Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: KCNJ6 (potassium inwardly rectifying channel subfamily J member 6) Homo sapiens
Analyze
Symbol: KCNJ6
Name: potassium inwardly rectifying channel subfamily J member 6
Description: 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 modulate many physiological processes, including heart rate in cardiac cells and circuit activity in neuronal cells, through G-protein coupled receptor stimulation. Mutations in this gene are associated with Keppen-Lubinsky Syndrome, a rare condition characterized by severe developmental delay, facial dysmorphism, and intellectual disability. [provided by RefSeq, Apr 2015]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BIR1; G protein-activated inward rectifier potassium channel 2; GIRK-2; GIRK2; hiGIRK2; inward rectifier K(+) channel Kir3.2; inward rectifier potassium channel KIR3.2; KATP-2; KATP2; KCNJ7; KIR3.2; KPLBS; MGC126596; potassium channel, inwardly rectifying subfamily J member 6; potassium channel, inwardly rectifying subfamily J, member 6; potassium inwardly-rectifying channel, subfamily J, member 6; potassium voltage-gated channel subfamily J member 6
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382137,607,373 - 37,916,457 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372138,996,778 - 39,288,741 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362137,918,655 - 38,210,566 (-)NCBINCBI36hg18NCBI36
Build 342137,918,656 - 38,210,566NCBI
Celera2124,194,896 - 24,487,265 (-)NCBI
Cytogenetic Map21q22.13NCBI
HuRef2124,470,127 - 24,761,921 (-)NCBIHuRef
CHM1_12138,557,669 - 38,850,112 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated
RGD Disease Portals

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on KCNJ6
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1313992
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2019-09-12
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.