Gene: SLC4A7

Alternate names for this Gene: NBC2|NBC3|NBCN1|SBC2|SLC4A6

Gene Summary: This locus encodes a sodium bicarbonate cotransporter. The encoded transmembrane protein appears to transport sodium and bicarbonate ions in a 1:1 ratio, and is thus considered an electroneutral cotransporter. The encoded protein likely plays a critical role in regulation of intracellular pH involved in visual and auditory sensory transmission. Alternatively spliced transcript variants encoding distinct isoforms have been described.

Gene is located in Chromosome: 3

Location in Chromosome : 3p24.1

Description of this Gene: solute carrier family 4 member 7

Type of Gene: protein-coding

rs450189 in SLC4A7 gene and Alcohol consumption PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

rs4973768 in SLC4A7 gene and Breast Carcinoma PMID 21263130 2011 Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study.

PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

PMID 20453838 2010 Genome-wide association study identifies five new breast cancer susceptibility loci.

PMID 25751625 2015 Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.

PMID 19330027 2009 Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2.

rs11716531 in SLC4A7 gene and Diastolic blood pressure PMID 28739976 2017 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.

PMID 29455858 2018 A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.

PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

rs4973768 in SLC4A7 gene and Malignant neoplasm of breast PMID 19330027 2009 Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2.

PMID 20453838 2010 Genome-wide association study identifies five new breast cancer susceptibility loci.

PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

PMID 21263130 2011 Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study.

rs3755652 in SLC4A7 gene and Mean blood pressure PMID 27618448 2016 Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.

rs6771541 in SLC4A7 gene and Plexiform leiomyoma PMID 30194396 2018 Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits.

rs13063291 in SLC4A7 gene and Systolic Pressure PMID 29455858 2018 A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.

PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

rs60605842 in SLC4A7 gene and Systolic blood pressure measurement PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

rs6771541 in SLC4A7 gene and Uterine Fibroids PMID 30194396 2018 Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits.