Gene: SLC4A4

Alternate names for this Gene: HNBC1|KNBC|NBC1|NBC2|NBCe1-A|SLC4A5|hhNMC|kNBC1|pNBC

Gene Summary: 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.

Gene is located in Chromosome: 4

Location in Chromosome : 4q13.3

Description of this Gene: solute carrier family 4 member 4

Type of Gene: protein-coding

rs17689531 in SLC4A4 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs1530976 in SLC4A4 gene and Childhood asthma PMID 23829686 2013 Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations.

rs2363719 in SLC4A4 gene and QT interval feature (observable entity) PMID 24952745 2014 Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.

PMID 23166209 2012 Impact of ancestry and common genetic variants on QT interval in African Americans.

rs1203164637 in SLC4A4 gene and Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation PMID 15930088 2005 Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities.

PMID 15713912 2005 Missense mutations in Na+:HCO3- cotransporter NBC1 show abnormal trafficking in polarized kidney cells: a basis of proximal renal tubular acidosis.

PMID 15471865 2004 A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects.

PMID 10545938 1999 Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities.

PMID 17661077 2008 Functional analysis of a novel missense NBC1 mutation and of other mutations causing proximal renal tubular acidosis.

PMID 16636648 2006 Proximal renal tubular acidosis and ocular pathology: a novel missense mutation in the gene (SLC4A4) for sodium bicarbonate cotransporter protein (NBCe1).

rs17689531 in SLC4A4 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs2602098 in SLC4A4 gene and Suicide attempt PMID 21041247 2010 Genome-wide association study of suicide attempts in mood disorder patients.