Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3763
Gene name Gene Name - the full gene name approved by the HGNC.
Potassium inwardly rectifying channel subfamily J member 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KCNJ6
Synonyms (NCBI Gene) Gene synonyms aliases
BIR1, GIRK-2, GIRK2, KATP-2, KATP2, KCNJ7, KIR3.2, KPLBS, hiGIRK2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
KPLBS
Chromosome Chromosome number
21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q22.13
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005242 Function Inward rectifier potassium channel activity IBA 21873635
GO:0005515 Function Protein binding IPI 12297500, 32296183
GO:0005794 Component Golgi apparatus HDA 16780588
GO:0005886 Component Plasma membrane HDA 16780588
GO:0005886 Component Plasma membrane IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600877 6267 ENSG00000157542
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Mental retardation Severe intellectual disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Keppen-lubinsky syndrome KEPPEN-LUBINSKY SYNDROME, Keppen-Lubinsky syndrome rs786204794, rs786204795, rs1556023562 25620207
Lipodystrophy Familial generalized lipodystrophy rs553668, rs766817317
Microcephaly Microcephaly rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019
View all (280 more)
Unknown
Disease term Disease name Evidence References Source
Mental depression Mental Depression, Depressive disorder 22308328, 20943350 ClinVar
Spastic tetraparesis Spastic tetraparesis ClinVar
Metabolic Syndrome Metabolic Syndrome GWAS
Gout Gout GWAS
Associations from Text Mining
Disease Name Relationship Type References
Alcoholism Associate 21307845
Bipolar Disorder Associate 19567891
Breast Neoplasms Associate 15603589
Channelopathies Associate 29852244
Chronic Pain Associate 36261449
Cicatrix Hypertrophic Associate 30320389
Cognition Disorders Associate 36071510
Congenital Abnormalities Associate 36071510
Cystitis Interstitial Associate 30973927
Developmental Disabilities Associate 29852244