SLC12A2 Gene Summary [Human]
The protein encoded by this gene mediates sodium and chloride transport and reabsorption. The encoded protein is a membrane protein and is important in maintaining proper ionic balance and cell volume. This protein is phosphorylated in response to DNA damage. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
Details
| Type | Protein Coding |
| Official Symbol | SLC12A2 |
| Official Name | solute carrier family 12 member 2 [Source:HGNC Symbol;Acc:HGNC:10911] |
| Ensembl ID | ENSG00000064651 |
| Bio databases IDs | |
| Aliases | solute carrier family 12 member 2, bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1, basolateral Na-K-Cl symporter, protein phosphatase 1, regulatory subunit 141 |
| Synonyms | 9330166H04Rik, BSC, BSC-2, CCC1, hNKCC1, KILQS, mBSC2, mNKCC1, Na-k-cl cotransporter, NKCC1, PPP1R141, solute carrier family 12 member 2, solute carrier family 12, member 2, sy-ns |
| 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 SLC12A2 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:chloride/potassium:chloride symporter
- Amino acid permease N-terminal
- protein kinase binding
- potassium ion transporter
- SPAK binding domain
- heat shock protein binding
- protein binding
- metal ion transporter
- ammonium transporter
- K-Cl cotransporter
- cation:chloride symporter
- amino acid permease
- transmembrane domain
- chaperone binding
- transporter
- Solute carrier family 12
Pathways
Biological processes and signaling networks where the SLC12A2 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
- liver disease
- neoplasia
- edema
- essential hypertension
- pain
- growth failure
- autosomal dominant deafness type 78
- heart failure
- hereditary disorder
- schizophrenia
role in cell
- expression in
- migration
- quantity
- proliferation
- response
- hyperpolarization
- depolarization
- depolarization in
- volume
- cell death
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
- cytoplasmic vesicle membrane
- cilia
- cell surface
- cell periphery
- apical compartment
- membrane surface
- cellular membrane
- apical membrane
- plasma membrane projections
- basolateral membrane
- basal membrane
- lateral plasma membrane
- neurites
- dendrite initial segments
- cellular protrusions
- membrane processes
- cell membrane leading edge
- perikaryon
- axons
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SLC12A2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- potassium ion homeostasis
- chloride ion homeostasis
- sodium ion homeostasis
- negative regulation of vascular wound healing
- cellular sodium ion homeostasis
- positive regulation of cell volume
- hyperosmotic response
- gamma-aminobutyric acid signaling pathway
- cell volume homeostasis
- cellular potassium ion homeostasis
- ion transport
- T cell chemotaxis
- ammonium transmembrane transport
- transepithelial chloride transport
- sodium ion transmembrane transport
- cellular chloride ion homeostasis
- transepithelial ammonium transport
- maintenance of blood-brain barrier
- cellular response to potassium ion
Cellular Component
Where in the cell the gene product is active
- lateral plasma membrane
- neuronal cell body
- neuron projection
- cell projection
- plasma membrane
- cytoplasmic vesicle membrane
- basal plasma membrane
- extracellular vesicular exosome
- cell body membrane
- membrane
- cell body
- cell projection membrane
- basolateral plasma membrane
- apical plasma membrane
- cell periphery
Molecular Function
What the gene product does at the molecular level
- ammonium transmembrane transporter activity
- protein kinase binding
- cation:chloride symporter activity
- potassium ion transmembrane transporter activity
- protein binding
- chaperone binding
- sodium:potassium:chloride symporter activity
- metal ion transmembrane transporter activity
- Hsp90 protein binding