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KCNJ12

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From Wikipedia, the free encyclopedia

Protein-coding gene in the species Homo sapiens

KCNJ12

Identifiers

Aliases

KCNJ12, IRK-2, IRK2, KCNJN1, Kir2.2, Kir2.2v, hIRK, hIRK1, hkir2.2x, kcnj12x, potassium voltage-gated channel subfamily J member 12, potassium inwardly rectifying channel subfamily J member 12

External IDs

OMIM:602323;MGI:108495;HomoloGene:7793;GeneCards:KCNJ12;OMA:KCNJ12 - orthologs

Gene location (Human)

Chr.	Chromosome 17 (human)^[1]

Band	17p11.2	Start	21,376,357bp^[1]
Band	17p11.2	End	21,419,870bp^[1]

Gene location (Mouse)

Chr.	Chromosome 11 (mouse)^[2]

Band	11 B2\|11 37.96 cM	Start	60,913,390bp^[2]
Band	11 B2\|11 37.96 cM	End	60,961,957bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

Skeletal muscle tissue of rectus abdominis

cerebellar vermis

muscle of thigh

cerebellar hemisphere

right hemisphere of cerebellum

gastrocnemius muscle

quadriceps femoris muscle

vastus lateralis muscle

tibialis anterior muscle

Skeletal muscle tissue of biceps brachii

Top expressed in

muscle of thigh

cerebellar cortex

lumbar spinal ganglion

sternocleidomastoid muscle

lens

triceps brachii muscle

skeletal muscle tissue

knee joint

temporal muscle

quadriceps femoris muscle

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	inward rectifier potassium channel activity voltage-gated ion channel activity G-protein activated inward rectifier potassium channel activity protein binding
Cellular component	integral component of membrane intrinsic component of membrane plasma membrane integral component of plasma membrane membrane
Biological process	potassium ion transport regulation of ion transmembrane transport muscle contraction regulation of heart contraction protein homotetramerization ion transport potassium ion import across plasma membrane cardiac conduction
Sources:Amigo /QuickGO

Orthologs

Species

Human

Mouse

Entrez


3768


16515

Ensembl


ENSG00000184185


ENSMUSG00000042529

UniProt


Q14500


P52187

RefSeq (mRNA)


NM_021012


NM_001267593 NM_010603

RefSeq (protein)


NP_066292


NP_001254522 NP_034733

Location (UCSC)

Chr 17: 21.38 – 21.42 Mb

Chr 11: 60.91 – 60.96 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

ATP-sensitive inward rectifier potassium channel 12 is alipid-gated ion channel that in humans is encoded by theKCNJ12gene.^[5]^[6]^[7]^[8]^[9]

Function

[edit]

This gene encodes aninwardly rectifying K⁺ channel that may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels that contribute to the cardiac inward rectifier current (IK1). The gene is located within theSmith–Magenis syndrome region on chromosome 17.^[9]

Interactions

[edit]

KCNJ12 has been shown tointeract with:

References

[edit]

^^a ^b ^cGRCh38: Ensembl release 89: ENSG00000184185 –Ensembl, May 2017
^^a ^b ^cGRCm38: Ensembl release 89: ENSMUSG00000042529 –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.
^Hansen, SB (May 2015)."Lipid agonism: The PIP2 paradigm of ligand-gated ion channels".Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids.1851 (5):620–8.doi:10.1016/j.bbalip.2015.01.011.PMC 4540326.PMID 25633344.
^Wible BA, De Biasi M, Majumder K, Taglialatela M, Brown AM (Mar 1995). "Cloning and functional expression of an inwardly rectifying K+ channel from human atrium".Circulation Research.76 (3):343–50.doi:10.1161/01.res.76.3.343.PMID 7859381.
^Kaibara M, Ishihara K, Doi Y, Hayashi H, Ehara T, Taniyama K (Nov 2002)."Identification of human Kir2.2 (KCNJ12) gene encoding functional inward rectifier potassium channel in both mammalian cells and Xenopus oocytes".FEBS Letters.531 (2):250–4.Bibcode:2002FEBSL.531..250K.doi:10.1016/S0014-5793(02)03512-3.PMID 12417321.S2CID 46515689.
^Kubo Y, Adelman JP, Clapham DE, Jan LY, Karschin A, Kurachi Y, Lazdunski M, Nichols CG, Seino S, Vandenberg CA (Dec 2005). "International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels".Pharmacological Reviews.57 (4):509–26.doi:10.1124/pr.57.4.11.PMID 16382105.S2CID 11588492.
^^a ^b"Entrez Gene: KCNJ12 potassium inwardly-rectifying channel, subfamily J, member 12".
^^a ^b ^c ^d ^e ^f ^g ^h ⁱLeonoudakis D, Conti LR, Anderson S, Radeke CM, McGuire LM, Adams ME, Froehner SC, Yates JR, Vandenberg CA (May 2004)."Protein trafficking and anchoring complexes revealed by proteomic analysis of inward rectifier potassium channel (Kir2.x)-associated proteins".The Journal of Biological Chemistry.279 (21):22331–46.doi:10.1074/jbc.M400285200.PMID 15024025.
^^a ^b ^c ^d ^e ^f ^gLeonoudakis D, Conti LR, Radeke CM, McGuire LM, Vandenberg CA (Apr 2004)."A multiprotein trafficking complex composed of SAP97, CASK, Veli, and Mint1 is associated with inward rectifier Kir2 potassium channels".The Journal of Biological Chemistry.279 (18):19051–63.doi:10.1074/jbc.M400284200.PMID 14960569.
^Leonoudakis D, Mailliard W, Wingerd K, Clegg D, Vandenberg C (Mar 2001)."Inward rectifier potassium channel Kir2.2 is associated with synapse-associated protein SAP97".Journal of Cell Science.114 (Pt 5):987–98.doi:10.1242/jcs.114.5.987.PMID 11181181.

External links

[edit]

Kir2.2+channel 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