KCNJ5 Gene Summary [Human]
This gene encodes an integral membrane protein which belongs to one of seven subfamilies of inward-rectifier potassium channel proteins called potassium channel subfamily J. The encoded protein is a subunit of the potassium channel which is homotetrameric. It is controlled by G-proteins and has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Naturally occurring mutations in this gene are associated with aldosterone-producing adenomas. [provided by RefSeq, Aug 2017]
Details
| Type | Protein Coding |
| Official Symbol | KCNJ5 |
| Official Name | potassium inwardly rectifying channel subfamily J member 5 [Source:HGNC Symbol;Acc:HGNC:6266] |
| Ensembl ID | ENSG00000120457 |
| Bio databases IDs | |
| Aliases | potassium inwardly rectifying channel subfamily J member 5, G protein-activated inward rectifier potassium channel 4 |
| Synonyms | CIR, GIRK4, KATP-1, KIR3.4, LQT13, potassium inwardly rectifying channel subfamily J member 5, potassium inwardly-rectifying channel, subfamily J, member 5 |
| 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 KCNJ5 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
- voltage-gated potassium channel
- G-protein activated inward rectifier potassium channel
- Inward rectifier potassium channel C-terminal domain
- Inward rectifier potassium channel transmembrane domain
- protein binding
- ion channel
Pathways
Biological processes and signaling networks where the KCNJ5 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
- heart failure
- non-insulin-dependent diabetes mellitus
- hypertension
- chronic obstructive pulmonary disease
- cardiovascular disorder
- atrial fibrillation
- arrhythmia
- ventricular tachycardia
- ventricular arrhythmia
- heart disease
role in cell
- expression in
- production in
- proliferation
- polarization
- depolarization
- polarization in
- depolarization 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
- cell surface
- cellular membrane
- vesicles
- plasma membrane extracellular face
- secretory vesicles
- transverse tubules
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KCNJ5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- potassium ion transport
- potassium ion transmembrane transport
- regulation of ion transmembrane transport
- regulation of heart rate by cardiac conduction
Cellular Component
Where in the cell the gene product is active
- voltage-gated potassium channel complex
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- G-protein activated inward rectifier potassium channel activity
- voltage-gated potassium channel activity involved in atrial cardiomyocyte action potential repolarization
- protein binding
- inward rectifier potassium channel activity