LongevityMap Gene

Gene details

HGNC symbol
SLC4A4 
Aliases
KNBC; NBC1; NBC2; pNBC; HNBC1; hhNMC; kNBC1; SLC4A5; NBCe1-A 
Common name
solute carrier family 4 member 4 
Description
This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal renal tubular acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
Cytogenetic Location
4q13.3
UCSC Genome Browser
View 4q13.3 on the UCSC genome browser
OMIM
603345
Ensembl
ENSG00000080493
UniProt/Swiss-Prot
A0A024RD97_HUMAN
Entrez Gene
8671
UniGene
5462
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
slc4a4a
Mus musculus
Slc4a4
Rattus norvegicus
Slc4a4

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
rs7656234
Reference