Gene Gene information from NCBI Gene database.
Entrez ID 3763
Gene name Potassium inwardly rectifying channel subfamily J member 6
Gene symbol KCNJ6
Synonyms (NCBI Gene)
BIR1GIRK-2GIRK2KATP-2KATP2KCNJ7KIR3.2KPLBShiGIRK2
Chromosome 21
Chromosome location 21q22.13
Summary This gene encodes a member of the G protein-coupled inwardly-rectifying potassium channel family of inward rectifier potassium channels. This type of potassium channel allows a greater flow of potassium into the cell than out of it. These proteins modulat
miRNA miRNA information provided by mirtarbase database.
428
miRTarBase ID miRNA Experiments Reference
MIRT019353 hsa-miR-148b-3p Microarray 17612493
MIRT021940 hsa-miR-128-3p Microarray 17612493
MIRT712455 hsa-miR-5196-3p HITS-CLIP 19536157
MIRT712454 hsa-miR-8088 HITS-CLIP 19536157
MIRT712453 hsa-miR-885-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0005242 Function Inward rectifier potassium channel activity IBA
GO:0005242 Function Inward rectifier potassium channel activity IDA 10659995
GO:0005242 Function Inward rectifier potassium channel activity IEA
GO:0005242 Function Inward rectifier potassium channel activity TAS 7796919
GO:0005515 Function Protein binding IPI 12297500, 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600877 6267 ENSG00000157542
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P48051
Protein name G protein-activated inward rectifier potassium channel 2 (GIRK-2) (BIR1) (Inward rectifier K(+) channel Kir3.2) (KATP-2) (Potassium channel, inwardly rectifying subfamily J member 6)
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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01007 IRK 57 196 Inward rectifier potassium channel transmembrane domain Domain
PF17655 IRK_C 203 375 Inward rectifier potassium channel C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Most abundant in cerebellum, and to a lesser degree in islets and exocrine pancreas. {ECO:0000269|PubMed:7592809}.
Sequence
Sequence length 423
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Circadian entrainment
Retrograde endocannabinoid signaling
Cholinergic synapse
Serotonergic synapse
GABAergic synapse
Dopaminergic synapse
Estrogen signaling pathway
Oxytocin signaling pathway
GnRH secretion
Morphine addiction
  Activation of G protein gated Potassium channels
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.).
23
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Keppen-Lubinsky syndrome Pathogenic; Likely pathogenic rs786204794, rs786204795, rs1556023562 RCV000169688
RCV000169689
RCV000655946
★★★★☆
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
APPENDICITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
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
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder BEFREE 31099984
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ballismus Ballismus BEFREE 29852244
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar disorder Pubtator 19567891 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 15603589 Associate
★☆☆☆☆
Found in Text Mining only
Byzanthine arch palate High palate HPO_DG
★☆☆☆☆
Found in Text Mining only
Cardiovascular Abnormalities Cardiovascular Abnormalities BEFREE 24362460
★☆☆☆☆
Found in Text Mining only
Chronic Pain Chronic pain Pubtator 36261449 Associate
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Cognitive disorder BEFREE 28342823
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Cognition disorder Pubtator 36071510 Associate
★☆☆☆☆
Found in Text Mining only
Congenital Abnormalities Congenital abnormalities Pubtator 36071510 Associate
★☆☆☆☆
Found in Text Mining only