Kir6.2

KCNJ11
Identifiers
Aliases KCNJ11, BIR, HHF2, IKATP, KIR6.2, MODY13, PHHI, TNDM3, potassium voltage-gated channel subfamily J member 11
External IDs OMIM: 600937 MGI: 107501 HomoloGene: 441 GeneCards: KCNJ11
Genetically Related Diseases
type 2 diabetes mellitus[1]
Targeted by Drug
minoxidil, nicorandil, glyburide, tolbutamide[2]
Orthologs
Species Human Mouse
Entrez

3767

16514

Ensembl

ENSG00000187486

ENSMUSG00000096146

UniProt

Q14654

Q61743

RefSeq (mRNA)

NM_000525
NM_001166290

NM_001204411
NM_010602

RefSeq (protein)

NP_001159762.1

NP_034732.1

Location (UCSC) Chr 11: 17.39 – 17.39 Mb Chr 7: 46.1 – 46.1 Mb
PubMed search [3] [4]
Wikidata
View/Edit HumanView/Edit Mouse

Kir6.2 is a major subunit of the ATP-sensitive K+ channel, an inward-rectifier potassium ion channel.[5] The gene encoding the channel is called KCNJ11 and mutations in this gene are associated with congenital hyperinsulinism.[6]

Structure

It is an integral membrane protein. The protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor (SUR) to constitute the ATP-sensitive K+ channel.

Pathology

Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM).[5][7]

See also

References

  1. "Diseases that are genetically associated with KCNJ11 view/edit references on wikidata".
  2. "Drugs that physically interact with ATP-sensitive inward rectifier potassium channel 11 view/edit references on wikidata".
  3. "Human PubMed Reference:".
  4. "Mouse PubMed Reference:".
  5. 1 2 "Entrez Gene: KCNJ11 potassium inwardly-rectifying channel, subfamily J, member 11".
  6. Smith AJ, Taneja TK, Mankouri J, Sivaprasadarao A (2007). "Molecular cell biology of KATP channels: implications for neonatal diabetes". Expert Rev Mol Med. 9 (21): 1–17. doi:10.1017/S1462399407000403. PMID 17666135.
  7. Koo BK, Cho YM, Park BL, Cheong HS, Shin HD, Jang HC, Kim SY, Lee HK, Park KS (2007). "Polymorphisms of KCNJ11 (Kir6.2 gene) are associated with Type 2 diabetes and hypertension in the Korean population". Diabet. Med. 24 (2): 178–86. doi:10.1111/j.1464-5491.2006.02050.x. PMID 17257281.

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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