Gene Gene information from NCBI Gene database.
Entrez ID 3761
Gene name Potassium inwardly rectifying channel subfamily J member 4
Gene symbol KCNJ4
Synonyms (NCBI Gene)
HIRHIRK2HRK1IRK-3IRK3Kir2.3
Chromosome 22
Chromosome location 22q13.1
Summary Several different potassium channels are known to be involved with electrical signaling in the nervous system. One class is activated by depolarization whereas a second class is not. The latter are referred to as inwardly rectifying K+ channels, and they
miRNA miRNA information provided by mirtarbase database.
107
miRTarBase ID miRNA Experiments Reference
MIRT504606 hsa-miR-6771-3p PAR-CLIP 20371350
MIRT504605 hsa-miR-1224-3p PAR-CLIP 20371350
MIRT504604 hsa-miR-3667-3p PAR-CLIP 20371350
MIRT504603 hsa-miR-493-3p PAR-CLIP 20371350
MIRT504602 hsa-miR-4691-5p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0005242 Function Inward rectifier potassium channel activity IBA
GO:0005242 Function Inward rectifier potassium channel activity IDA 8016146, 8034048, 8051145
GO:0005242 Function Inward rectifier potassium channel activity IEA
GO:0005242 Function Inward rectifier potassium channel activity IMP 7576658
GO:0005242 Function Inward rectifier potassium channel activity TAS 8016146
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600504 6265 ENSG00000168135
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P48050
Protein name Inward rectifier potassium channel 4 (HIRK2) (HRK1) (Hippocampal inward rectifier) (HIR) (Inward rectifier K(+) channel Kir2.3) (IRK-3) (Potassium channel, inwardly rectifying subfamily J member 4)
Protein function Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potass
PDB 3GJ9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01007 IRK 22 178 Inward rectifier potassium channel transmembrane domain Domain
PF17655 IRK_C 185 358 Inward rectifier potassium channel C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Heart, skeletal muscle, and several different brain regions including the hippocampus.
Sequence
Sequence length 445
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cholinergic synapse
Oxytocin signaling pathway
  Activation of G protein gated Potassium channels
Classical Kir channels
Phase 4 - resting membrane potential
Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CONOTRUNCAL HEART MALFORMATIONS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Prostate cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 30512237
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma CTD_human_DG 30512237
★☆☆☆☆
Found in Text Mining only
Alopecia totalis Alopecia BEFREE 11886538
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial fibrillation Pubtator 20657029 Associate
★☆☆☆☆
Found in Text Mining only
Conotruncal cardiac defects Conotruncal cardiac defect Pubtator 24800985 Associate
★☆☆☆☆
Found in Text Mining only
Conotruncal defect Conotruncal defect GWASDB_DG 24800985
★☆☆☆☆
Found in Text Mining only
CONOTRUNCAL HEART MALFORMATIONS (disorder) Conotruncal heart defect GWASCAT_DG 24800985
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 1711209, 1764093, 7681983, 7821730, 8359580
★☆☆☆☆
Found in Text Mining only
Heart Diseases Heart disease Pubtator 24427266 Associate
★☆☆☆☆
Found in Text Mining only
Insulin Resistance Diabetes mellitus, type 2 Pubtator 10819237, 17563366 Associate
★☆☆☆☆
Found in Text Mining only