LongevityMap Gene

Gene details

HGNC symbol
DOCK8 
Aliases
MRD2; ZIR8; HEL-205 
Common name
dedicator of cytokinesis 8 
Description
This gene encodes a member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene result in the autosomal recessive form of the hyper-IgE syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jun 2010]
Cytogenetic Location
9p24.3
UCSC Genome Browser
View 9p24.3 on the UCSC genome browser
OMIM
611432
Ensembl
ENSG00000107099
UniProt/Swiss-Prot
DOCK8_HUMAN
Entrez Gene
81704
UniGene
132599
1000 Genomes
1000 Genomes

Homologs in model organisms

Caenorhabditis elegans
CELE_F46H5.4
Danio rerio
dock8
Drosophila melanogaster
Zir
Mus musculus
Dock8
Rattus norvegicus
Dock8

Studies (1)

Significant/Non-significant: 1/0

Longevity Association
Significant
Population
American (Caucasian)
Study Design
Genome-wide association study in 801 centenarians and 914 healthy controls
Conclusions
281 SNPs were found to discriminate between cases and controls
Indentifier
rs750586
Reference