Kir6.2

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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: 3767
Genetically Related Diseases
Disease Name References
diabetes mellitus type 2
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
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 [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Kir6.2 is a major subunit of the ATP-sensitive K+ channel, an inward-rectifier potassium ion channel.[4] The gene encoding the channel is called KCNJ11 and mutations in this gene are associated with congenital hyperinsulinism.[5]

Structure[edit]

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[edit]

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).[4][6]


See also[edit]

References[edit]

  1. ^ "chibi.ubc.ca/Gemma/phenotypes.html?phenotypeUrlId=DOID_9352&geneId=81286". 
  2. ^ "Human PubMed Reference:". 
  3. ^ "Mouse PubMed Reference:". 
  4. ^ a b "Entrez Gene: KCNJ11 potassium inwardly-rectifying channel, subfamily J, member 11". 
  5. ^ 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. 
  6. ^ 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[edit]

External links[edit]

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