LongevityMap Gene
Gene details
- HGNC symbol
- IMPG2
- Aliases
- RP56; VMD5; IPM200; SPACRCAN
- Common name
- interphotoreceptor matrix proteoglycan 2
- Description
- The protein encoded by this gene binds chondroitin sulfate and hyaluronan and is a proteoglycan. The encoded protein plays a role in the organization of the interphotoreceptor matrix and may promote the growth and maintenance of the light-sensitive photoreceptor outer segment. Defects in this gene are a cause of retinitis pigmentosa type 56 and maculopathy, IMPG2-related.[provided by RefSeq, Mar 2011]
- Cytogenetic Location
- 3q12.3
- UCSC Genome Browser
- View 3q12.3 on the UCSC genome browser
- OMIM
- 607056
- Ensembl
- ENSG00000081148
- UniProt/Swiss-Prot
- F1T0J3_HUMAN
- Entrez Gene
- 50939
- UniGene
- 209249
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
Studies (1)
Significant/Non-significant: 0/1
- Longevity Association
- Non-significant
- Population
- Italian
- Study Design
- Genome-wide association study on 410 long-living individuals (age range, 90–109 years) and 553 young control individuals (age range, 18–48 years) using 318,237 SNPs. An independent population with 116 long-lived individuals and 160 controls was used for replication purposes.
- Conclusions
- A total of 67 SNPs were identified with an indication of potentially being associated with longevity (p < 1 × 10−4), though 66 were not further validated
- Indentifier
- rs513154
- Reference