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K_ir2.1

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From Wikipedia, the free encyclopedia

Protein-coding gene in the species Homo sapiens

KCNJ2

Identifiers

Aliases

KCNJ2, ATFB9, HHBIRK1, HHIRK1, IRK1, KIR2.1, LQT7, SQT3, potassium voltage-gated channel subfamily J member 2, potassium inwardly rectifying channel subfamily J member 2

External IDs

OMIM:600681;MGI:104744;HomoloGene:20249;GeneCards:KCNJ2;OMA:KCNJ2 - orthologs

Gene location (Human)

Chr.	Chromosome 17 (human)^[1]

Band	17q24.3	Start	70,168,673bp^[1]
Band	17q24.3	End	70,180,044bp^[1]

Gene location (Mouse)

Chr.	Chromosome 11 (mouse)^[2]

Band	11 E2\|11 75.23 cM	Start	110,956,990bp^[2]
Band	11 E2\|11 75.23 cM	End	110,967,647bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

inferior ganglion of vagus nerve

Skeletal muscle tissue of rectus abdominis

dorsal motor nucleus of vagus nerve

Skeletal muscle tissue of biceps brachii

pons

myocardium of left ventricle

subthalamic nucleus

corpus callosum

superior vestibular nucleus

inferior olivary nucleus

Top expressed in

muscle of thigh

granulocyte

genital tubercle

superior frontal gyrus

primary visual cortex

temporal muscle

dentate gyrus of hippocampal formation granule cell

esophagus

upper arm

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization voltage-gated ion channel activity identical protein binding phosphatidylinositol-4,5-bisphosphate binding inward rectifier potassium channel activity G-protein activated inward rectifier potassium channel activity
Cellular component	integral component of membrane rough endoplasmic reticulum Golgi apparatus membrane intercalated disc T-tubule voltage-gated potassium channel complex plasma membrane dendritic spine integral component of plasma membrane smooth endoplasmic reticulum soma dendrite intrinsic component of membrane
Biological process	cardiac muscle cell action potential regulation of ion transmembrane transport magnesium ion transport cardiac muscle cell action potential involved in contraction ion transport cellular potassium ion homeostasis potassium ion transport regulation of cardiac muscle cell contraction cellular response to mechanical stimulus membrane repolarization during action potential potassium ion transmembrane transport positive regulation of potassium ion transmembrane transport regulation of skeletal muscle contraction via regulation of action potential regulation of resting membrane potential regulation of membrane repolarization relaxation of skeletal muscle regulation of heart rate by cardiac conduction membrane repolarization during cardiac muscle cell action potential protein homotetramerization relaxation of cardiac muscle membrane depolarization during cardiac muscle cell action potential potassium ion import across plasma membrane cardiac conduction
Sources:Amigo /QuickGO

Orthologs

Species

Human

Mouse

Entrez


3759


16518

Ensembl


ENSG00000123700


ENSMUSG00000041695

UniProt


P63252


P35561

RefSeq (mRNA)


NM_000891


NM_008425

RefSeq (protein)


NP_000882


NP_032451

Location (UCSC)

Chr 17: 70.17 – 70.18 Mb

Chr 11: 110.96 – 110.97 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

TheK_ir2.1inward-rectifier potassium channel is alipid-gated ion channel encoded by theKCNJ2 gene.^[5]^[6]^[7]^[8]

Clinical significance

[edit]

A defect in this gene is associated withAndersen-Tawil syndrome.^[9]

A mutation in the KCNJ2 gene has also been shown to causeshort QT syndrome.^[10]

In research

[edit]

In neurogenetics, Kir2.1 is used inDrosophila research to inhibit neurons, as overexpression of this channel willhyperpolarize cells.

