6.35
ciliated cell CL0000064

CSI 20.84

rCSI 33.76%

PRS 4.85
lung macrophage CL1001603

CSI 20.51

rCSI 45.81%

PRS 5.39
retinal ganglion cell CL0000740

CSI 20.34

rCSI 44.92%

PRS 3.45
intrahepatic cholangiocyte CL0002538

CSI 20.21

rCSI 48.5%

PRS 9.07
forebrain radial glial cell CL0013000

CSI 19.43

rCSI 62.34%

PRS 7.2
bronchus fibroblast of lung CL2000093

CSI 19.26

rCSI 15.65%

PRS 5.08
syncytiotrophoblast cell CL0000525

CSI 19.07

rCSI 54.93%

PRS 9.76
respiratory suprabasal cell CL4033048

CSI 19.07

rCSI 24.45%

PRS 5.51
endothelial cell of placenta CL0009092

CSI 19.06

rCSI 93.95%

PRS 6.48
ciliated columnar cell of tracheobronchial tree CL0002145

CSI 18.9

rCSI 43.08%

PRS 5.01
precursor B cell CL0000817

CSI 18.88

rCSI 16.54%

PRS 6.44
enteroendocrine cell CL0000164

CSI 18.36

rCSI 25.08%

PRS 5.28
T follicular helper cell CL0002038

CSI 18.34

rCSI 13.73%

PRS 7.86
type EC enteroendocrine cell CL0000577

CSI 18.27

rCSI 64.87%

PRS 7.87
respiratory hillock cell CL4030023

CSI 18

rCSI 32.11%

PRS 8.3
glandular epithelial cell CL0000150

CSI 17.87

rCSI 47.04%

PRS 9.34

kidney interstitial alternatively activated macrophage CL1000695

CSI -22.6

rCSI -59.0%

PRS 5.6%
renal beta-intercalated cell CL0002201

CSI -22.6

rCSI -53.8%

PRS 6.2%
sst GABAergic cortical interneuron CL4023017

CSI -19.3

rCSI -24.8%

PRS 3.0%
astrocyte of the cerebral cortex CL0002605

CSI -14.2

rCSI -31.7%

PRS 3.0%
retinal bipolar neuron CL0000748

CSI -13.5

rCSI -25.3%

PRS 3.7%
alpha-beta T cell CL0000789

CSI -12.6

rCSI -14.8%

PRS 7.6%
VIP GABAergic cortical interneuron CL4023016

CSI -11.4

rCSI -13.6%

PRS 2.9%
neural cell CL0002319

CSI -10.3

rCSI -39.0%

PRS 9.7%
fibroblast of cardiac tissue CL0002548

CSI -8.8

rCSI -42.3%

PRS 2.7%
renal alpha-intercalated cell CL0005011

CSI -8.1

rCSI -10.8%

PRS 6.5%
vascular leptomeningeal cell CL4023051

CSI -6.2

rCSI -10.9%

PRS 3.7%
regular ventricular cardiac myocyte CL0002131

CSI -6.2

rCSI -38.7%

PRS 3.9%
effector CD4-positive, alpha-beta T cell CL0001044

CSI -6.1

rCSI -17.4%

PRS 6.9%
tracheobronchial smooth muscle cell CL0019019

CSI -5.6

rCSI -9.9%

PRS 6.4%
cerebral cortex neuron CL0010012

CSI -5.5

rCSI -22.3%

PRS 5.8%
lung pericyte CL0009089

CSI -5.3

rCSI -14.0%

PRS 5.7%
brush cell of tracheobronchial tree CL0002075

CSI -5.2

rCSI -15.4%

PRS 8.1%
renal interstitial pericyte CL1001318

CSI -4.3

rCSI -11.9%

PRS 5.4%
basal cell of epidermis CL0002187

CSI -4.3

rCSI -7.6%

PRS 6.4%
epicardial adipocyte CL1000309

CSI -4.1

rCSI -13.4%

PRS 7.4%
endocardial cell CL0002350

CSI -4.1

rCSI -19.5%

PRS 7.8%
collagen secreting cell CL0000667

CSI -4.0

rCSI -23.2%

PRS 24.8%
hepatic stellate cell CL0000632

CSI -4.0

rCSI -14.8%

PRS 4.2%
exhausted T cell CL0011025

CSI -3.6

rCSI -60.2%

PRS 24.4%
dopaminergic neuron CL0000700

CSI -3.2

rCSI -18.2%

PRS 1.5%
pulmonary capillary endothelial cell CL4028001

CSI -3.2

rCSI -6.1%

PRS 7.7%
stratified epithelial cell CL0000079

CSI -3.2

rCSI -19.4%

PRS 24.0%
brush cell CL0002204

CSI -2.5

rCSI -5.0%

PRS 13.8%
lung resident memory CD4-positive, alpha-beta T cell CL4033038

CSI -2.5

rCSI -24.1%

PRS 48.6%
immature innate lymphoid cell CL0001082

CSI -2.4

rCSI -73.8%

PRS 66.6%
myoepithelial cell CL0000185

CSI -2.2

rCSI -5.7%

PRS 6.0%
L2/3 intratelencephalic projecting glutamatergic neuron CL4030059

CSI -1.8

rCSI -4.0%

PRS 2.3%
cord blood hematopoietic stem cell CL2000095

CSI -1.7

rCSI -33.5%

PRS 38.9%
parietal epithelial cell CL1000452

CSI -1.6

rCSI -4.2%

PRS 4.9%
IgA plasma cell CL0000987

CSI -1.5

rCSI -1.5%

PRS 9.1%
microglial cell CL0000129

CSI -1.2

rCSI -5.0%

PRS 20.2%
endothelial cell of periportal hepatic sinusoid CL0019021

CSI -1.2

rCSI -5.3%

PRS 17.5%
primordial germ cell CL0000670

CSI -1.0

rCSI -5.2%

PRS 34.2%
hepatic pit cell CL2000054

CSI -0.7

rCSI -9.4%

PRS 45.3%
lung resident memory CD8-positive, alpha-beta T cell CL4033039

CSI -0.7

rCSI -1.7%

PRS 16.8%
inhibitory interneuron CL0000498

CSI -0.5

rCSI -1.2%

PRS 4.3%
pvalb GABAergic cortical interneuron CL4023018

CSI -0.4

rCSI -0.5%

PRS 2.6%
central nervous system neuron CL2000029

CSI -0.4

rCSI -3.0%

PRS 2.3%
periportal region hepatocyte CL0019026

CSI -0.3

rCSI -1.3%

PRS 8.0%
group 3 innate lymphoid cell, human CL0001078

CSI -0.2

rCSI -3.8%

PRS 69.3%
lamp5 GABAergic cortical interneuron CL4023011

CSI -0.2

rCSI -0.3%

PRS 2.9%
L4 intratelencephalic projecting glutamatergic neuron CL4030063

CSI 0.0

rCSI 0.1%

PRS 2.7%
alveolar type 1 fibroblast cell CL4028004

CSI 0.1

rCSI 0.1%

PRS 5.6%
NKp44-negative group 3 innate lymphoid cell, human CL0001080

CSI 0.1

rCSI 4.5%

PRS 55.2%
intestinal crypt stem cell of small intestine CL0009017

CSI 0.2

rCSI 0.5%

PRS 6.2%
skeletal muscle satellite cell CL0000594

CSI 0.3

rCSI 0.8%

PRS 19.3%
mesenchymal lymphangioblast CL0005021

CSI 0.3

rCSI 6.9%

PRS 26.4%
H2 horizontal cell CL0004218

CSI 0.3

rCSI 1.4%

PRS 7.1%
megakaryocyte progenitor cell CL0000553

CSI 0.3

rCSI 5.2%

PRS 11.9%
cerebral cortex pyramidal neuron CL4023111

CSI 0.4

rCSI 2.2%

PRS 17.7%
immature alpha-beta T cell CL0000790

CSI 0.4

rCSI 5.4%

PRS 62.0%
neural progenitor cell CL0011020

CSI 0.4

rCSI 1.7%

PRS 4.9%
corneal epithelial cell CL0000575

CSI 0.4

rCSI 1.2%

PRS 9.3%
renal intercalated cell CL0005010

CSI 0.5

rCSI 4.1%

PRS 41.4%
caudal ganglionic eminence derived cortical interneuron CL4023064

CSI 0.5

rCSI 0.9%

PRS 2.9%
odontoblast CL0000060

CSI 0.5

rCSI 11.8%

PRS 27.3%
basophil mast progenitor cell CL0002028

CSI 0.6

rCSI 3.1%

PRS 15.5%
serous secreting cell CL0000313

CSI 0.6

rCSI 3.1%

PRS 24.1%
conjunctival epithelial cell CL1000432

CSI 0.7

rCSI 1.0%

PRS 4.8%
IgM plasma cell CL0000986

CSI 0.7

rCSI 3.0%

PRS 25.9%
basophil CL0000767

CSI 0.7

rCSI 1.4%

PRS 10.6%
smooth muscle cell of prostate CL1000487

CSI 0.7

rCSI 4.0%

PRS 26.6%
Merkel cell CL0000242

CSI 0.7

rCSI 15.8%

PRS 35.1%
cardiac neuron CL0010022

CSI 0.7

rCSI 2.2%

PRS 3.5%
GABAergic amacrine cell CL4030027

CSI 0.7

rCSI 2.4%

PRS 5.6%
small intestine goblet cell CL1000495

CSI 0.7

rCSI 1.6%

PRS 6.6%
chondrocyte CL0000138

CSI 0.8

rCSI 1.2%

PRS 4.3%
serous secreting cell of bronchus submucosal gland CL4033005

CSI 0.8

rCSI 4.4%

PRS 25.6%
thymocyte CL0000893

CSI 0.8

rCSI 2.9%

PRS 15.7%
glycinergic amacrine cell CL4030028

CSI 0.8

rCSI 2.2%

PRS 6.1%
ventricular cardiac muscle cell CL2000046

CSI 0.9

rCSI 3.1%

PRS 21.7%
cytotoxic T cell CL0000910

CSI 1.0

rCSI 5.4%

PRS 7.5%
tuft cell of colon CL0009041

CSI 1.0

rCSI 2.3%

PRS 11.6%
BEST4+ enteroycte CL4030026

CSI 1.0

rCSI 1.3%

PRS 5.1%
cone retinal bipolar cell CL0000752

CSI 1.0

rCSI 13.4%

PRS 27.8%
centrilobular region hepatocyte CL0019029

CSI 1.1

rCSI 2.8%

PRS 8.5%
paneth cell of epithelium of small intestine CL1000343

CSI 1.2

rCSI 3.4%

PRS 7.5%
vasa recta ascending limb cell CL1001131

CSI 1.3

rCSI 5.9%

PRS 22.0%
cholangiocyte CL1000488

CSI 1.3

rCSI 8.0%

PRS 9.7%
blood vessel smooth muscle cell CL0019018

CSI 1.4

rCSI 11.0%

PRS 5.1%
macroglial cell CL0000126

CSI 1.4

rCSI 3.5%

PRS 8.3%
Mueller cell CL0000636

CSI 1.4

rCSI 3.2%

PRS 4.4%
kidney connecting tubule epithelial cell CL1000768

CSI 1.4

rCSI 3.6%

PRS 3.8%
Bergmann glial cell CL0000644

CSI 1.5

rCSI 2.0%

PRS 5.3%
retinal cone cell CL0000573

CSI 1.5

rCSI 2.3%

PRS 3.7%
indirect pathway medium spiny neuron CL4023029

CSI 1.5

rCSI 35.8%

PRS 2.8%
direct pathway medium spiny neuron CL4023026

CSI 1.5

rCSI 36.5%

PRS 2.1%
uterine smooth muscle cell CL0002601

CSI 1.5

rCSI 10.2%

PRS 36.2%
pro-T cell CL0000827

CSI 1.6

rCSI 36.2%

PRS 31.6%
B-1 B cell CL0000819

CSI 1.6

rCSI 41.0%

PRS 27.8%
Schwann cell CL0002573

CSI 1.6

rCSI 4.7%

PRS 6.4%
neuron CL0000540

CSI 1.6

rCSI 4.4%

PRS 4.7%
B-2 B cell CL0000822

CSI 1.7

rCSI 35.0%

PRS 30.2%
midbrain dopaminergic neuron CL2000097

CSI 1.7

rCSI 10.9%

PRS 8.6%
neuroendocrine cell CL0000165

CSI 1.9

rCSI 7.4%

PRS 10.4%

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

Context Genes (max 20):

Interaction Source:

Pathway Categories (for ONTOLOGY source):

Baseline Cell Type:

Baseline Cell Context(s): Comma-separated if multiple.

Target Cell Type:

Target Cell Context(s): Comma-separated if multiple.

Legend:

Query Gene
Node Color (Target Cell CSI, relative to current network):
- Very High
- High
- Medium
- Low
- Very Low
- CSI N/A
Node Size: Proportional to Target Cell CSI magnitude
STRING PPI Edge
Shared Pathway Edge (ONTOLOGY)

Loading network (please wait)...

Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

Description
Proteins

## Summary [CDC42](/details-gene/998) (Cell Division Cycle 42) is a protein-coding gene located on chromosome 1p36.12 that encodes a small GTPase of the Rho family. As a critical molecular switch, it cycles between an active GTP-bound and an inactive GDP-bound state to regulate a vast array of cellular processes. Its primary functions involve organizing the actin cytoskeleton, establishing cell polarity, and controlling cell migration and division, as first suggested by its homology to the yeast cell cycle gene *CDC42* ([Link](https://pubmed.ncbi.nlm.nih.gov/2122236/)). **Overall**, [CDC42](/details-gene/998) shows high significance in highly motile and dynamic cell populations, including myeloid cells such as [CD14-low, CD16-positive monocyte](/details-cell/CL0002396), progenitor cells like [hematopoietic stem cell](/details-cell/CL0000037), and various specialized epithelial cells. This expression pattern underscores its fundamental role in cell motility, phagocytosis, and tissue morphogenesis. Clinically, it is associated with OMIM entry [116952](https://omim.org/entry/116952). ## Cellular Roles and Expression Landscape The expression profile of [CDC42](/details-gene/998) highlights its central role in cells requiring dynamic cytoskeletal rearrangement and polarity. **Overall**, its significance is highest in several distinct functional groups: * **Myeloid and Innate Immune Cells:** The gene is a top marker in [CD14-low, CD16-positive monocyte](/details-cell/CL0002396), [myeloid leukocyte](/details-cell/CL0000766), [elicited macrophage](/details-cell/CL0000861), and both [CD16-positive, CD56-dim natural killer cell, human](/details-cell/CL0000939) and [CD16-negative, CD56-bright natural killer cell, human](/details-cell/CL0000938). This pattern is consistent with its established function in cell migration, phagocytosis, and immune surveillance. * **Stem and Progenitor Cells:** [CDC42](/details-gene/998) shows high significance in [hematopoietic stem cell](/details-cell/CL0000037), [granulocyte monocyte progenitor cell](/details-cell/CL0000557), and [megakaryocyte-erythroid progenitor cell](/details-cell/CL0000050). This suggests a critical role in regulating cell division, differentiation, and the establishment of polarity necessary for asymmetric division and fate determination in hematopoietic lineages. * **Specialized Epithelial and Structural Cells:** High significance is also observed in [ciliated epithelial cell](/details-cell/CL0000067), [keratinocyte](/details-cell/CL0000312), [extravillous trophoblast](/details-cell/CL0008036), and [fallopian tube secretory epithelial cell](/details-cell/CL4030006). This indicates its