LongevityMap Gene

Gene details

HGNC symbol
ANKK1 
Aliases
PKK2 
Common name
ankyrin repeat and kinase domain containing 1 
Description
The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and protein kinase superfamily involved in signal transduction pathways. This gene is closely linked to DRD2 gene (GeneID:1813) on chr 11, and a well studied restriction fragment length polymorphism (RFLP) designated TaqIA, was originally associated with the DRD2 gene, however, later was determined to be located in exon 8 of ANKK1 gene (PMIDs: 18621654, 15146457), where it causes a nonconservative amino acid substitution. It is not clear if this gene plays any role in neuropsychiatric disorders previously associated with Taq1A RFLP. [provided by RefSeq, Sep 2009]
Cytogenetic Location
11q23.2
UCSC Genome Browser
View 11q23.2 on the UCSC genome browser
OMIM
608774
Ensembl
ENSG00000170209
UniProt/Swiss-Prot
ANKK1_HUMAN
Entrez Gene
255239
UniGene
448473
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
ankk1
Mus musculus
Ankk1
Rattus norvegicus
Ankk1

Studies (1)

Significant/Non-significant: 0/1

Longevity Association
Non-significant
Population
Italian (Southern)
Study Design
A two-stage case-control study was performed to identify the association between longevity and variation of in homeostasis regulation pathway genes. 317 SNPs in 104 genes were analyzed in 78 cases (≥90 years, median age 98 years, 42 females) and 71 controls (<90 years, median age 67 years, 32 females) in stage 1. Then, 31 candidate SNPs identified in stage 1 (π markers = 0.1) were analyzed in an independent sample composed by 288 cases (≥90 years, median age 92 years, 163 females) and 554 controls (<90 years, median age 67 years, 277 females).
Conclusions
After adjustment for multiple testing, no significant association was identified between various SNPs and longevity.
Indentifier
rs1800497
Reference