Slc12a6 Gene Summary [Mouse]
Enables potassium:chloride symporter activity and protein kinase binding activity. Involved in cellular response to glucose stimulus; chloride ion homeostasis; and potassium ion homeostasis. Located in axon and basolateral plasma membrane. Is expressed in nervous system and sensory organ. Used to study agenesis of the corpus callosum with peripheral neuropathy and motor peripheral neuropathy. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease and agenesis of the corpus callosum with peripheral neuropathy. Orthologous to human SLC12A6 (solute carrier family 12 member 6). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Slc12a6 |
| Official Name | solute carrier family 12, member 6 [Source:MGI Symbol;Acc:MGI:2135960] |
| Ensembl ID | ENSMUSG00000027130 |
| 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 | Mouse, Mus musculus |
| 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 mouse 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 mouse 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