KCNJ2
KCNJ2 Gene Summary
Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Mutations in this gene have been associated with Andersen syndrome, which is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | KCNJ2 |
| Official Name | potassium inwardly rectifying channel subfamily J member 2 [Source:HGNC Symbol;Acc:HGNC:6263] |
| Ensembl ID | ENSG00000123700 |
| Bio databases IDs | |
| Aliases | potassium inwardly rectifying channel subfamily J member 2 |
| Synonyms | ATFB9,HHBIRK1,HHIRK1,IRK1,KIR2.1,LQT7,potassium inwardly rectifying channel subfamily J member 2,potassium inwardly-rectifying channel, subfamily J, member 2,SQT3 |
| Species | Human, Homo sapiens |
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 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- phosphatidylinositol 4,5-biphosphate binding domain
- transmembrane pore region
- inward rectifier potassium channel
- protein binding
- pore domain
- identical protein binding
- Inward rectifier potassium channel N-terminal
- ion channel
- voltage-gated potassium channel
- cytoplasmic pore region
- cytoplasmic domain
- Inward rectifier potassium channel C-terminal domain
- phosphatidylinositol-4,5-bisphosphate binding
- Inward rectifier potassium channel transmembrane domain
- transmembrane domain
- tail domain
- Pka phosphorylation site
- PDZ binding motif
Pathways
Biological processes and signaling networks where the KCNJ2 gene 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.
binds
- HMGB1
- YWHAZ
- CAV3
- DLG2
- KCNJ18
- SNTA1
- chloroquine
- DLG4
- TJP1
- KCNJ2
disease
- atrial fibrillation
- COVID-19
- diabetes mellitus
- non-insulin-dependent diabetes mellitus
- disorder of coronary artery
- congestive heart failure
- insulin resistance
- unstable angina
- angina pectoris
- coronary disease
regulated by
- HRAS
- leukotriene D4
- ethylene glycol tetraacetic acid
- PKA catalytic subunit
- lipopolysaccharide
- SOD1
- phosphatidylinositol 4,5-bisphosphate
- THRA
- CNOT6L
- TNF
regulates
- MTOR
- ARHGEF17
- SVIL
- TLN1
- RYR2
- PCNT
- rubidium
- MYH14
- PHACTR2
- MYO9B
role in cell
- proliferation
- growth
- hyperpolarization
- hyperpolarization in
- activity
- development
- firing
- silencing
- depolarization
- contraction
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
- membrane fraction
- glutaminergic synapse
- intracellular compartment
- cell surface
- Golgi region
- intracellular space
- cellular membrane
- intercellular junctions
- postsynaptic membrane
- dendritic spines
- intercalated disks
- transverse tubules
- perikaryon
- dendrites
- detergent-soluble fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the KCNJ2 gene, providing context for its role in the cell.
BIOLOGICAL PROCESS
Functions and activities the gene product is involved in
- regulation of cardiac muscle cell action potential involved in contraction
- membrane repolarization involved in regulation of cardiac muscle cell action potential
- regulation of skeletal muscle contraction via membrane action potential
- membrane repolarization involved in regulation of action potential
- membrane depolarization involved in regulation of cardiac muscle cell action potential
- potassium ion transmembrane transport
- magnesium ion transport
- regulation of resting membrane potential
- regulation of cardiac muscle cell contraction
- relaxation of skeletal muscle
- regulation of membrane repolarization
- potassium ion transport
- cellular potassium ion homeostasis
- cellular response to mechanical stimulus
- protein homotetramerization
- regulation of ion transmembrane transport
- regulation of heart rate by cardiac conduction
- relaxation of cardiac muscle
CELLULAR COMPONENT
Where in the cell the gene product is active
- T-tubule
- postsynaptic membrane
- voltage-gated potassium channel complex
- membrane
- dendritic spine
- intercalated disc
- neuronal cell body
- plasma membrane
MOLECULAR FUNCTION
What the gene product does at the molecular level
- phosphatidylinositol-4,5-bisphosphate binding
- identical protein binding
- protein binding
- inward rectifier potassium channel activity
- voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization