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
- Danio rerio
- slc4a4b
- Mus musculus
- Slc4a4
- Rattus norvegicus
- Slc4a4
- Saccharomyces cerevisiae
- BOR1
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