SLC4A2 Chromosome 7

Solute carrier family 4 member 2

3 variants 3 Health Risk

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What This Gene Does

This gene encodes a member of the anion exchanger family of membrane transport proteins. The encoded protein regulates intracellular pH, biliary bicarbonate secretion, and chloride uptake. Reduced expression of this gene may be associated with primary biliary cirrhosis (PBC) in human patients, while differential expression of this gene may be associated with malignant hepatocellular carcinoma, colon and gastric cancers. [provided by RefSeq, Nov 2016]

Gene Info

Gene Group

Solute carrier family 4

Locus Type

gene with protein product

Location

7q36.1

Ensembl

ENSG00000164889

Associated Conditions (3)

Distal renal tubular acidosis

Osteopetrosis

autosomal recessive 9

Key Variants

RS1430578614

Likely pathogenic

Distal renal tubular acidosis, Distal renal tubular acidosis

Health Risk

RS1353493677

Pathogenic

Osteopetrosis, autosomal recessive 9, Osteopetrosis

Health Risk

RS1797182637

Pathogenic

Osteopetrosis, autosomal recessive 9, Osteopetrosis

Health Risk

All Variants (3)

RSID	Category	Clinical Significance	Conditions
RS1430578614	Health Risk	Likely pathogenic	Distal renal tubular acidosis, Distal renal tubular acidosis
RS1353493677	Health Risk	Pathogenic	Osteopetrosis, autosomal recessive 9, Osteopetrosis
RS1797182637	Health Risk	Pathogenic	Osteopetrosis, autosomal recessive 9, Osteopetrosis