importance in maintaining tissue architecture, cell-cell junctions, and directed secretion or movement in these barrier and reproductive tissues. Conversely, [CDC42](/details-gene/998) displays low significance in terminally differentiated and structurally stable cell types. Notably, its expression is suppressed in various [neural cell](/details-cell/CL0002319) populations, including [sst GABAergic cortical interneuron](/details-cell/CL4023017) and [astrocyte of the cerebral cortex](/details-cell/CL0002605), as well as in contractile cells like [regular ventricular cardiac myocyte](/details-cell/CL0002131) and [tracheobronchial smooth muscle cell](/details-cell/CL0019019). This restricted expression pattern reinforces its specialized role in cellular plasticity and dynamism rather than static structural maintenance. ## Pathways and Molecular Function The functional annotations for [CDC42](/details-gene/998) strongly align with its observed cellular expression pattern. As a GTPase ([GO:0003924](https://www.ebi.ac.uk/QuickGO/term/GO:0003924)) and GTP-binding protein ([GO:0005525](https://www.ebi.ac.uk/QuickGO/term/GO:0005525)), it acts as a central node in numerous signaling pathways. Its biological processes are dominated by cytoskeletal regulation, including [Actin cytoskeleton organization](/details-gene/GO:0030036), [Filopodium assembly](/details-gene/GO:0046847), and the establishment of cell polarity ([GO:0030010](https://www.ebi.ac.uk/QuickGO/term/GO:0030010)). These functions are essential for the migratory and phagocytic activities of the myeloid cells where it is highly expressed, a connection further supported by its involvement in the [Fcgamma receptor (fcgr) dependent phagocytosis](/details-gene/R-HSA-2029480) and [Regulation of actin dynamics for phagocytic cup formation](/details-gene/R-HSA-2029482) Reactome pathways. The gene's role extends broadly across the [Immune system](/details-gene/R-HSA-168256), influencing both the [Innate immune system](/details-gene/R-HSA-168249) and [Adaptive immune system](/details-gene/R-HSA-1280218). It participates in key immune signaling cascades such as [Cd28 co-stimulation](/details-gene/R-HSA-389356) and [Cytokine signaling in immune system](/details-gene/R-HSA-1280215). Furthermore, its involvement in [Nervous system development](/details-gene/R-HSA-9675108) and [Axon guidance](/details-gene/R-HSA-422475) highlights a context-dependent role in neuronal morphogenesis, even though its overall expression is low in mature neurons. The central pathway, [Cdc42 gtpase cycle](/details-gene/R-HSA-9013148), integrates these diverse functions, positioning [CDC42](/details-gene/998) as a master regulator of cellular shape, movement, and division. ## Research Directions Based on its fundamental roles in cell biology, [CDC42](/details-gene/998) presents several avenues for future investigation, particularly concerning its precise functions in specialized cell types. **Proposed Hypotheses:** 1. Given its premier significance in [CD14-low, CD16-positive monocyte](/details-cell/CL0002396) and its well-defined role in cytoskeletal dynamics, it is hypothesized that **[CDC42](/details-gene/998) is a master regulator of the endothelial patrolling behavior and rapid inflammatory response characteristic of non-classical monocytes.** Its activity may directly control the formation of membrane tethers and the crawling mechanism used by these cells to survey the vasculature. 2. The high significance of [CDC42](/details-gene/998) in [hematopoietic stem cell](/details-cell/CL0000037) and its function in establishing cell polarity suggest that **[CDC42](/details-gene/998) is essential for asymmetric cell division in HSCs, thereby maintaining the critical balance between self-renewal and lineage commitment.** Dysregulation or decreased activity of [CDC42](/details-gene/998) could lead to premature stem cell exhaustion or myeloid-biased differentiation. **Experimental Approach:** To test the second hypothesis, a conditional knockout mouse model (*Cdc42*^fl/fl; *Vav1-Cre* or *Mx1-Cre*) could be used to specifically delete [CDC42](/details-gene/998) in the hematopoietic system. The functional consequences could be assessed through competitive bone marrow transplantation assays, where the ability of *Cdc42*-deficient HSCs to reconstitute the hematopoietic system of lethally irradiated recipient mice is compared to wild-type controls. Flow cytometric analysis of lineage output and serial transplantation would directly measure self-renewal capacity and differentiation bias. Furthermore, live-cell imaging of isolated HSCs undergoing mitosis could be used to directly visualize defects in spindle orientation and asymmetric segregation of cell fate determinants following pharmacological inhibition of [CDC42](/details-gene/998) activity. **Therapeutic Potential:** As a central signaling hub, [CDC42](/details-gene/998) is an attractive, albeit challenging, therapeutic target. Its essential role in a wide range of healthy tissues, including immune and stem cells, suggests that systemic inhibition could lead to significant toxicity. However, in pathologies characterized by aberrant cell migration and proliferation, such as metastatic cancer, targeting [CDC42](/details-gene/998) or its specific downstream effectors could be a viable strategy. The therapeutic approach would focus on **inhibition** to curtail migratory and invasive phenotypes. The development of small molecule inhibitors or strategies for targeted delivery (e.g., nanoparticle-based systems) to tumor cells would be necessary to mitigate off-target effects and exploit its therapeutic potential.

Disclaimer: This in-silico analysis is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

G25K GTP-binding protein

Genular Protein ID: 91791884

Symbol: CDC42_HUMAN

Name: G25K GTP-binding protein

UniProtKB Accession Codes:

P60953 P21181 P25763 Q7L8R5 Q9UDI2

Database IDs:

Citations:

PubMed ID: 2122236

Title: Molecular cloning and expression of a G25K cDNA, the human homolog of the yeast cell cycle gene CDC42.

PubMed ID: 2122236

DOI: 10.1128/mcb.10.11.5977-5982.1990

PubMed ID: 2124704

Title: Molecular cloning of the gene for the human placental GTP-binding protein Gp (G25K): identification of this GTP-binding protein as the human homolog of the yeast cell-division-cycle protein CDC42.

PubMed ID: 2124704

DOI: 10.1073/pnas.87.24.9853

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8504089

Title: Regulation of the human neutrophil NADPH oxidase by rho-related G-proteins.

PubMed ID: 8504089

DOI: 10.1021/bi00072a029

PubMed ID: 2496687

Title: Characterization of G25K, a GTP-binding protein containing a novel putative nucleotide binding domain.

PubMed ID: 2496687

DOI: 10.1016/0006-291x(89)91615-x

PubMed ID: 7512369

Title: Identification of a novel protein with GDP dissociation inhibitor activity for the ras-like proteins CDC42Hs and rac I.

PubMed ID: 7512369

DOI: 10.1002/gcc.2870080408

PubMed ID: 7777059

Title: Glucosylation of Rho proteins by Clostridium difficile toxin B.

PubMed ID: 7777059

DOI: 10.1038/375500a0

PubMed ID: 7775453

Title: The enterotoxin from Clostridium difficile (ToxA) monoglucosylates the Rho proteins.

PubMed ID: 7775453

DOI: 10.1074/jbc.270.23.13932

PubMed ID: 8810274

Title: Clostridium novyi alpha-toxin-catalyzed incorporation of GlcNAc into Rho subfamily proteins.

PubMed ID: 8810274

DOI: 10.1074/jbc.271.41.25173

PubMed ID: 10490598

Title: The Borgs, a new family of Cdc42 and TC10 GTPase-interacting proteins.

PubMed ID: 10490598

DOI: 10.1128/mcb.19.10.6585

PubMed ID: 10587647

Title: Melanoma chondroitin sulphate proteoglycan regulates cell spreading through Cdc42, Ack-1 and p130cas.

PubMed ID: 10587647

DOI: 10.1038/70302

PubMed ID: 10816584

Title: SPECs, small binding proteins for Cdc42.

PubMed ID: 10816584

DOI: 10.1074/jbc.m002832200

PubMed ID: 10954424

Title: The mammalian homologue of the Caenorhabditis elegans polarity protein PAR-6 is a binding partner for the Rho GTPases Cdc42 and Rac1.

PubMed ID: 10954424

DOI: 10.1242/jcs.113.18.3267

PubMed ID: 11130076

Title: IRSp53 is an essential intermediate between Rac and WAVE in the regulation of membrane ruffling.

PubMed ID: 11130076

DOI: 10.1038/35047107

PubMed ID: 11260256

Title: Human homologues of the Caenorhabditis elegans cell polarity protein PAR6 as an adaptor that links the small GTPases Rac and Cdc42 to atypical protein kinase C.

PubMed ID: 11260256

DOI: 10.1046/j.1365-2443.2001.00404.x

PubMed ID: 11807099

Title: The integrin cytoplasmic domain-associated protein ICAP-1 binds and regulates Rho family GTPases during cell spreading.

PubMed ID: 11807099

DOI: 10.1083/jcb.200108030

PubMed ID: 12172552

Title: Zizimin1, a novel Cdc42 activator, reveals a new GEF domain for Rho proteins.

PubMed ID: 12172552

DOI: 10.1038/ncb835

PubMed ID: 14506284

Title: Epidermal growth factor-dependent regulation of Cdc42 is mediated by the Src tyrosine kinase.

PubMed ID: 14506284

DOI: 10.1074/jbc.m307021200

PubMed ID: 12612085

Title: The TRE17 oncogene encodes a component of a novel effector pathway for Rho GTPases Cdc42 and Rac1 and stimulates actin remodeling.

PubMed ID: 12612085

DOI: 10.1128/mcb.23.6.2151-2161.2003

PubMed ID: 14978216

Title: Regulation of dendritic branching and filopodia formation in hippocampal neurons by specific acylated protein motifs.

PubMed ID: 14978216

DOI: 10.1091/mbc.e03-07-0493

PubMed ID: 15642749

Title: Ect2 and MgcRacGAP regulate the activation and function of Cdc42 in mitosis.

PubMed ID: 15642749

DOI: 10.1083/jcb.200408085

PubMed ID: 17038317

Title: Ack1 mediates Cdc42-dependent cell migration and signaling to p130Cas.

PubMed ID: 17038317

DOI: 10.1074/jbc.m604342200

PubMed ID: 19029984

Title: Modification of mineralocorticoid receptor function by Rac1 GTPase: implication in proteinuric kidney disease.

PubMed ID: 19029984

DOI: 10.1038/nm.1879

PubMed ID: 19362538

Title: The fic domain: regulation of cell signaling by adenylylation.

PubMed ID: 19362538

DOI: 10.1016/j.molcel.2009.03.008

PubMed ID: 19798448

Title: Requirements for F-BAR proteins TOCA-1 and TOCA-2 in actin dynamics and membrane trafficking during Caenorhabditis elegans oocyte growth and embryonic epidermal morphogenesis.

PubMed ID: 19798448

DOI: 10.1371/journal.pgen.1000675

PubMed ID: 19039103

Title: AMPylation of Rho GTPases by Vibrio VopS disrupts effector binding and downstream signaling.

PubMed ID: 19039103

DOI: 10.1126/science.1166382

PubMed ID: 20873783

Title: Characterization of hNek6 interactome reveals an important role for its short N-terminal domain and colocalization with proteins at the centrosome.

PubMed ID: 20873783

DOI: 10.1021/pr100562w

PubMed ID: 21565175

Title: ARHGAP30 is a Wrch-1-interacting protein involved in actin dynamics and cell adhesion.

PubMed ID: 21565175

DOI: 10.1016/j.bbrc.2011.04.116

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21139582

Title: The HPV16 E6 binding protein Tip-1 interacts with ARHGEF16, which activates Cdc42.

PubMed ID: 21139582

DOI: 10.1038/sj.bjc.6606026

PubMed ID: 22843693

Title: Tetraspanin CD151 stimulates adhesion-dependent activation of Ras, Rac, and Cdc42 by facilitating molecular association between beta1 integrins and small GTPases.

PubMed ID: 22843693

DOI: 10.1074/jbc.m111.314443

PubMed ID: 23940119

Title: The GEF Bcr activates RhoA/MAL signaling to promote keratinocyte differentiation via desmoglein-1.

PubMed ID: 23940119

DOI: 10.1083/jcb.201304133

PubMed ID: 23434736

Title: ARHGDIA: a novel gene implicated in nephrotic syndrome.

PubMed ID: 23434736

DOI: 10.1136/jmedgenet-2012-101442

PubMed ID: 24141704

Title: A bacterial toxin catalyzing tyrosine glycosylation of Rho and deamidation of Gq and Gi proteins.

PubMed ID: 24141704

DOI: 10.1038/nsmb.2688

PubMed ID: 24905543

Title: Haemorrhagic toxin and lethal toxin from Clostridium sordellii strain vpi9048: molecular characterization and comparative analysis of substrate specificity of the large clostridial glucosylating toxins.

