Details for: DIAPH2

Gene ID: 1730

Symbol: DIAPH2

Ensembl ID: ENSG00000147202

Description: diaphanous related formin 2

Associated with

Cells (max top 100)

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

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 452.4729
    Cell Significance Index: -70.3800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 265.0966
    Cell Significance Index: -67.2400
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 149.2409
    Cell Significance Index: -70.4600
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 137.0314
    Cell Significance Index: -55.6700
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 125.6062
    Cell Significance Index: -64.6100
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 58.4870
    Cell Significance Index: -55.8400
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 57.0905
    Cell Significance Index: -70.3900
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 25.8660
    Cell Significance Index: -56.6100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 25.3186
    Cell Significance Index: -67.8300
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 19.9498
    Cell Significance Index: -61.2800
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 17.8660
    Cell Significance Index: -70.5000
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 7.6791
    Cell Significance Index: 52.0300
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 6.0367
    Cell Significance Index: 117.8200
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 5.5247
    Cell Significance Index: 142.0100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 5.1680
    Cell Significance Index: 347.5000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 4.7554
    Cell Significance Index: 210.3400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 4.5160
    Cell Significance Index: 171.0100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 4.2769
    Cell Significance Index: 114.2000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 3.0848
    Cell Significance Index: 86.2100
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 2.6902
    Cell Significance Index: 65.6400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 2.5375
    Cell Significance Index: 194.7300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.5295
    Cell Significance Index: 507.4100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 2.5280
    Cell Significance Index: 501.6900
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: 2.4445
    Cell Significance Index: 24.6600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 2.2380
    Cell Significance Index: 101.4400
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 2.0545
    Cell Significance Index: 33.1500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 2.0226
    Cell Significance Index: 113.5000
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.8641
    Cell Significance Index: 26.8100
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: 1.8639
    Cell Significance Index: 23.4700
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 1.8313
    Cell Significance Index: 52.2600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 1.6350
    Cell Significance Index: 40.8700
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.4972
    Cell Significance Index: 25.2200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.4000
    Cell Significance Index: 30.3300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.3548
    Cell Significance Index: 485.9300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.3073
    Cell Significance Index: 37.6700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.2980
    Cell Significance Index: 141.1900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.2681
    Cell Significance Index: 1145.0200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 1.0384
    Cell Significance Index: 54.0900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.9884
    Cell Significance Index: 683.6300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.8905
    Cell Significance Index: 23.8600
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.6048
    Cell Significance Index: 8.6900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.6031
    Cell Significance Index: 383.0000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.4828
    Cell Significance Index: 909.0300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.4810
    Cell Significance Index: 218.2900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.3210
    Cell Significance Index: 11.2800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.3159
    Cell Significance Index: 43.3800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.3148
    Cell Significance Index: 428.0500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2961
    Cell Significance Index: 53.3700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1974
    Cell Significance Index: 107.7900
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.1459
    Cell Significance Index: 1.1900
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: 0.1440
    Cell Significance Index: 0.8700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.1214
    Cell Significance Index: 7.4600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0982
    Cell Significance Index: 151.1500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0962
    Cell Significance Index: 11.8300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0702
    Cell Significance Index: 31.0300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0658
    Cell Significance Index: 121.3600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0595
    Cell Significance Index: 11.3200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0013
    Cell Significance Index: 0.2100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0173
    Cell Significance Index: -1.8000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0728
    Cell Significance Index: -55.0700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0752
    Cell Significance Index: -55.1700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0763
    Cell Significance Index: -56.5100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.1158
    Cell Significance Index: -65.3100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: -0.1202
    Cell Significance Index: -11.8900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1265
    Cell Significance Index: -8.1600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.1278
    Cell Significance Index: -79.8200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1423
    Cell Significance Index: -6.6300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1745
    Cell Significance Index: -29.7900
  • Cell Name: subcutaneous adipocyte (CL0002521)
    Fold Change: -0.1861
    Cell Significance Index: -0.8100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1892
    Cell Significance Index: -27.5000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.2116
    Cell Significance Index: -60.8800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2309
    Cell Significance Index: -10.8500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.2489
    Cell Significance Index: -4.2700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.2618
    Cell Significance Index: -33.5600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.3458
    Cell Significance Index: -40.3000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.3482
    Cell Significance Index: -35.5700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.3643
    Cell Significance Index: -76.7300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.3808
    Cell Significance Index: -49.2000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.3871
    Cell Significance Index: -45.6500
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.4533
    Cell Significance Index: -6.6900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.4947
    Cell Significance Index: -25.7000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.5530
    Cell Significance Index: -7.5500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.5574
    Cell Significance Index: -63.8600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.6882
    Cell Significance Index: -48.6700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.7601
    Cell Significance Index: -60.2000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.7897
    Cell Significance Index: -49.7800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.8379
    Cell Significance Index: -17.8500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.8606
    Cell Significance Index: -64.1400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.9357
    Cell Significance Index: -25.0300
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.9571
    Cell Significance Index: -14.1300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -1.0936
    Cell Significance Index: -67.0500
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -1.1262
    Cell Significance Index: -27.0100
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -1.1549
    Cell Significance Index: -16.4400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -1.1887
    Cell Significance Index: -62.4100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -1.2977
    Cell Significance Index: -37.2000
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -1.3160
    Cell Significance Index: -16.4100
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -1.3455
    Cell Significance Index: -29.0700
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -1.3542
    Cell Significance Index: -47.4400
  • Cell Name: peg cell (CL4033014)
    Fold Change: -1.3682
    Cell Significance Index: -31.6100
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -1.3934
    Cell Significance Index: -44.6300

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.

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 cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

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 cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Formin Protein Function:** DIAPH2 encodes a formin protein, which is a member of the formin family of proteins. Formins are essential for the polymerization of actin filaments, which are crucial for maintaining cellular structure, shape, and motility. 2. **Cellular Localization:** DIAPH2 is expressed in a wide range of cell types, including those involved in immune responses, such as microglia and macrophages, as well as in tissues such as the placenta (syncytiotrophoblast cells) and skeletal muscle (skeletal muscle fibers). 3. **Signaling Pathways:** DIAPH2 is involved in various signaling pathways, including the Rho GTPase cycle, which regulates actin filament dynamics and cytoskeleton organization. 4. **Protein Structure:** The DIAPH2 protein consists of three distinct domains: an N-terminal domain, a middle domain, and a C-terminal domain. These domains interact with actin filaments, Rho GTPases, and other proteins to regulate cellular processes. **Pathways and Functions:** 1. **Actin Filament Polymerization:** DIAPH2 regulates the polymerization of actin filaments, which is essential for maintaining cellular structure, shape, and motility. 2. **Cytoskeleton Dynamics:** DIAPH2 participates in the regulation of cytoskeleton dynamics, including the formation and disassembly of actin filaments, which is crucial for cellular processes such as migration, division, and signaling. 3. **Signaling by Rho GTPases:** DIAPH2 interacts with Rho GTPases to regulate signaling pathways involved in cellular processes such as cell migration, proliferation, and differentiation. 4. **Immune Cell Function:** DIAPH2 is expressed in immune cells such as microglia and macrophages, where it regulates their function, including phagocytosis, cytokine production, and immune cell migration. **Clinical Significance:** 1. **Cancer:** Dysregulation of DIAPH2 has been implicated in various cancers, including breast, lung, and colon cancer. Overexpression of DIAPH2 has been associated with tumor progression, metastasis, and poor prognosis. 2. **Neurological Disorders:** DIAPH2 has been implicated in neurological disorders such as Alzheimer's disease, Parkinson's disease, and multiple sclerosis. Dysregulation of DIAPH2 has been associated with neuronal dysfunction and degeneration. 3. **Cardiovascular Conditions:** DIAPH2 has been implicated in cardiovascular conditions such as atherosclerosis and hypertension. Dysregulation of DIAPH2 has been associated with vascular dysfunction and disease progression. 4. **Immune-Mediated Diseases:** DIAPH2 has been implicated in immune-mediated diseases such as autoimmune disorders and inflammatory conditions. Dysregulation of DIAPH2 has been associated with immune cell dysfunction and disease progression. In conclusion, DIAPH2 is a complex gene with far-reaching implications in cellular processes and disease. Its dysregulation has been implicated in various diseases, including cancer, neurological disorders, and cardiovascular conditions. Further research is necessary to elucidate the mechanisms by which DIAPH2 regulates cellular processes and to explore its therapeutic potential.