In optogenetics, a trafficking sequence from Kir2.1 has been added tohalorhodopsin to improve its membrane localization. The resulting protein eNpHR3.0 is used inoptogenetic research to inhibit neurons with light.^[11]

Expression of Kir2.1 gene in humanHEK293 cells induce a transient outward current, creating a steadymembrane potential close to thereversal potential of potassium.^[12]

Interactions

[edit]

Kir2.1 has been shown tointeract with:

References

[edit]

^^a ^b ^cGRCh38: Ensembl release 89: ENSG00000123700 –Ensembl, May 2017
^^a ^b ^cGRCm38: Ensembl release 89: ENSMUSG00000041695 –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):620–628.doi:10.1016/j.bbalip.2015.01.011.PMC 4540326.PMID 25633344.
^Raab-Graham KF, Radeke CM, Vandenberg CA (December 1994). "Molecular cloning and expression of a human heart inward rectifier potassium channel".NeuroReport.5 (18):2501–2505.doi:10.1097/00001756-199412000-00024.PMID 7696590.
^Derst C, Karschin C, Wischmeyer E, Hirsch JR, Preisig-Müller R, Rajan S, et al. (March 2001). "Genetic and functional linkage of Kir5.1 and Kir2.1 channel subunits".FEBS Letters.491 (3):305–311.Bibcode:2001FEBSL.491..305D.doi:10.1016/S0014-5793(01)02202-5.PMID 11240146.S2CID 14452157.
^Kubo Y, Adelman JP, Clapham DE, Jan LY, Karschin A, Kurachi Y, et al. (December 2005). "International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels".Pharmacological Reviews.57 (4):509–526.doi:10.1124/pr.57.4.11.PMID 16382105.S2CID 11588492.
^Donaldson MR, Yoon G, Fu YH, Ptacek LJ (2004). "Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity".Annals of Medicine.36 (Suppl 1):92–97.doi:10.1080/17431380410032490.PMID 15176430.S2CID 7362563.
^Priori SG, Pandit SV, Rivolta I, Berenfeld O, Ronchetti E, Dhamoon A, et al. (April 2005)."A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene".Circulation Research.96 (7):800–807.doi:10.1161/01.RES.0000162101.76263.8c.PMID 15761194.
^Gradinaru V, Zhang F, Ramakrishnan C, Mattis J, Prakash R, Diester I, et al. (April 2010)."Molecular and cellular approaches for diversifying and extending optogenetics".Cell.141 (1):154–165.doi:10.1016/j.cell.2010.02.037.PMC 4160532.PMID 20303157.
^Zhang DY, Lau CP, Li GR (April 2009). "Human Kir2.1 channel carries a transient outward potassium current with inward rectification".Pflügers Archiv.457 (6):1275–1285.doi:10.1007/s00424-008-0608-0.PMID 19002489.S2CID 3120804.
^Nehring RB, Wischmeyer E, Döring F, Veh RW, Sheng M, Karschin A (January 2000)."Neuronal inwardly rectifying K(+) channels differentially couple to PDZ proteins of the PSD-95/SAP90 family".The Journal of Neuroscience.20 (1):156–162.doi:10.1523/JNEUROSCI.20-01-00156.2000.PMC 6774109.PMID 10627592.
^Kurschner C, Yuzaki M (September 1999)."Neuronal interleukin-16 (NIL-16): a dual function PDZ domain protein".The Journal of Neuroscience.19 (18):7770–7780.doi:10.1523/JNEUROSCI.19-18-07770.1999.PMC 6782450.PMID 10479680.
^Grishin A, Li H, Levitan ES, Zaks-Makhina E (October 2006)."Identification of gamma-aminobutyric acid receptor-interacting factor 1 (TRAK2) as a trafficking factor for the K+ channel Kir2.1".The Journal of Biological Chemistry.281 (40):30104–30111.doi:10.1074/jbc.M602439200.PMID 16895905.

External links

[edit]

GeneReviews/NCBI/NIH/UW entry on Andersen-Tawil syndrome
OMIM entries on Anderson-Tawil syndrome
KCNJ2+protein,+human at the U.S. National Library of MedicineMedical Subject Headings (MeSH)
Kir2.1+channel at the U.S. National Library of MedicineMedical Subject Headings (MeSH)

v t e PDB gallery
1u4f: Crystal Structure of Cytoplasmic Domains of IRK1 (Kir2.1) channel 2gix: Cytoplasmic Domain Structure of Kir2.1 containing Andersen's Mutation R218Q and Rescue Mutation T309K

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