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
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