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K_ir6.2

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From Wikipedia, the free encyclopedia

Protein-coding gene in the species Homo sapiens

KCNJ11

Identifiers

Aliases

KCNJ11, 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 IDs

OMIM:600937;MGI:107501;HomoloGene:441;GeneCards:KCNJ11;OMA:KCNJ11 - orthologs

Gene location (Human)

Chr.	Chromosome 11 (human)^[1]

Band	11p15.1	Start	17,365,172bp^[1]
Band	11p15.1	End	17,389,331bp^[1]

Gene location (Mouse)

Chr.	Chromosome 7 (mouse)^[2]

Band	7 B3\|7 29.66 cM	Start	45,743,377bp^[2]
Band	7 B3\|7 29.66 cM	End	45,750,188bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

gastrocnemius muscle

muscle of thigh

tibialis anterior muscle

right hemisphere of cerebellum

apex of heart

islet of Langerhans

right frontal lobe

prefrontal cortex

left ventricle

skeletal muscle tissue

Top expressed in

gastrula

muscle of thigh

medial ganglionic eminence

molar

calvaria

triceps brachii muscle

temporal muscle

ankle

intercostal muscle

major salivary gland

More reference expression data

BioGPS

n/a

Gene ontology
Molecular function	transmembrane transporter binding potassium ion binding voltage-gated ion channel activity ankyrin binding voltage-gated potassium channel activity ATP-activated inward rectifier potassium channel activity inward rectifier potassium channel activity ATP binding protein binding protein C-terminus binding heat shock protein binding
Cellular component	integral component of membrane cytosol endosome nuclear envelope membrane intracellular membrane-bounded organelle intercalated disc cell body fiber T-tubule myelin sheath plasma membrane integral component of plasma membrane soma endoplasmic reticulum mitochondrion axolemma inward rectifying potassium channel sarcolemma acrosomal vesicle
Biological process	positive regulation of cation channel activity response to ATP response to estradiol negative regulation of insulin secretion regulation of insulin secretion response to testosterone regulation of membrane potential cellular response to tumor necrosis factor regulation of ion transmembrane transport nervous system process cellular response to nicotine ion transport potassium ion transport response to ischemia potassium ion transmembrane transport glucose metabolic process cellular response to glucose stimulus positive regulation of protein localization to plasma membrane potassium ion import across plasma membrane transmembrane transport regulation of cardiac conduction
Sources:Amigo /QuickGO

Orthologs

Species

Human

Mouse

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 Mb

Chr 7: 45.74 – 45.75 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

K_ir6.2 is a major subunit of theATP-sensitive K⁺ channel, alipid-gated inward-rectifier potassium ion channel.^[5] Thegene encoding the channel is calledKCNJ11 and mutations in this gene are associated withcongenital hyperinsulinism.^[6]

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 byG-proteins and is found associated with thesulfonylurea receptor (SUR) to constitute the ATP-sensitive K⁺ channel.

Pathology

[edit]

Mutations in this gene are a cause ofcongenital hyperinsulinism (CHI), an autosomal recessive disorder characterized by unregulated insulin secretion.^[7] Defects in this gene may also contribute toautosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM).^[5]^[8]

References

[edit]

^^a ^b ^cGRCh38: Ensembl release 89: ENSG00000187486 –Ensembl, May 2017
^^a ^b ^cGRCm38: Ensembl release 89: ENSMUSG00000096146 –Ensembl, May 2017
^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^^a ^b"Entrez Gene: KCNJ11 potassium inwardly-rectifying channel, subfamily J, member 11".
^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.
^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.
^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.

External links

[edit]

GeneReviews/NCBI/NIH/UW entry on Familial Hyperinsulinism
GeneReviews/NCBI/NIH/UW entry on Permanent Neonatal Diabetes Mellitus
KCNJ11+protein,+human at the U.S. National Library of MedicineMedical Subject Headings (MeSH)
SUR1+protein,+human at the U.S. National Library of MedicineMedical Subject Headings (MeSH)

This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.

Membrane transport protein:ion channels (TC 1A)

Ca²⁺:Calcium channel

Ligand-gated	Inositol trisphosphate receptor 1 2 3 Ryanodine receptor 1 2 3
Voltage-gated	L-type/Ca_vα 1.1 1.2 1.3 1.4 N-type/Ca_vα2.2 P-type/Ca_vα 2.1 Q-type/Ca_vα2.1 R-type/Ca_vα2.3 T-type/Ca_vα 3.1 3.2 3.3 α₂δ-subunits 1 2 β-subunits β1 β2 β3 β4 γ-subunits γ1 γ2 γ3 γ4 Cation channels of sperm 1 2 3 4 Two-pore channel 1 2

Na⁺:Sodium channel

Constitutively active	Epithelial sodium channel α β γ δ
Proton-gated	Amiloride-sensitive cation channel 1 2 3 4
Voltage-gated	Na_vα 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 1.9 7A Na_vβ 1 2 3 4

K⁺:Potassium channel

Calcium-activated	BK channel α1 β1 β2 β3 β4 SK channel SK1 SK2 SK3 IK channel IK1 K_Ca 1.1 2.1 2.2 2.3 3.1 4.1 4.2 5.1
Inward-rectifier	K_ATP K_ir 1.1 2.1 2.2 2.3 2.4 2.6 GIRK/K_ir 3.1 3.2 3.3 3.4 K_ir 4.1 4.2 5.1 6.1 6.2 7.1
Tandem pore domain	K2P 1 2 3 4 5 6 7 9 10 12 13 15 16 17 18
Voltage-gated	K_vα1-6 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 2.1 2.2 3.1 3.2 3.3 3.4 4.1 4.2 4.3 5.1 6.1 6.2 6.3 6.4 K_vα7-12 7.1 7.2 7.3 7.4 7.5 8.1 8.2 9.1 9.2 9.3 10.1 10.2 11.1/hERG 11.2 11.3 12.1 12.2 12.3 K_vβ 1 2 3 KCNIP 1 2 3 4 minK/ISK minK/ISK-like MiRP 1 2 3 Shaker (gene)

Miscellaneous

Cl⁻:Chloride channel	Calcium-activated chloride channels Anoctamin ANO1 Bestrophin 1 2 Chloride Channel Accessory 1 2 3 4 CFTR CLCN 1 2 3 4 5 6 7 KA KB CLIC 1 2 3 4 5 6 L1 CLNS 1A 1B
H⁺:Proton channel	HVCN1
M⁺:CNG cation channel	α 1 2 3 4 β 1 2 3 HCN FC 1 2 3 4
M⁺:TRP cation channel	TRPA (1) TRPC 1 2 3 4 4AP 5 6 7 TRPM 1 2 3 4 5 6 7 8 TRPML 1 2 3 TRPN TRPP 1 2 TRPV 1 2 3 4 5 6
H₂O (+solutes):Porin	Aquaporin 0 1 2 3 4 5 6 7 8 9 Voltage-dependent anion channel 1 2 3 General bacterial porin family
Cytoplasm:Gap junction	Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin