KCNJ5 potassium inwardly rectifying channel subfamily J member 5

Gene ID: 3762, updated on 14-Nov-2024
Gene type: protein coding
Also known as: CIR; GIRK4; KATP1; LQT13; KIR3.4

Summary

This gene encodes an integral membrane protein which belongs to one of seven subfamilies of inward-rectifier potassium channel proteins called potassium channel subfamily J. The encoded protein is a subunit of the potassium channel which is homotetrameric. It is controlled by G-proteins and has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Naturally occurring mutations in this gene are associated with aldosterone-producing adenomas. [provided by RefSeq, Aug 2017]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Familial hyperaldosteronism type III MedGen: C3838758OMIM: 613677GeneReviews: Not available	See labs
Long QT syndrome 13 MedGen: C3150733OMIM: 613485GeneReviews: Long QT Syndrome Overview	See labs

Genomic context

Location:: 11q24.3

Sequence:: Chromosome: 11; NC_000011.10 (128891356..128921163)

Total number of exons:: 5

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for KCNJ5 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
KCNJ5 database
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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