dedicator of cytokinesis protein 8 (DOCK8)

Function

• guanine nucleotide exchange factor (GEF) (putative)

Structure

• the DHR-2 domain may mediate some GEF activity
• belongs to the DOCK family
• contains 1 DHR-1 (CZH-1) domain
• contains 1 DHR-2 (CZH-2) domain

Alternative splicing

named isoforms=3

Pathology

• defects in DOCK8 are the cause
  • hyper IgE recurrent infection syndrome autosomal recessive (AR-HIES)
  • mental retardation autosomal dominant type 2
• chromosomal translocation t(X;9) (q13.1;p24) disrupting DOCK8 has been found in a patient with mental retardation & ectodermal dysplasia

More general terms

• dedicator of cytokinesis protein (DOCK)
• phosphoprotein
• human longevity protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=81704
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:81704
• OMIM: https://mirror.omim.org/entry/243700
• OMIM: https://mirror.omim.org/entry/611432
• OMIM: https://mirror.omim.org/entry/614113
• UniProt: http://www.uniprot.org/uniprot/Q8NF50.html