LongevityMap Gene

Gene details

HGNC symbol
PITPNM3 
Aliases
NIR1; ACKR6; CORD5; RDGBA3 
Common name
PITPNM family member 3 
Description
This gene encodes a member of a family of membrane-associated phosphatidylinositol transfer domain-containing proteins. The calcium-binding protein has phosphatidylinositol (PI) transfer activity and interacts with the protein tyrosine kinase PTK2B (also known as PYK2). The protein is homologous to a Drosophila protein that is implicated in the visual transduction pathway in flies. Mutations in this gene result in autosomal dominant cone dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
Cytogenetic Location
17p13.2-p13.1
UCSC Genome Browser
View 17p13.2-p13.1 on the UCSC genome browser
OMIM
608921
Ensembl
ENSG00000091622
UniProt/Swiss-Prot
A1A5C9_HUMAN
Entrez Gene
83394
UniGene
183983
1000 Genomes
1000 Genomes

Homologs in model organisms

Caenorhabditis elegans
pitp-1
Danio rerio
BX571984.2
Mus musculus
Pitpnm3
Rattus norvegicus
Pitpnm3

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
rs9916344
Reference