Entity Details

Primary name DOCK8_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8NF50
EntryNameDOCK8_HUMAN
FullNameDedicator of cytokinesis protein 8
TaxID9606
Evidenceevidence at protein level
Length2099
SequenceStatuscomplete
DateCreated2003-07-03
DateModified2021-06-02

Ontological Relatives

GenesDOCK8

GO terms

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GOName
GO:0001771 immunological synapse formation
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005737 cytoplasm
GO:0007264 small GTPase mediated signal transduction
GO:0016020 membrane
GO:0031256 leading edge membrane
GO:0031258 lamellipodium membrane
GO:0036336 dendritic cell migration
GO:0043547 positive regulation of GTPase activity
GO:0061485 memory T cell proliferation
GO:0070233 negative regulation of T cell apoptotic process
GO:1903905 positive regulation of establishment of T cell polarity
GO:1990869 cellular response to chemokine
GO:2000406 positive regulation of T cell migration

Subcellular Location

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Subcellular Location
Cell membrane
Cell projection
Cytoplasm

Domains

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DomainNameCategoryType
IPR016024 Armadillo-type foldFamilyHomologous superfamily
IPR021816 Dedicator of cytokinesis C/D, N-terminalDomainDomain
IPR026791 Dedicator of cytokinesisFamilyFamily
IPR027007 C2 DOCK-type domainDomainDomain
IPR027357 DOCKER domainDomainDomain
IPR035892 C2 domain superfamilyFamilyHomologous superfamily
IPR037808 Dedicator of cytokinesis C, C2 domainDomainDomain
IPR043161 Dedicator of cytokinesis, C-terminal, lobe AFamilyHomologous superfamily
IPR043162 Dedicator of cytokinesis, C-terminal, lobe CFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
243700 OMIMHyper-IgE recurrent infection syndrome 2, autosomal recessive (HIES2)A rare disorder characterized by immunodeficiency, recurrent infections, eczema, increased serum IgE, eosinophilia and lack of connective tissue and skeletal involvement. The disease is caused by variants affecting the gene represented in this entry.
614113 OMIMMental retardation, autosomal dominant 2 (MRD2)A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration disrupting DOCK8 has been found in a patient with mental retardation and ectodermal dysplasia. A balanced translocation, t(X;9) (q13.1;p24). A genomic deletion of approximately 230 kb in subtelomeric 9p has been detected in a patient with mental retardation.

Interactions

34 interactions

InteractorPartnerSourcesPublicationsLink
DOCK8_HUMANSMAD2_HUMANBioGRID, MINT15231748 details
DOCK8_HUMANLRCH3_HUMANBioGRID, IntAct24255178 25416956 28514442 32203420 details
DOCK8_HUMANLRCH1_HUMANBioGRID, IntAct24255178 25416956 28514442 31515488 32203420 details
DOCK8_HUMANCHM2A_HUMANBioGRID, IntAct25416956 details
DOCK8_HUMANHBAZ_HUMANBioGRID, IntAct25416956 details
DOCK8_HUMANBYST_HUMANBioGRID, IntAct25416956 details
DOCK8_HUMANRTP5_HUMANBioGRID, IntAct25416956 details
DOCK8_HUMANF161A_HUMANBioGRID, IntAct25416956 details
DOCK8_HUMANF124A_HUMANBioGRID, IntAct25416956 details
DOCK8_HUMANMEOX2_HUMANBioGRID, IntAct25416956 32296183 details
DOCK8_HUMANK1C40_HUMANBioGRID, IntAct25416956 details
DOCK8_HUMANMED30_HUMANBioGRID, IntAct25416956 details
DOCK8_HUMANEXOS5_HUMANBioGRID, IntAct25416956 details
DOCK8_HUMANFANCL_HUMANBioGRID, IntAct25416956 details
DOCK8_HUMANFXL12_HUMANBioGRID, IntAct25416956 29892012 details
DOCK8_HUMANZN581_HUMANBioGRID, IntAct25416956 details
DOCK8_HUMANCHSP1_HUMANBioGRID, IntAct25416956 details
DOCK8_HUMANDOCK8_HUMANBioGRID, IntAct25416956 details
DOCK8_HUMANPIMRE_HUMANBioGRID, IntAct26871637 details
DOCK8_HUMANCOG6_HUMANBioGRID, IntAct32296183 details
DOCK8_HUMANHSF2B_HUMANBioGRID, IntAct32296183 details
DOCK8_HUMANCDC42_HUMANBioGRID, HPRD15304341 details
DOCK8_HUMANRAC1_HUMANBioGRID, HPRD15304341 details
DOCK8_HUMANDGCR6_HUMANBioGRID24722188 details
DOCK8_HUMANRM38_HUMANBioGRID25416956 details
DOCK8_HUMANMTG1_HUMANBioGRID25416956 details
DOCK8_HUMANZC3H1_HUMANBioGRID25416956 details
DOCK8_HUMANRHOQ_HUMANHPRD15304341 details
DOCK8_HUMANRHOJ_HUMANHPRD15304341 details
DOCK8_HUMANMYD88_HUMANInnateDB22581261 details
DOCK8_HUMANSRC_HUMANInnateDB22581261 details
DOCK8_HUMANLYN_HUMANInnateDB22581261 details
DOCK8_HUMANLRCH2_HUMANBioGRID, IntAct24255178 28514442 32203420 details
DOCK8_HUMANLRCH4_HUMANBioGRID, IntAct28514442 32203420 details