• Gene id: 9732

Gene Summary

• Gene Symbol: DOCK4   Gene   UCSC   Ensembl
• Gene name: dedicator of cytokinesis 4
• Alternate names: dedicator of cytokinesis protein 4,
• Gene location: 7q31.1 (112206398: 111726109)     Exons: 55     NC_000007.14
• Gene summary(Entrez): This gene is a member of the dedicator of cytokinesis (DOCK) family and encodes a protein with a DHR-1 (CZH-1) domain, a DHR-2 (CZH-2) domain and an SH3 domain. This membrane-associated, cytoplasmic protein functions as a guanine nucleotide exchange facto
• OMIM: 608724

Protein Summary

• Protein general information: Q8N1I0  
  • Name: Dedicator of cytokinesis protein 4
  • Length: 1966  
  • Mass: 225206
  • Tissue specificity: Widely expressed at low level. Highly expressed in skeletal muscle, prostate and ovary. {ECO
• Sequence:

  MWIPTEHEKYGVVIASFRGTVPYGLSLEIGDTVQILEKCDGWYRGFALKNPNIKGIFPSSYVHLKNACVKNKGQF
  EMVIPTEDSVITEMTSTLRDWGTMWKQLYVRNEGDLFHRLWHIMNEILDLRRQVLVGHLTHDRMKDVKRHITARL
  DWGNEQLGLDLVPRKEYAMVDPEDISITELYRLMEHRHRKKDTPVQASSHHLFVQMKSLMCSNLGEELEVIFSLF
  DSKENRPISERFFLRLNRNGLPKAPDKPERHCSLFVDLGSSELRKDIYITVHIIRIGRMGAGEKKNACSVQYRRP
  FGCAVLSIADLLTGETKDDLILKVYMCNTESEWYQIHENIIKKLNARYNLTGSNAGLAVSLQLLHGDIEQIRREY
  SSVFSHGVSITRKLGFSNIIMPGEMRNDLYITIERGEFEKGGKSVARNVEVTMFIVDSSGQTLKDFISFGSGEPP
  ASEYHSFVLYHNNSPRWSELLKLPIPVDKFRGAHIRFEFRHCSTKEKGEKKLFGFSFVPLMQEDGRTLPDGTHEL
  IVHKCEENTNLQDTTRYLKLPFSKGIFLGNNNQAMKATKESFCITSFLCSTKLTQNGDMLDLLKWRTHPDKITGC
  LSKLKEIDGSEIVKFLQDTLDTLFGILDENSQKYGSKVFDSLVHIINLLQDSKFHHFKPVMDTYIESHFAGALAY
  RDLIKVLKWYVDRITEAERQEHIQEVLKAQEYIFKYIVQSRRLFSLATGGQNEEEFRCCIQELLMSVRFFLSQES
  KGSGALSQSQAVFLSSFPAVYSELLKLFDVREVANLVQDTLGSLPTILHVDDSLQAIKLQCIGKTVESQLYTNPD
  SRYILLPVVLHHLHIHLQEQKDLIMCARILSNVFCLIKKNSSEKSVLEEIDVIVASLLDILLRTILEITSRPQPS
  SSAMRFQFQDVTGEFVACLLSLLRQMTDRHYQQLLDSFNTKEELRDFLLQIFTVFRILIRPEMFPKDWTVMRLVA
  NNVIITTVLYLSDALRKNFLNENFDYKIWDSYFYLAVIFINQLCLQLEMFTPSKKKKVLEKYGDMRVTMGCEIFS
  MWQNLGEHKLHFIPALIGPFLEVTLIPQPDLRNVMIPIFHDMMDWEQRRSGNFKQVEAKLIDKLDSLMSEGKGDE
  TYRELFNSILLKKIERETWRESGVSLIATVTRLMERLLDYRDCMKMGEVDGKKIGCTVSLLNFYKTELNKEEMYI
  RYIHKLYDLHLKAQNFTEAAYTLLLYDELLEWSDRPLREFLTYPMQTEWQRKEHLHLTIIQNFDRGKCWENGIIL
  CRKIAEQYESYYDYRNLSKMRMMEASLYDKIMDQQRLEPEFFRVGFYGKKFPFFLRNKEFVCRGHDYERLEAFQQ
  RMLNEFPHAIAMQHANQPDETIFQAEAQYLQIYAVTPIPESQEVLQREGVPDNIKSFYKVNHIWKFRYDRPFHKG
  TKDKENEFKSLWVERTSLYLVQSLPGISRWFEVEKREVVEMSPLENAIEVLENKNQQLKTLISQCQTRQMQNINP
  LTMCLNGVIDAAVNGGVSRYQEAFFVKEYILSHPEDGEKIARLRELMLEQAQILEFGLAVHEKFVPQDMRPLHKK
  LVDQFFVMKSSLGIQEFSACMQASPVHFPNGSPRVCRNSAPASVSPDGTRVIPRRSPLSYPAVNRYSSSSLSSQA
  SAEVSNITGQSESSDEVFNMQPSPSTSSLSSTHSASPNVTSSAPSSARASPLLSDKHKHSRENSCLSPRERPCSA
  IYPTPVEPSQRMLFNHIGDGALPRSDPNLSAPEKAVNPTPSSWSLDSGKEAKNMSDSGKLISPPVPPRPTQTASP
  ARHTTSVSPSPAGRSPLKGSVQSFTPSPVEYHSPGLISNSPVLSGSYSSGISSLSRCSTSETSGFENQVNEQSAP
  LPVPVPVPVPSYGGEEPVRKESKTPPPYSVYERTLRRPVPLPHSLSIPVTSEPPALPPKPLAARSSHLENGARRT
  DPGPRPRPLPRKVSQL

• Structural information:
  • Protein Domains: (6..6-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (401..57-)
    (/note="C2-DOCK-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00983-)
    (1190..159-)
    (/note="DOCKER-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00984"-)
  • Interpro: IPR037811  IPR035892  IPR027007  IPR027357  IPR026791   IPR037014  IPR035769  IPR010703  IPR032376  IPR042455  IPR036028  IPR001452  
  • Prosite: PS51650 PS51651 PS50002
  • CDD: cd08695 cd12049
  • STRING: ENSP00000404179
• Other Databases: GeneCards:  DOCK4  Malacards:  DOCK4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0048365	Rac GTPase binding	IDA	molecular function
GO:0030165	PDZ domain binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0032420	stereocilium	ISS	cellular component
GO:0032421	stereocilium bundle	ISS	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0030676	Rac guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0016020	membrane	IDA	cellular component
GO:0060326	cell chemotaxis	IMP	biological process
GO:0030971	receptor tyrosine kinase binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0007264	small GTPase mediated signal transduction	IEA	biological process
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0032421	stereocilium bundle	IEA	cellular component
GO:0032420	stereocilium	IEA	cellular component
GO:1904754	positive regulation of vascular associated smooth muscle cell migration	IMP	biological process
GO:1904694	negative regulation of vascular smooth muscle contraction	IMP	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0043547	positive regulation of GTPase activity	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04015	Rap1 signaling pathway

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray