InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DOCK8

Summary

InnateDB Protein

IDBP-361348.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DOCK8

Protein Name

dedicator of cytokinesis 8

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000408464

InnateDB Gene

IDBG-43444 (DOCK8)

Protein Structure

UniProt Annotation

Function

Potential guanine nucleotide exchange factor (GEF). GEF proteins activate some small GTPases by exchanging bound GDP for free GTP (By similarity). {ECO:0000250}.

Subcellular Localization

Disease Associations

Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive (AR-HIES) [MIM:243700]: A rare disorder characterized by immunodeficiency, recurrent infections, eczema, increased serum IgE, eosinophilia and lack of connective tissue and skeletal involvement. {ECO:0000269PubMed:19776401}. Note=The disease is caused by mutations affecting the gene represented in this entry.Mental retardation, autosomal dominant 2 (MRD2) [MIM:614113]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269PubMed:18060736}. Note=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.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	25 [view]
Protein-Protein	24 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005085	guanyl-nucleotide exchange factor activity
GO:0005488	binding
GO:0005515	protein binding

Biological Process

GO:0007264	small GTPase mediated signal transduction
GO:0007596	blood coagulation
GO:0043547	positive regulation of GTPase activity
GO:0061485	memory T cell proliferation