DOCK3 | ENSG00000088538 | NCBI 1795

Details for: DOCK3

Gene ID: 1795

Symbol: DOCK3

Ensembl ID: ENSG00000088538

Description: dedicator of cytokinesis 3

Associated with

Activated ntrk2 signals through fyn
(R-HSA-9032500)
Factors involved in megakaryocyte development and platelet production
(R-HSA-983231)
Hemostasis
(R-HSA-109582)
Ntrk2 activates rac1
(R-HSA-9032759)
Rac1 gtpase cycle
(R-HSA-9013149)
Rac2 gtpase cycle
(R-HSA-9013404)
Rhog gtpase cycle
(R-HSA-9013408)
Rho gtpase cycle
(R-HSA-9012999)
Signaling by ntrk2 (trkb)
(R-HSA-9006115)
Signaling by ntrks
(R-HSA-166520)
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)
Signal transduction
(R-HSA-162582)
Cytoplasm
(GO:0005737)
Cytosol
(GO:0005829)
Gtpase activator activity
(GO:0005096)
Guanyl-nucleotide exchange factor activity
(GO:0005085)
Neurotrophin trk receptor signaling pathway
(GO:0048011)
Plasma membrane
(GO:0005886)
Protein binding
(GO:0005515)
Regulation of small gtpase mediated signal transduction
(GO:0051056)
Sh3 domain binding
(GO:0017124)
Small gtpase-mediated signal transduction
(GO:0007264)
Small gtpase binding
(GO:0031267)

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: stellate neuron (CL0000122)
Fold Change: 5.83
Marker Score: 31,330
Cell Name: epithelial cell of alveolus of lung (CL0010003)
Fold Change: 5.43
Marker Score: 2,436
Cell Name: granule cell (CL0000120)
Fold Change: 5.39
Marker Score: 40,627
Cell Name: Purkinje cell (CL0000121)
Fold Change: 5.27
Marker Score: 177,876
Cell Name: macroglial cell (CL0000126)
Fold Change: 5.02
Marker Score: 11,546
Cell Name: inhibitory interneuron (CL0000498)
Fold Change: 4.53
Marker Score: 20,953
Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
Fold Change: 4.18
Marker Score: 21,939
Cell Name: neuronal brush cell (CL0000555)
Fold Change: 3.97
Marker Score: 13,313
Cell Name: brainstem motor neuron (CL2000047)
Fold Change: 3.49
Marker Score: 2,028
Cell Name: oligodendrocyte (CL0000128)
Fold Change: 3.43
Marker Score: 8,219
Cell Name: ciliary muscle cell (CL1000443)
Fold Change: 3.2
Marker Score: 7,015
Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 3.19
Marker Score: 13,345
Cell Name: A2 amacrine cell (CL0004219)
Fold Change: 3.14
Marker Score: 995
Cell Name: regular ventricular cardiac myocyte (CL0002131)
Fold Change: 3.03
Marker Score: 67,812
Cell Name: astrocyte of the cerebral cortex (CL0002605)
Fold Change: 2.99
Marker Score: 63,796
Cell Name: cerebral cortex neuron (CL0010012)
Fold Change: 2.98
Marker Score: 8,515
Cell Name: regular atrial cardiac myocyte (CL0002129)
Fold Change: 2.96
Marker Score: 10,541
Cell Name: pyramidal neuron (CL0000598)
Fold Change: 2.93
Marker Score: 4,916
Cell Name: sst GABAergic cortical interneuron (CL4023017)
Fold Change: 2.91
Marker Score: 57,865
Cell Name: sncg GABAergic cortical interneuron (CL4023015)
Fold Change: 2.88
Marker Score: 22,057
Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
Fold Change: 2.86
Marker Score: 42,699
Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: 2.84
Marker Score: 830
Cell Name: mature astrocyte (CL0002627)
Fold Change: 2.83
Marker Score: 1,861
Cell Name: anterior lens cell (CL0002223)
Fold Change: 2.8
Marker Score: 3,765
Cell Name: lens epithelial cell (CL0002224)
Fold Change: 2.79
Marker Score: 3,374
Cell Name: chromaffin cell (CL0000166)
Fold Change: 2.78
Marker Score: 3,905
Cell Name: vip GABAergic cortical interneuron (CL4023016)
Fold Change: 2.74
Marker Score: 103,868
Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: 2.72
Marker Score: 925
Cell Name: secondary lens fiber (CL0002225)
Fold Change: 2.65
Marker Score: 1,549
Cell Name: CNS interneuron (CL0000402)
Fold Change: 2.63
Marker Score: 1,264
Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
Fold Change: 2.62
Marker Score: 10,868
Cell Name: GABAergic interneuron (CL0011005)
Fold Change: 2.62
Marker Score: 1,006
Cell Name: OFF retinal ganglion cell (CL4023033)
Fold Change: 2.55
Marker Score: 1,069
Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: 2.53
Marker Score: 798
Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: 2.46
Marker Score: 90,611
Cell Name: corneal epithelial cell (CL0000575)
Fold Change: 2.38
Marker Score: 2,626
Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 2.37
Marker Score: 9,149
Cell Name: retinal ganglion cell (CL0000740)
Fold Change: 2.32
Marker Score: 2,898
Cell Name: cerebellar granule cell precursor (CL0002362)
Fold Change: 2.3
Marker Score: 1,291
Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: 2.2
Marker Score: 20,687
Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 2.08
Marker Score: 127,969
Cell Name: photoreceptor cell (CL0000210)
Fold Change: 2.05
Marker Score: 1,542
Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: 1.93
Marker Score: 18,351
Cell Name: corneal endothelial cell (CL0000132)
Fold Change: 1.93
Marker Score: 1,124
Cell Name: ON retinal ganglion cell (CL4023032)
Fold Change: 1.91
Marker Score: 521
Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: 1.88
Marker Score: 16,177
Cell Name: ganglion interneuron (CL0000397)
Fold Change: 1.8
Marker Score: 545
Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: 1.66
Marker Score: 2,563
Cell Name: colon goblet cell (CL0009039)
Fold Change: 1.61
Marker Score: 1,170
Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 1.6
Marker Score: 1,597
Cell Name: immature innate lymphoid cell (CL0001082)
Fold Change: 1.57
Marker Score: 3,186
Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: 1.55
Marker Score: 3,888
Cell Name: astrocyte (CL0000127)
Fold Change: 1.53
Marker Score: 1,326
Cell Name: GABAergic neuron (CL0000617)
Fold Change: 1.48
Marker Score: 6,178
Cell Name: mural cell (CL0008034)
Fold Change: 1.47
Marker Score: 168,100
Cell Name: sympathetic neuron (CL0011103)
Fold Change: 1.43
Marker Score: 473
Cell Name: neuron (CL0000540)
Fold Change: 1.39
Marker Score: 5,668
Cell Name: vascular leptomeningeal cell (CL4023051)
Fold Change: 1.38
Marker Score: 1,587
Cell Name: granulocyte monocyte progenitor cell (CL0000557)
Fold Change: 1.37
Marker Score: 871
Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
Fold Change: 1.37
Marker Score: 822
Cell Name: oligodendrocyte precursor cell (CL0002453)
Fold Change: 1.3
Marker Score: 1,613
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 1.29
Marker Score: 20,232
Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: 1.26
Marker Score: 856
Cell Name: cerebral cortex endothelial cell (CL1001602)
Fold Change: 1.2
Marker Score: 716
Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: 1.18
Marker Score: 488
Cell Name: taste receptor cell (CL0000209)
Fold Change: 1.17
Marker Score: 1,015
Cell Name: goblet cell (CL0000160)
Fold Change: 1.15
Marker Score: 7,665
Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: 1.09
Marker Score: 503
Cell Name: fibroblast of cardiac tissue (CL0002548)
Fold Change: 1.09
Marker Score: 6,552
Cell Name: mature microglial cell (CL0002629)
Fold Change: 1.05
Marker Score: 380
Cell Name: early T lineage precursor (CL0002425)
Fold Change: 1.04
Marker Score: 797
Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: 1.03
Marker Score: 18,339
Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.99
Marker Score: 509
Cell Name: absorptive cell (CL0000212)
Fold Change: 0.98
Marker Score: 30,408
Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
Fold Change: 0.98
Marker Score: 463
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.95
Marker Score: 2,413
Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.94
Marker Score: 375
Cell Name: transit amplifying cell (CL0009010)
Fold Change: 0.93
Marker Score: 5,335
Cell Name: lymphocyte (CL0000542)
Fold Change: 0.93
Marker Score: 472
Cell Name: endocrine cell (CL0000163)
Fold Change: 0.93
Marker Score: 481
Cell Name: fast muscle cell (CL0000190)
Fold Change: 0.91
Marker Score: 276
Cell Name: abnormal cell (CL0001061)
Fold Change: 0.91
Marker Score: 2,740
Cell Name: epithelial cell of lower respiratory tract (CL0002632)
Fold Change: 0.91
Marker Score: 3,799
Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.91
Marker Score: 327
Cell Name: choroid plexus epithelial cell (CL0000706)
Fold Change: 0.89
Marker Score: 818
Cell Name: contractile cell (CL0000183)
Fold Change: 0.89
Marker Score: 482
Cell Name: smooth muscle cell of prostate (CL1000487)
Fold Change: 0.88
Marker Score: 224
Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.87
Marker Score: 5,287
Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.86
Marker Score: 3,612
Cell Name: podocyte (CL0000653)
Fold Change: 0.86
Marker Score: 317
Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
Fold Change: 0.85
Marker Score: 921
Cell Name: smooth muscle myoblast (CL0000514)
Fold Change: 0.84
Marker Score: 402
Cell Name: bipolar neuron (CL0000103)
Fold Change: 0.81
Marker Score: 273
Cell Name: melanocyte (CL0000148)
Fold Change: 0.81
Marker Score: 327
Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
Fold Change: 0.79
Marker Score: 1,863
Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.78
Marker Score: 1,263
Cell Name: brush cell (CL0002204)
Fold Change: 0.77
Marker Score: 704
Cell Name: glutamatergic neuron (CL0000679)
Fold Change: 0.76
Marker Score: 7,740
Cell Name: leptomeningeal cell (CL0000708)
Fold Change: 0.76
Marker Score: 377
Cell Name: renal principal cell (CL0005009)
Fold Change: 0.74
Marker Score: 567

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

**Key Characteristics:** DOCK3 is a GEF that belongs to the DOCK family of proteins, which are known to regulate the activity of small GTPases, such as Rac1, Rac2, and RhoG. DOCK3 is specifically involved in the activation of Rac1 and Rac2, which are crucial for various cellular processes, including cell migration, proliferation, and survival. Additionally, DOCK3 has been shown to interact with other signaling proteins, such as NTRK2 (also known as TRKB), and modulate their activity. **Pathways and Functions:** DOCK3 is involved in several signaling pathways, including: 1. **Neurotrophin TRK Receptor Signaling Pathway:** DOCK3 interacts with NTRK2 (TRKB) and modulates its activity, which is essential for neuronal development and survival. 2. **Rho GTPase Cycle:** DOCK3 regulates the activity of RhoGTPases, which are involved in cell migration, cytoskeleton reorganization, and cell survival. 3. **Rac GTPase Cycle:** DOCK3 activates Rac1 and Rac2, which are crucial for cell migration, proliferation, and survival. 4. **GTPase Activator Activity:** DOCK3 acts as a GEF for small GTPases, activating their GTPase activity and regulating their downstream signaling pathways. 5. **Hemostasis:** DOCK3 is involved in the regulation of platelet production and function, which is essential for maintaining hemostasis. **Clinical Significance:** Dysregulation of DOCK3 has been implicated in various diseases, including: 1. **Neurological Disorders:** Mutations in DOCK3 have been associated with neurodevelopmental disorders, such as autism spectrum disorder and schizophrenia. 2. **Cancer:** DOCK3 is overexpressed in certain types of cancer, including breast cancer and ovarian cancer, and is associated with poor prognosis. 3. **Immune Disorders:** DOCK3 is involved in the regulation of immune responses, and its dysregulation has been implicated in autoimmune diseases, such as multiple sclerosis and rheumatoid arthritis. In conclusion, DOCK3 is a multifunctional protein that plays a crucial role in regulating various signaling pathways, including those involved in cell migration, proliferation, and survival. Its dysregulation has been implicated in various diseases, highlighting the importance of further research into the molecular mechanisms underlying DOCK3 function.

Disclaimer: This summary 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.

Dedicator of cytokinesis protein 3

Genular Protein ID: 3464766755

Symbol: DOCK3_HUMAN

Name: Dedicator of cytokinesis protein 3

UniProtKB Accession Codes:

Q8IZD9 O15017

Database IDs:

Citations:

PubMed ID: 10854253

Title: Isolation and characterization of novel presenilin binding protein.

PubMed ID: 10854253

DOI: 10.1046/j.1471-4159.2000.0750109.x

PubMed ID: 14569117

Title: Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype.

PubMed ID: 14569117

DOI: 10.1136/jmg.40.10.733

PubMed ID: 9205841

Title: Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.

PubMed ID: 9205841

DOI: 10.1093/dnares/4.2.141

PubMed ID: 11696419

Title: Presenilin binding protein is associated with neurofibrillary alterations in Alzheimer's disease and stimulates tau phosphorylation.

PubMed ID: 11696419

DOI: 10.1016/s0002-9440(10)63005-2

PubMed ID: 12432077

Title: Identification of an evolutionarily conserved superfamily of DOCK180-related proteins with guanine nucleotide exchange activity.

PubMed ID: 12432077

DOI: 10.1242/jcs.00219

PubMed ID: 28195318

Title: Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability.

PubMed ID: 28195318

DOI: 10.1111/cge.12995

PubMed ID: 29130632

Title: DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia.

PubMed ID: 29130632

DOI: 10.1002/ajmg.a.38517

PubMed ID: 30976111

Title: Variants in DOCK3 cause developmental delay and hypotonia.

PubMed ID: 30976111

DOI: 10.1038/s41431-019-0397-2

Sequence Information:

Length: 2030
Mass: 233103
Checksum: FF87E874B926C1C7
Sequence:

MWTPTEEEKY GVVICSFRGS VPQGLVLEIG ETVQILEKCE GWYRGVSTKK PNVKGIFPAN 
YIHLKKAIVS NRGQYETVVP LEDSIVTEVT ATLQEWASLW KQLYVKHKVD LFYKLRHVMN 
ELIDLRRQLL SGHLTQDQVR EVKRHITVRL DWGNEHLGLD LVPRKDFEVV DSDQISVSDL 
YKMHLSSRQS VQQSTSQVDT MRPRHGETCR MPVPHHFFLS LKSFTYNTIG EDTDVFFSLY 
DMREGKQISE RFLVRLNKNG GPRNPEKIER MCALFTDLSS KDMKRDLYIV AHVIRIGRML 
LNDSKKGPPH LHYRRPYGCA VLSILDVLQS LTEVKEEKDF VLKVYTCNNE SEWSQIHENI 
IRKSSAKYSA PSASHGLIIS LQLLRGDMEQ IRRENPMIFN RGLAITRKLG FPDVIMPGDI 
RNDLYLTLEK GDFERGGKSV QKNIEVTMYV LYADGEILKD CISLGSGEPN RSSYHSFVLY 
HSNSPRWGEI IKLPIPIDRF RGSHLRFEFR HCSTKDKGEK KLFGFAFSTL MRDDGTTLSD 
DIHELYVYKC DENSTFNNHA LYLGLPCCKE DYNGCPNIPS SLIFQRSTKE SFFISTQLSS 
TKLTQNVDLL ALLKWKAFPD RIMDVLGRLR HVSGEEIVKF LQDILDTLFV ILDDNTEKYG 
LLVFQSLVFI INLLRDIKYF HFRPVMDTYI QKHFAGALAY KELIRCLKWY MDCSAELIRQ 
DHIQEAMRAL EYLFKFIVQS RILYSRATCG MEEEQFRSSI QELFQSIRFV LSLDSRNSET 
LLFTQAALLN SFPTIFDELL QMFTVQEVAE FVRGTLGSMP STVHIGQSMD VVKLQSIART 
VDSRLFSFSE SRRILLPVVL HHIHLHLRQQ KELLICSGIL GSIFSIVKTS SLEADVMEEV 
EMMVESLLDV LLQTLLTIMS KSHAQEAVRG QRCPQCTAEI TGEYVSCLLS LLRQMCDTHF 
QHLLDNFQSK DELKEFLLKI FCVFRNLMKM SVFPRDWMVM RLLTSNIIVT TVQYLSSALH 
KNFTETDFDF KVWNSYFSLA VLFINQPSLQ LEIITSAKRK KILDKYGDMR VMMAYELFSM 
WQNLGEHKIH FIPGMIGPFL GVTLVPQPEV RNIMIPIFHD MMDWEQRKNG NFKQVEAELI 
DKLDSMVSEG KGDESYRELF SLLTQLFGPY PSLLEKVEQE TWRETGISFV TSVTRLMERL 
LDYRDCMKGE ETENKKIGCT VNLMNFYKSE INKEEMYIRY IHKLCDMHLQ AENYTEAAFT 
LLLYCELLQW EDRPLREFLH YPSQTEWQRK EGLCRKIIHY FNKGKSWEFG IPLCRELACQ 
YESLYDYQSL SWIRKMEASY YDNIMEQQRL EPEFFRVGFY GRKFPFFLRN KEYVCRGHDY 
ERLEAFQQRM LSEFPQAVAM QHPNHPDDAI LQCDAQYLQI YAVTPIPDYV DVLQMDRVPD 
RVKSFYRVNN VRKFRYDRPF HKGPKDKENE FKSLWIERTT LTLTHSLPGI SRWFEVERRE 
LVEVSPLENA IQVVENKNQE LRSLISQYQH KQVHGNINLL SMCLNGVIDA AVNGGIARYQ 
EAFFDKDYIN KHPGDAEKIT QLKELMQEQV HVLGVGLAVH EKFVHPEMRP LHKKLIDQFQ 
MMRASLYHEF PGLDKLSPAC SGTSTPRGNV LASHSPMSPE SIKMTHRHSP MNLMGTGRHS 
SSSLSSHASS EAGNMVMLGD GSMGDAPEDL YHHMQLAYPN PRYQGSVTNV SVLSSSQASP 
SSSSLSSTHS APSQMITSAP SSARGSPSLP DKYRHAREMM LLLPTYRDRP SSAMYPAAIL 
ENGQPPNFQR ALFQQVVGAC KPCSDPNLSV AEKGHYSLHF DAFHHPLGDT PPALPARTLR 
KSPLHPIPAS PTSPQSGLDG SNSTLSGSAS SGVSSLSESN FGHSSEAPPR TDTMDSMPSQ 
AWNADEDLEP PYLPVHYSLS ESAVLDSIKA QPCRSHSAPG CVIPQDPMDP PALPPKPYHP 
RLPALEHDEG VLLREETERP RGLHRKAPLP PGSAKEEQAR MAWEHGRGEQ

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: DOCK3

Associated with

Cells (max top 100)

Other Information

Isolation and characterization of novel presenilin binding protein. PubMed ID: 10854253

Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype. PubMed ID: 14569117

Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. PubMed ID: 9205841

Presenilin binding protein is associated with neurofibrillary alterations in Alzheimer's disease and stimulates tau phosphorylation. PubMed ID: 11696419

Identification of an evolutionarily conserved superfamily of DOCK180-related proteins with guanine nucleotide exchange activity. PubMed ID: 12432077

Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability. PubMed ID: 28195318

DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia. PubMed ID: 29130632

Variants in DOCK3 cause developmental delay and hypotonia. PubMed ID: 30976111