DOCK8 Potential guanine nucleotide exchange factor (GEF). GEF proteins activate some small GTPases by exchanging bound GDP for free GTP. Defects in DOCK8 are the cause of hyperimmunoglobulin E recurrent infection syndrome autosomal recessive (AR-HIES). It is a rare disorder of immunity characterized by immunodeficiency, recurrent infections, eczema, increased serum IgE, eosinophilia and lack of connective tissue and skeletal involvement. Defects in DOCK8 are the cause of mental retardation autosomal dominant type 2 (MRD2). Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. A chromosomal aberration disrupting DOCK8 has been found in a patient with mental retardation and ectodermal dysplasia. DOCK8 is disrupted in patients with mental retardation. A balanced translocation, t(X;9) (q13.1;p24). Belongs to the DOCK family. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: GEF; GEF, misc.; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 9p24.3
Cellular Component:  cytoplasm; cytosol
Molecular Function:  guanyl-nucleotide exchange factor activity; protein binding
Biological Process:  blood coagulation; cellular response to chemokine; formation of immunological synapse; positive regulation of establishment of T cell polarity; positive regulation of GTPase activity; positive regulation of T cell migration; small GTPase mediated signal transduction
Disease: Hyper-ige Recurrent Infection Syndrome, Autosomal Recessive
Reference #:  Q8NF50 (UniProtKB)
Alt. Names/Synonyms: 1200017A24Rik; dedicator of cytokinesis 8; Dedicator of cytokinesis protein 8; DOCK8; FLJ00026; FLJ00152; FLJ00346; MRD2; ZIR8
Gene Symbols: DOCK8
Molecular weight: 238,529 Da
Basal Isoelectric point: 6.43  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

Cross-references to other databases:  STRING  |  cBioPortal  |  Wikipedia  |  Reactome  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene  |  Ensembl Protein