SLC12A4 Gene Summary [Human]
This gene encodes a member of the SLC12A transporter family. The encoded protein mediates the coupled movement of potassium and chloride ions across the plasma membrane. This gene is expressed ubiquitously. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2013]
Details
| Type | Protein Coding |
| Official Symbol | SLC12A4 |
| Official Name | solute carrier family 12 member 4 [Source:HGNC Symbol;Acc:HGNC:10913] |
| Ensembl ID | ENSG00000124067 |
| Bio databases IDs | |
| Aliases | solute carrier family 12 member 4 |
| Synonyms | CTC-479C5.17, hKCC1, KCC1, RBCKCC1, solute carrier family 12 member 4, solute carrier family 12, 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 SLC12A4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein kinase binding
- amino acid permease
- ATP binding
- protein binding
- potassium:chloride symporter
- transporter
- Solute carrier family 12
- K-Cl cotransporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- pervasive developmental disorder
- sickle cell anemia
- edema
- heart failure
- hypochromic microcytic anemia
- autism
- congestive heart failure
- nephrosis
- bipolar disorder
- liver disease
role in cell
- growth
- proliferation
- density
- invasiveness
- volume
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
- cellular membrane
- GLUT4 vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SLC12A4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- ion transport
- potassium ion transmembrane transport
- chloride ion homeostasis
- potassium ion homeostasis
- synaptic transmission
- cell volume homeostasis
Cellular Component
Where in the cell the gene product is active
- membrane
- synapse
- plasma membrane
- lysosomal membrane
Molecular Function
What the gene product does at the molecular level
- ammonium transmembrane transporter activity
- potassium:chloride symporter activity
- ATP binding
- protein kinase binding
- protein binding