Genular Protein ID: 3608270893

Symbol: DIAP2_HUMAN

Name: Protein diaphanous homolog 2

UniProtKB Accession Codes:

O60879 A6NG19 O60878 Q8WX06 Q8WX48 Q9UJL2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChiTaRS 1 DIP 1 DNASU 1 DisGeNET 1 EMBL 10 Ensembl 2 ExpressionAtlas 1 GO 12 Gene3D 6 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 10 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 3 RefSeq 2 SIGNOR 1 SMART 3 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9497258

Title: A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility.

PubMed ID: 9497258

DOI: 10.1086/301761

PubMed ID: 12577064

Title: RhoD regulates endosome dynamics through diaphanous-related formin and Src tyrosine kinase.

PubMed ID: 12577064

DOI: 10.1038/ncb935

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

Sequence Information:

  • Length: 1101
  • Mass: 125569
  • Checksum: 399F1C292D79188B
  • Sequence:
    • MEQPGAAASG AGGGSEEPGG GRSNKRSAGN RAANEEETKN KPKLNIQIKT LADDVRDRIT 
SFRKSTVKKE KPLIQHPIDS QVAMSEFPAA QPLYDERSLN LSEKEVLDLF EKMMEDMNLN 
EEKKAPLRNK DFTTKREMVV QYISATAKSG GLKNSKHECT LSSQEYVHEL RSGISDEKLL 
NCLESLRVSL TSNPVSWVNN FGHEGLGLLL DELEKLLDKK QQENIDKKNQ YKLIQCLKAF 
MNNKFGLQRI LGDERSLLLL ARAIDPKQPN MMTEIVKILS AICIVGEENI LDKLLGAITT 
AAERNNRERF SPIVEGLENQ EALQLQVACM QFINALVTSP YELDFRIHLR NEFLRSGLKT 
MLPDLKEKEN DELDIQLKVF DENKEDDLTE LSHRLNDIRA EMDDMNEVYH LLYNMLKDTA 
AENYFLSILQ HFLLIRNDYY IRPQYYKIIE ECVSQIVLHC SGMDPDFKYR QRLDIDLTHL 
IDSCVNKAKV EESEQKAAEF SKKFDEEFTA RQEAQAELQK RDEKIKELEA EIQQLRTQAQ 
VLSSSSGIPG PPAAPPLPGV GPPPPPPAPP LPGGAPLPPP PPPLPGMMGI PPPPPPPLLF 
GGPPPPPPLG GVPPPPGISL NLPYGMKQKK MYKPEVSMKR INWSKIEPTE LSENCFWLRV 
KEDKFENPDL FAKLALNFAT QIKVQKNAEA LEEKKTGPTK KKVKELRILD PKTAQNLSIF 
LGSYRMPYED IRNVILEVNE DMLSEALIQN LVKHLPEQKI LNELAELKNE YDDLCEPEQF 
GVVMSSVKML QPRLSSILFK LTFEEHINNI KPSIIAVTLA CEELKKSESF NRLLELVLLV 
GNYMNSGSRN AQSLGFKINF LCKIRDTKSA DQKTTLLHFI ADICEEKYRD ILKFPEELEH 
VESASKVSAQ ILKSNLASME QQIVHLERDI KKFPQAENQH DKFVEKMTSF TKTAREQYEK 
LSTMHNNMMK LYENLGEYFI FDSKTVSIEE FFGDLNNFRT LFLEAVRENN KRREMEEKTR 
RAKLAKEKAE QEKLERQKKK KQLIDINKEG DETGVMDNLL EALQSGAAFR DRRKRIPRNP 
DNRRVPLERS RSRHNGAISS K

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.