PubMed ID: 24905543

DOI: 10.1111/cmi.12321

PubMed ID: 26465210

Title: Phosphoinositide 3-kinase enables phagocytosis of large particles by terminating actin assembly through Rac/Cdc42 GTPase-activating proteins.

PubMed ID: 26465210

DOI: 10.1038/ncomms9623

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 33310911

Title: PLEKHG4B enables actin cytoskeletal remodeling during epithelial cell-cell junction formation.

PubMed ID: 33310911

DOI: 10.1242/jcs.249078

PubMed ID: 33523862

Title: Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice.

PubMed ID: 33523862

DOI: 10.1126/sciadv.abe1386

PubMed ID: 9220962

Title: Definition of the switch surface in the solution structure of Cdc42Hs.

PubMed ID: 9220962

DOI: 10.1021/bi970694x

PubMed ID: 9760238

Title: Identification of the binding surface on Cdc42Hs for p21-activated kinase.

PubMed ID: 9760238

DOI: 10.1021/bi981352+

PubMed ID: 9262406

Title: Crystal structure of a small G protein in complex with the GTPase-activating protein rhoGAP.

PubMed ID: 9262406

DOI: 10.1038/41805

PubMed ID: 10211824

Title: Nucleotide binding to the G12V-mutant of Cdc42 investigated by X-ray diffraction and fluorescence spectroscopy: two different nucleotide states in one crystal.

PubMed ID: 10211824

DOI: 10.1110/ps.8.4.778

PubMed ID: 10676816

Title: Structure of the Rho family GTP-binding protein Cdc42 in complex with the multifunctional regulator RhoGDI.

PubMed ID: 10676816

DOI: 10.1016/s0092-8674(00)80670-4

PubMed ID: 19745154

Title: Activation of Rho GTPases by DOCK exchange factors is mediated by a nucleotide sensor.

PubMed ID: 19745154

DOI: 10.1126/science.1174468

PubMed ID: 20622875

Title: Structural basis of Fic-mediated adenylylation.

PubMed ID: 20622875

DOI: 10.1038/nsmb.1867

PubMed ID: 22461490

Title: DOCK8 is a Cdc42 activator critical for interstitial dendritic cell migration during immune responses.

PubMed ID: 22461490

DOI: 10.1182/blood-2012-01-407098

PubMed ID: 26386261

Title: Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay.

PubMed ID: 26386261

DOI: 10.1002/ajmg.a.37275

PubMed ID: 26708094

Title: Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia.

PubMed ID: 26708094

DOI: 10.1002/ajmg.a.37526

Sequence Information:

Length: 191
Mass: 21259
Checksum: 51A437E22A4D8FFF
Sequence:

MQTIKCVVVG DGAVGKTCLL ISYTTNKFPS EYVPTVFDNY AVTVMIGGEP YTLGLFDTAG 
QEDYDRLRPL SYPQTDVFLV CFSVVSPSSF ENVKEKWVPE ITHHCPKTPF LLVGTQIDLR 
DDPSTIEKLA KNKQKPITPE TAEKLARDLK AVKYVECSAL TQKGLKNVFD EAILAALEPP 
EPKKSRRCVL L

