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

Danio rerio
si:ch211-239j15.1
Mus musculus
Impg2
Rattus norvegicus
Impg2

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