LongevityMap Gene

Gene details

HGNC symbol
ABCC4 
Aliases
MRP4; MOATB; MOAT-B 
Common name
ATP binding cassette subfamily C member 4 
Description
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This family member plays a role in cellular detoxification as a pump for its substrate, organic anions. It may also function in prostaglandin-mediated cAMP signaling in ciliogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]
Cytogenetic Location
13q32.1
UCSC Genome Browser
View 13q32.1 on the UCSC genome browser
OMIM
605250
Ensembl
ENSG00000125257
UniProt/Swiss-Prot
A8K2Q2_HUMAN
Entrez Gene
10257
UniGene
508423
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
abcc4
Drosophila melanogaster
CG9270
Mus musculus
Abcc4
Rattus norvegicus
Abcc4

Studies (1)

Significant/Non-significant: 1/0

Longevity Association
Significant
Population
American (Caucasian)
Study Design
Genome-wide association study using 1,471 genotyped participants from the Framingham Heart Study, of which 1,173 individuals had known lifespans, plus 517 individuals from the Offspring cohort for validating connections between longevity and genetic variants
Conclusions
A total of 27 SNPs, including in CDH4, SVEP1, CACNA1C, CARS, STK24, C7orf50, PARVG, NCAM2, PPP2R2C, NLRC5, BTBD9, RAC2, TGFA, KIAA0649, ABCC4, CLSTN2, FAM19A5 and RUNX3, were identified at the intersection of various statistical procedures
Indentifier
rs4148544
Reference