SLC4A4 Gene Summary [Human]
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. [provided by RefSeq, Oct 2008]
Details
| Type | Protein Coding |
| Official Symbol | SLC4A4 |
| Official Name | solute carrier family 4 member 4 [Source:HGNC Symbol;Acc:HGNC:11030] |
| Ensembl ID | ENSG00000080493 |
| Bio databases IDs | |
| Aliases | solute carrier family 4 member 4 |
| Synonyms | AI835705, HHNMC, HNBC1, KNBC, LOC108352724, NBC, NBC1, NBC2, Nbc4, NBCE1, PNBC, pNbc1, PRTAO, SLC4A5, solute carrier family 4 (anion exchanger), member 4, solute carrier family 4 member 4 |
| 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 SLC4A4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- sodium:bicarbonate symporter
- HCO3- transporter family
- Band 3 cytoplasmic domain
- protein binding
- anion exchange protein
- identical protein binding
- symporter
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- epithelial cancer
- proximal renal tubular acidosis with ocular abnormalities
- metastasis
- dental enamel hypoplasia
- idiopathic scoliosis
- hepatocellular carcinoma
- liver cancer
- growth failure
- acidosis
role in cell
- abnormal morphology
- number
- cellular infiltration by
- glycolysis in
- accumulation in
- transmembrane potential
- pH
- calcium response in
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
- cell surface
- intracellular space
- cellular membrane
- cytosol
- basolateral membrane
- apical processes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SLC4A4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- inorganic anion transport
- sodium ion transport
- regulation of intracellular pH
- transmembrane transport
- regulation of membrane potential
- sodium ion transmembrane transport
- bicarbonate transport
- positive regulation of glycolysis
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- membrane
- basolateral plasma membrane
- plasma membrane
- cell surface
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- anion transmembrane transporter activity
- sodium:bicarbonate symporter activity
- symporter activity
- inorganic anion exchanger activity