SLC4A2
Function
Sodium-independent anion exchanger which mediates the electroneutral exchange of chloride for bicarbonate ions across the cell membrane (PubMed:15184086, PubMed:34668226). Plays an important role in osteoclast differentiation and function (PubMed:34668226). Regulates bone resorption and calpain-dependent actin cytoskeleton organization in osteoclasts via anion exchange-dependent control of pH (By similarity). Essential for intracellular pH regulation in CD8(+) T-cells upon CD3 stimulation, modulating CD8(+) T-cell responses (By similarity).
Involvement in disease
Osteopetrosis, autosomal recessive 9
OPTB9
A form of osteopetrosis, a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB9 is characterized by increased bone density and bone fragility, as well as renal failure.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the anion exchanger (TC 2.A.31) family.
Tissue Specificity
Isoform A
Expressed in the liver, stomach, kidney, prostate, thyroid and rectum.
Isoform B1
Expressed in the liver and kidney.
Isoform B2
Expressed in the liver and kidney.
Cellular localization
- Isoform A
- Apical cell membrane
- Multi-pass membrane protein
- Basolateral cell membrane
- Multi-pass membrane protein
- Isoform B1
- Apical cell membrane
- Multi-pass membrane protein
- Basolateral cell membrane
- Multi-pass membrane protein
- Isoform B2
- Apical cell membrane
- Multi-pass membrane protein
- Basolateral cell membrane
- Multi-pass membrane protein
Alternative names
AE2, EPB3L1, HKB3, MPB3L, SLC4A2, Anion exchange protein 2, AE 2, Anion exchanger 2, Non-erythroid band 3-like protein, Solute carrier family 4 member 2, BND3L