Gene Gene information from NCBI Gene database.
Entrez ID 3768
Gene name Potassium inwardly rectifying channel subfamily J member 12
Gene symbol KCNJ12
Synonyms (NCBI Gene)
IRK-2IRK2KCNJN1Kir2.2hIRKhIRK1hkir2.2xkcnj12x
Chromosome 17
Chromosome location 17p11.2
Summary 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 wi
miRNA miRNA information provided by mirtarbase database.
468
miRTarBase ID miRNA Experiments Reference
MIRT541189 hsa-miR-8485 HITS-CLIP 21572407
MIRT541189 hsa-miR-8485 HITS-CLIP 23313552
MIRT612843 hsa-miR-329-3p HITS-CLIP 23313552
MIRT612842 hsa-miR-362-3p HITS-CLIP 23313552
MIRT612841 hsa-miR-603 HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0005242 Function Inward rectifier potassium channel activity IBA
GO:0005242 Function Inward rectifier potassium channel activity IDA 20921230
GO:0005242 Function Inward rectifier potassium channel activity IEA
GO:0005515 Function Protein binding IPI 24550280, 30126976, 32296183
GO:0005886 Component Plasma membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602323 6258 ENSG00000184185
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14500
Protein name ATP-sensitive inward rectifier potassium channel 12 (Inward rectifier K(+) channel Kir2.2) (IRK-2) (Inward rectifier K(+) channel Kir2.2v) (Potassium channel, inwardly rectifying subfamily J member 12)
Protein function Inward rectifying potassium channel that probably participates in controlling the resting membrane potential in electrically excitable cells. Probably participates in establishing action potential waveform and excitability of neuronal and muscle
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08466 IRK_N 2 46 Inward rectifier potassium channel N-terminal Family
PF01007 IRK 47 187 Inward rectifier potassium channel transmembrane domain Domain
PF17655 IRK_C 194 367 Inward rectifier potassium channel C-terminal domain Domain
Sequence
Sequence length 433
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.).
6
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
HYPERTENSION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
KCNJ12-related disorder Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LYMPHATIC METASTASIS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Bicuspid Aortic Valve Disease Associate 36071494
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Associate 32188867, 37694353
★☆☆☆☆
Found in Text Mining only
Carcinoma Non Small Cell Lung Associate 34518802, 37694353
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy Dilated Associate 28816949
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 33892797
★☆☆☆☆
Found in Text Mining only
Endometrial Neoplasms Associate 36581816
★☆☆☆☆
Found in Text Mining only
familial dilated cardiomyopathy Associate 28816949
★☆☆☆☆
Found in Text Mining only
Leukemia Myelogenous Chronic BCR ABL Positive Associate 29983511
★☆☆☆☆
Found in Text Mining only
Mucocutaneous Lymph Node Syndrome Associate 38259468
★☆☆☆☆
Found in Text Mining only
Paralyses Familial Periodic Associate 30838349
★☆☆☆☆
Found in Text Mining only