KCNJ12 Gene Summary [Human]
This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | KCNJ12 |
| Official Name | potassium inwardly rectifying channel subfamily J member 12 [Source:HGNC Symbol;Acc:HGNC:6258] |
| Ensembl ID | ENSG00000184185 |
| Bio databases IDs | |
| Aliases | potassium inwardly rectifying channel subfamily J member 12 |
| Synonyms | FLJ14167, hIRK, hIRK1, hkir2.2x, IRK-2, kcnj12x, KCNJN1, Kir2.1, Kir2.2, LOC100131509, LOC100653095, MB-IRK2, potassium channel, potassium inwardly rectifying channel subfamily J member 12, potassium inwardly-rectifying channel, subfamily J, member 12 |
| 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 KCNJ12 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- inward rectifier potassium channel
- cytoplasmic domain
- Inward rectifier potassium channel C-terminal domain
- Inward rectifier potassium channel transmembrane domain
- protein binding
- PDZ binding motif
- Inward rectifier potassium channel N-terminal
- ion channel
- PDZ-domain binding
Pathways
Biological processes and signaling networks where the KCNJ12 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
- neoplasia
- non-insulin-dependent diabetes mellitus
- atrial fibrillation
- congestive heart failure
- respiratory failure
- hypertension
- disorder of coronary artery
- ST-elevation myocardial infarction
- sepsis
- diabetes mellitus
role in cell
- expression in
- phosphorylation in
- activation in
- depolarization
- colony formation
- replication in
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
- cellular membrane
- basolateral membrane
- neuromuscular junctions
- transverse tubules
- perikaryon
- dendrites
- detergent-soluble fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KCNJ12 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- potassium ion transport
- protein homotetramerization
- muscle contraction
- regulation of heart contraction
- regulation of ion transmembrane transport
Cellular Component
Where in the cell the gene product is active
- membrane
- ion channel complex
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- inward rectifier potassium channel activity