KCNJ10 Gene Summary [Human]
This gene encodes a member of the inward rectifier-type potassium channel family, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. The encoded protein may form a heterodimer with another potassium channel protein and may be responsible for the potassium buffering action of glial cells in the brain. Mutations in this gene have been associated with seizure susceptibility of common idiopathic generalized epilepsy syndromes. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | KCNJ10 |
| Official Name | potassium inwardly rectifying channel subfamily J member 10 [Source:HGNC Symbol;Acc:HGNC:6256] |
| Ensembl ID | ENSG00000177807 |
| Bio databases IDs | |
| Aliases | potassium inwardly rectifying channel subfamily J member 10 |
| Synonyms | BIR10, BIRK-1, BIRK-10, KCNJ13-PEN, KIR1.2, KIR4.1, potassium inwardly rectifying channel subfamily J member 10, potassium inwardly-rectifying channel, subfamily J, member 10, SESAME |
| 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 KCNJ10 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- potassium channel
- inward rectifier potassium channel
- cytoplasmic domain
- Inward rectifier potassium channel C-terminal domain
- Inward rectifier potassium channel transmembrane domain
- ATP-activated inward rectifier potassium channel
- protein binding
- receptor binding
- PDZ binding motif
- identical protein binding
- ion channel
Pathways
Biological processes and signaling networks where the KCNJ10 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
- breast cancer
- pain
- seizures
- seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance
- SeSAME-like syndrome
- growth failure
- autosomal recessive deafness type 4
- hereditary disorder
- motor dysfunction or movement disorder
- renal clear cell adenocarcinoma
role in cell
- expression in
- transmembrane potential
- function in
- quantity
- activity
- degeneration
- morphology
- calcium response in
- abnormal morphology
- hyperpolarization
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
- glial endfeet
- cellular membrane
- apical membrane
- basolateral membrane
- cellular protrusions
- microvilli
- perikaryon
- astrocyte projections
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KCNJ10 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- potassium ion transport
- adult walking behavior
- central nervous system myelination
- potassium ion homeostasis
- regulation of long-term neuronal synaptic plasticity
- regulation of resting membrane potential
- regulation of ion transmembrane transport
- glutamate uptake involved in synaptic transmission
- visual perception
- cellular response to potassium ion
Cellular Component
Where in the cell the gene product is active
- cell body
- ion channel complex
- basolateral plasma membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein binding
- inward rectifier potassium channel activity
- ATP-activated inward rectifier potassium channel activity