SLC12A6 Gene Summary [Human]
This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activated by cell swelling induced by hypotonic conditions. Alternate splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | SLC12A6 |
| Official Name | solute carrier family 12 member 6 [Source:HGNC Symbol;Acc:HGNC:10914] |
| Ensembl ID | ENSG00000140199 |
| Bio databases IDs | |
| Aliases | solute carrier family 12 member 6 |
| Synonyms | 9530023I19RIK, ACCPN, CMT2II, gaxp, KCC3, KCC3A, KCC3B, LOC366154, LOC687625, solute carrier family 12 member 6, solute carrier family 12, member 6 |
| 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 SLC12A6 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
- potassium ion transporter
- amino acid permease
- protein binding
- potassium:chloride symporter
- ammonium transporter
- 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
- hypertension
- infertility condition
- Andermann syndrome
- hereditary disorder
- cervical carcinoma
- epithelial uterine cancer
- cervical cancer
- Charcot-Marie-Tooth disease axonal type 2II
- neuropathy
- sickle cell anemia
role in cell
- proliferation
- elongation
- volume
- density
- abnormal morphology
- invasion
- regulatory volume decrease
- response by
- cell-cell adhesion
- degeneration
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 periphery
- cellular membrane
- basolateral membrane
- myelin sheath
- perikaryon
- axons
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SLC12A6 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
- cellular response to glucose stimulus
- angiogenesis
- synaptic transmission
- cellular hypotonic salinity response
- cell volume homeostasis
Cellular Component
Where in the cell the gene product is active
- membrane
- synapse
- basolateral plasma membrane
- axon
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- potassium:chloride symporter activity
- ammonium transmembrane transporter activity
- protein kinase binding
- metal ion binding