	Overall overall
	Acute kidney failure MONDO0002492
	Adrenal gland UBERON0002369
	Alzheimer disease MONDO0004975
	Amyotrophic lateral sclerosis MONDO0004976
	Ascending colon UBERON0001156
	\|— Ascending colon Healthy UBERON0001156_PATO0000461
	Atherosclerosis MONDO0005311
	Axilla UBERON0009472
	Basal cell carcinoma MONDO0020804
	Bipolar disorder MONDO0004985
	Bipolar I disorder MONDO0001866
	Blood UBERON0000178
	\|— Blood COVID-19 UBERON0000178_MONDO0100096
	\|— Blood Cytomegalovirus infection UBERON0000178_MONDO0005132
	\|— Blood Healthy UBERON0000178_PATO0000461
	Body of stomach UBERON0001161
	Bone marrow UBERON0002371
	\|— Bone marrow Healthy UBERON0002371_PATO0000461
	Brain UBERON0000955
	\|— Brain Healthy UBERON0000955_PATO0000461
	Breast UBERON0000310
	\|— Breast Healthy UBERON0000310_PATO0000461
	\|— Breast cancer MONDO0007254
	Bronchus UBERON0002185
	Caecum UBERON0001153
	\|— Caecum Healthy UBERON0001153_PATO0000461
	Caudate lobe of liver UBERON0001117
	Cerebellum UBERON0002037
	\|— Cerebellum Healthy UBERON0002037_PATO0000461
	Cerebral cortex UBERON0000956
	\|— Cerebral cortex Healthy UBERON0000956_PATO0000461
	Cerebrospinal fluid UBERON0001359
	Choroid plexus UBERON0001886
	Chronic kidney disease MONDO0005300
	Colon UBERON0001155
	\|— Colon Healthy UBERON0001155_PATO0000461
	\|— Colonic epithelium UBERON0000397
	\|— Colonic epithelium Healthy UBERON0000397_PATO0000461
	Colorectal cancer MONDO0005575
	Colorectum UBERON0012652
	Cortex of kidney UBERON0001225
	\|— Cortex of kidney Healthy UBERON0001225_PATO0000461
	COVID-19 MONDO0100096
	Crohn disease MONDO0005011
	Cytomegalovirus infection MONDO0005132
	Dementia MONDO0001627
	Dental pulp UBERON0001754
	Dorsolateral prefrontal cortex UBERON0009834
	\|— Dorsolateral prefrontal cortex Bipolar disorder UBERON0009834_MONDO0004985
	\|— Dorsolateral prefrontal cortex Bipolar I disorder UBERON0009834_MONDO0001866
	\|— Dorsolateral prefrontal cortex Dementia UBERON0009834_MONDO0001627
	\|— Dorsolateral prefrontal cortex Healthy UBERON0009834_PATO0000461
	\|— Dorsolateral prefrontal cortex Schizophrenia UBERON0009834_MONDO0005090
	\|— Dorsolateral prefrontal cortex Vascular dementia UBERON0009834_MONDO0004648
	Duodenum UBERON0002114
	\|— Duodenum Healthy UBERON0002114_PATO0000461
	Entorhinal cortex UBERON0002728
	Fallopian tube UBERON0003889
	Fovea centralis UBERON0001786
	\|— Fovea centralis Healthy UBERON0001786_PATO0000461
	Frontal cortex UBERON0001870
	Glioblastoma MONDO0018177
	Healthy PATO0000461
	Heart left ventricle UBERON0002084
	\|— Heart left ventricle Healthy UBERON0002084_PATO0000461
	Heart right ventricle UBERON0002080
	\|— Heart right ventricle Healthy UBERON0002080_PATO0000461
	Hippocampal formation UBERON0002421
	\|— Hippocampal formation Healthy UBERON0002421_PATO0000461
	Hypothalamus UBERON0001898
	\|— Hypothalamus Healthy UBERON0001898_PATO0000461
	Ileal epithelium UBERON0008345
	Ileum UBERON0002116
	\|— Ileum Healthy UBERON0002116_PATO0000461
	\|— Ileum lamina propria UBERON8600035
	Interventricular septum UBERON0002094
	Islet of Langerhans UBERON0000006
	Isolated focal cortical dysplasia type II MONDO0011818
	Kidney UBERON0002113
	\|— Kidney Healthy UBERON0002113_PATO0000461
	Lamina propria of small intestine UBERON0001238
	Leukoencephalopathy, diffuse hereditary, with spheroids 1 MONDO0800027
	Liver UBERON0002107
	\|— Liver Healthy UBERON0002107_PATO0000461
	Lung UBERON0002048
	\|— Lung Healthy UBERON0002048_PATO0000461
	\|— Lung Renal cell carcinoma UBERON0002048_MONDO0005086
	\|— Lung adenocarcinoma MONDO0005061
	\|— Lung parenchyma UBERON0008946
	Lymph node UBERON0000029
	\|— Lymph node Metastatic melanoma UBERON0000029_MONDO0005191
	Malignant ovarian serous tumor MONDO0024885
	Medial orbital frontal cortex UBERON0022352
	Mesenteric lymph node UBERON0002509
	\|— Mesenteric lymph node Healthy UBERON0002509_PATO0000461
	Metastatic melanoma MONDO0005191
	Midbrain UBERON0001891
	\|— Midbrain Healthy UBERON0001891_PATO0000461
	Nasopharynx UBERON0001728
	Neocortex UBERON0001950
	\|— Neocortex Healthy UBERON0001950_PATO0000461
	Neuroblastoma MONDO0005072
	Nonpapillary renal cell carcinoma MONDO0007763
	Occipital cortex UBERON0016540
	Ovary UBERON0000992
	\|— Ovary Healthy UBERON0000992_PATO0000461
	Pancreas UBERON0001264
	\|— Pancreas Healthy UBERON0001264_PATO0000461
	Parkinson disease MONDO0005180
	Peripheral region of retina UBERON0013682
	\|— Peripheral region of retina Healthy UBERON0013682_PATO0000461
	Placenta UBERON0001987
	\|— Placenta Healthy UBERON0001987_PATO0000461
	Pleural effusion UBERON0000175
	Pons UBERON0000988
	\|— Pons Healthy UBERON0000988_PATO0000461
	Prefrontal cortex UBERON0000451
	Primary motor cortex UBERON0001384
	Primary visual cortex UBERON0002436
	Rectum UBERON0001052
	Renal cell carcinoma MONDO0005086
	Renal medulla UBERON0000362
	\|— Renal medulla Healthy UBERON0000362_PATO0000461
	Respiratory airway UBERON0001005
	\|— Respiratory airway COVID-19 UBERON0001005_MONDO0100096
	Retina UBERON0000966
	\|— Retina Healthy UBERON0000966_PATO0000461
	Right atrium auricular region UBERON0006631
	Schizophrenia MONDO0005090
	Sigmoid colon UBERON0001159
	\|— Sigmoid colon Healthy UBERON0001159_PATO0000461
	Skin of body UBERON0002097
	\|— Skin of body Healthy UBERON0002097_PATO0000461
	Small cell lung carcinoma MONDO0008433
	Spleen UBERON0002106
	\|— Spleen Healthy UBERON0002106_PATO0000461
	Stomach UBERON0000945
	Substantia nigra pars compacta UBERON0001965
	Telencephalon UBERON0001893
	\|— Telencephalon Healthy UBERON0001893_PATO0000461
	Thalamic complex UBERON0010225
	\|— Thalamic complex Healthy UBERON0010225_PATO0000461
	Thymus UBERON0002370
	\|— Thymus Healthy UBERON0002370_PATO0000461
	Trachea UBERON0003126
	UBERON0005290 UBERON0005290
	\|— UBERON0005290 Healthy UBERON0005290_PATO0000461
	UBERON8440012 UBERON8440012
	\|— UBERON8440012 Healthy UBERON8440012_PATO0000461
	Upper lobe of left lung UBERON0008952
	Vascular dementia MONDO0004648

Details for: CDC42

Cell Significance Landscape

Associated with

Significant Cells

Network Configuration

Legend:

Other Information

Molecular cloning and expression of a G25K cDNA, the human homolog of the yeast cell cycle gene CDC42. PubMed ID: 2122236

Molecular cloning of the gene for the human placental GTP-binding protein Gp (G25K): identification of this GTP-binding protein as the human homolog of the yeast cell-division-cycle protein CDC42. PubMed ID: 2124704

The DNA sequence and biological annotation of human chromosome 1. PubMed ID: 16710414

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Regulation of the human neutrophil NADPH oxidase by rho-related G-proteins. PubMed ID: 8504089

Characterization of G25K, a GTP-binding protein containing a novel putative nucleotide binding domain. PubMed ID: 2496687

Identification of a novel protein with GDP dissociation inhibitor activity for the ras-like proteins CDC42Hs and rac I. PubMed ID: 7512369

Glucosylation of Rho proteins by Clostridium difficile toxin B. PubMed ID: 7777059

The enterotoxin from Clostridium difficile (ToxA) monoglucosylates the Rho proteins. PubMed ID: 7775453

Clostridium novyi alpha-toxin-catalyzed incorporation of GlcNAc into Rho subfamily proteins. PubMed ID: 8810274

The Borgs, a new family of Cdc42 and TC10 GTPase-interacting proteins. PubMed ID: 10490598

Melanoma chondroitin sulphate proteoglycan regulates cell spreading through Cdc42, Ack-1 and p130cas. PubMed ID: 10587647

SPECs, small binding proteins for Cdc42. PubMed ID: 10816584

The mammalian homologue of the Caenorhabditis elegans polarity protein PAR-6 is a binding partner for the Rho GTPases Cdc42 and Rac1. PubMed ID: 10954424

IRSp53 is an essential intermediate between Rac and WAVE in the regulation of membrane ruffling. PubMed ID: 11130076

Human homologues of the Caenorhabditis elegans cell polarity protein PAR6 as an adaptor that links the small GTPases Rac and Cdc42 to atypical protein kinase C. PubMed ID: 11260256

The integrin cytoplasmic domain-associated protein ICAP-1 binds and regulates Rho family GTPases during cell spreading. PubMed ID: 11807099

Zizimin1, a novel Cdc42 activator, reveals a new GEF domain for Rho proteins. PubMed ID: 12172552

Epidermal growth factor-dependent regulation of Cdc42 is mediated by the Src tyrosine kinase. PubMed ID: 14506284

The TRE17 oncogene encodes a component of a novel effector pathway for Rho GTPases Cdc42 and Rac1 and stimulates actin remodeling. PubMed ID: 12612085

Regulation of dendritic branching and filopodia formation in hippocampal neurons by specific acylated protein motifs. PubMed ID: 14978216

Ect2 and MgcRacGAP regulate the activation and function of Cdc42 in mitosis. PubMed ID: 15642749

Ack1 mediates Cdc42-dependent cell migration and signaling to p130Cas. PubMed ID: 17038317

Modification of mineralocorticoid receptor function by Rac1 GTPase: implication in proteinuric kidney disease. PubMed ID: 19029984

The fic domain: regulation of cell signaling by adenylylation. PubMed ID: 19362538

Requirements for F-BAR proteins TOCA-1 and TOCA-2 in actin dynamics and membrane trafficking during Caenorhabditis elegans oocyte growth and embryonic epidermal morphogenesis. PubMed ID: 19798448

AMPylation of Rho GTPases by Vibrio VopS disrupts effector binding and downstream signaling. PubMed ID: 19039103

Characterization of hNek6 interactome reveals an important role for its short N-terminal domain and colocalization with proteins at the centrosome. PubMed ID: 20873783

ARHGAP30 is a Wrch-1-interacting protein involved in actin dynamics and cell adhesion. PubMed ID: 21565175

Initial characterization of the human central proteome. PubMed ID: 21269460

The HPV16 E6 binding protein Tip-1 interacts with ARHGEF16, which activates Cdc42. PubMed ID: 21139582

Tetraspanin CD151 stimulates adhesion-dependent activation of Ras, Rac, and Cdc42 by facilitating molecular association between beta1 integrins and small GTPases. PubMed ID: 22843693

The GEF Bcr activates RhoA/MAL signaling to promote keratinocyte differentiation via desmoglein-1. PubMed ID: 23940119

ARHGDIA: a novel gene implicated in nephrotic syndrome. PubMed ID: 23434736

A bacterial toxin catalyzing tyrosine glycosylation of Rho and deamidation of Gq and Gi proteins. PubMed ID: 24141704

Haemorrhagic toxin and lethal toxin from Clostridium sordellii strain vpi9048: molecular characterization and comparative analysis of substrate specificity of the large clostridial glucosylating toxins. PubMed ID: 24905543

Phosphoinositide 3-kinase enables phagocytosis of large particles by terminating actin assembly through Rac/Cdc42 GTPase-activating proteins. PubMed ID: 26465210

N-terminome analysis of the human mitochondrial proteome. PubMed ID: 25944712

PLEKHG4B enables actin cytoskeletal remodeling during epithelial cell-cell junction formation. PubMed ID: 33310911

Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice. PubMed ID: 33523862

Definition of the switch surface in the solution structure of Cdc42Hs. PubMed ID: 9220962

Identification of the binding surface on Cdc42Hs for p21-activated kinase. PubMed ID: 9760238

Crystal structure of a small G protein in complex with the GTPase-activating protein rhoGAP. PubMed ID: 9262406

Nucleotide binding to the G12V-mutant of Cdc42 investigated by X-ray diffraction and fluorescence spectroscopy: two different nucleotide states in one crystal. PubMed ID: 10211824

Structure of the Rho family GTP-binding protein Cdc42 in complex with the multifunctional regulator RhoGDI. PubMed ID: 10676816

Activation of Rho GTPases by DOCK exchange factors is mediated by a nucleotide sensor. PubMed ID: 19745154

Structural basis of Fic-mediated adenylylation. PubMed ID: 20622875

DOCK8 is a Cdc42 activator critical for interstitial dendritic cell migration during immune responses. PubMed ID: 22461490

Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay. PubMed ID: 26386261

Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia. PubMed ID: 26708094