KCNJ11
Identifiers
AliasesKCNJ11, BIR, HHF2, IKATP, KIR6.2, MODY13, PHHI, TNDM3, potassium voltage-gated channel subfamily J member 11, potassium inwardly rectifying channel subfamily J member 11, PNDM2
External IDsOMIM: 600937 MGI: 107501 HomoloGene: 441 GeneCards: KCNJ11
Orthologs
SpeciesHumanMouse
Entrez

3767

16514

Ensembl

ENSG00000187486

ENSMUSG00000096146

UniProt

Q14654

Q61743

RefSeq (mRNA)

NM_000525
NM_001166290
NM_001377296
NM_001377297

NM_001204411
NM_010602

RefSeq (protein)

NP_000516
NP_001159762
NP_001364225
NP_001364226

NP_001191340
NP_034732

Location (UCSC)Chr 11: 17.37 – 17.39 MbChr 7: 45.74 – 45.75 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Kir6.2 is a major subunit of the ATP-sensitive K+ channel, a lipid-gated 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 congenital hyperinsulinism (CHI), an autosomal recessive disorder characterized by unregulated insulin secretion.[7] Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM).[5][8]

See also

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000187486 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000096146 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 "Entrez Gene: KCNJ11 potassium inwardly-rectifying channel, subfamily J, member 11".
  6. Smith AJ, Taneja TK, Mankouri J, Sivaprasadarao A (August 2007). "Molecular cell biology of KATP channels: implications for neonatal diabetes". Expert Reviews in Molecular Medicine. 9 (21): 1–17. doi:10.1017/S1462399407000403. PMID 17666135. S2CID 24280714.
  7. Kapoor RR, Flanagan SE, Arya VB, Shield JP, Ellard S, Hussain K (April 2013). "Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism". European Journal of Endocrinology. 168 (4): 557–564. doi:10.1530/EJE-12-0673. PMC 3599069. PMID 23345197.
  8. Koo BK, Cho YM, Park BL, Cheong HS, Shin HD, Jang HC, et al. (February 2007). "Polymorphisms of KCNJ11 (Kir6.2 gene) are associated with Type 2 diabetes and hypertension in the Korean population". Diabetic Medicine. 24 (2): 178–186. doi:10.1111/j.1464-5491.2006.02050.x. PMID 17257281. S2CID 22127350.

Further reading

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

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