SLC4A2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | SLC4A2 |
| Official Name | solute carrier family 4 member 2 [Source:HGNC Symbol;Acc:HGNC:11028] |
| Ensembl ID | ENSG00000164889 |
| Bio databases IDs | |
| Aliases | solute carrier family 4 member 2, anion exchanger 2 type a, anion exchanger 2 type b1, anion exchanger 2 type b2 |
| Synonyms | AE2, Aep2, B3RP, BND3L, Cl-/HCO-3 AE2, EPB3L1, HKB3, LOC100287222, LOC100290011, LOC100292821, NBND3, OPTB9, PUTATIVE ANION EXCHANGER isoform 2, solute carrier family 4 (anion exchanger), member 2, solute carrier family 4 member 2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SLC4A2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- HCO3- transporter family
- Band 3 cytoplasmic domain
- antiporter
- enzyme binding
- protein binding
- anion exchange protein
- chloride transporter
- inorganic anion exchanger
- bicarbonate transporter
- transporter
- anion transporter
Pathways
Biological processes and signaling networks where the SLC4A2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- starvation
- osteopetrosis
- autosomal recessive osteopetrosis type 9
- COVID-19
- primary biliary cirrhosis
- distal renal tubular acidosis
- hearing loss
- achlorhydria
- growth failure
- ataxia
role in cell
- expression in
- quantity
- proliferation
- function
- production in
- formation in
- activity
- development
- migration
- differentiation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cellular membrane
- granules
- apical membrane
- basolateral membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SLC4A2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- transmembrane transport
- spermatogenesis
- regulation of bone resorption
- negative regulation of CD8-positive, alpha-beta T cell differentiation
- anion transport
- amelogenesis
- osteoclast differentiation
- regulation of intracellular pH
- regulation of actin cytoskeleton organization
- digestive tract development
- positive regulation of enamel mineralization
- negative regulation of CD8-positive, alpha-beta T cell proliferation
- bicarbonate transport
Cellular Component
Where in the cell the gene product is active
- focal adhesion
- membrane
- basolateral plasma membrane
- apical plasma membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- transmembrane transporter activity
- anion transmembrane transporter activity
- inorganic anion exchanger activity
- enzyme binding