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
- 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