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Protein

ATP-sensitive inward rectifier potassium channel 12

Gene

KCNJ12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Inward rectifying potassium channel that is activated by phosphatidylinositol 4,5-bisphosphate and that probably participates in controlling the resting membrane potential in electrically excitable cells. Probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium.4 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei173Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesiumBy similarity1

GO - Molecular functioni

GO - Biological processi

  • muscle contraction Source: ProtInc
  • potassium ion import Source: GO_Central
  • potassium ion transport Source: UniProtKB
  • protein homotetramerization Source: UniProtKB
  • regulation of heart contraction Source: ProtInc
  • regulation of ion transmembrane transport Source: UniProtKB-KW

Keywordsi

Molecular functionIon channel, Voltage-gated channel
Biological processIon transport, Potassium transport, Transport
LigandPotassium

Enzyme and pathway databases

ReactomeiR-HSA-1296041 Activation of G protein gated Potassium channels
R-HSA-1296053 Classical Kir channels
R-HSA-5576886 Phase 4 - resting membrane potential
R-HSA-997272 Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits
SIGNORiQ14500

Protein family/group databases

TCDBi1.A.2.1.9 the inward rectifier k(+) channel (irk-c) family

Names & Taxonomyi

Protein namesi
Recommended name:
ATP-sensitive inward rectifier potassium channel 12
Alternative name(s):
Inward rectifier K(+) channel Kir2.2
Short name:
IRK-2
Inward rectifier K(+) channel Kir2.2v
Potassium channel, inwardly rectifying subfamily J member 12
Gene namesi
Name:KCNJ12
Synonyms:IRK2, KCNJN1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000184185.9
HGNCiHGNC:6258 KCNJ12
MIMi602323 gene
neXtProtiNX_Q14500

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 82CytoplasmicBy similarityAdd BLAST82
Transmembranei83 – 107Helical; Name=M1By similarityAdd BLAST25
Topological domaini108 – 123ExtracellularBy similarityAdd BLAST16
Intramembranei124 – 128By similarity5
Intramembranei129 – 141Helical; Pore-forming; Name=H5By similarityAdd BLAST13
Intramembranei142 – 151Pore-formingBy similarity10
Topological domaini152 – 156ExtracellularBy similarity5
Transmembranei157 – 181Helical; Name=M2By similarityAdd BLAST25
Topological domaini182 – 433CytoplasmicBy similarityAdd BLAST252

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi3768
OpenTargetsiENSG00000184185
PharmGKBiPA218

Chemistry databases

DrugBankiDB00204 Dofetilide
DB01392 Yohimbine
GuidetoPHARMACOLOGYi431

Polymorphism and mutation databases

BioMutaiKCNJ12
DMDMi77416868

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001549621 – 433ATP-sensitive inward rectifier potassium channel 12Add BLAST433

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei75S-nitrosocysteineBy similarity1
Disulfide bondi155InterchainBy similarity

Keywords - PTMi

Disulfide bond, S-nitrosylation

Proteomic databases

PaxDbiQ14500
PeptideAtlasiQ14500
PRIDEiQ14500
ProteomicsDBi60008

PTM databases

iPTMnetiQ14500
PhosphoSitePlusiQ14500

Expressioni

Gene expression databases

BgeeiENSG00000184185
GenevisibleiQ14500 HS

Organism-specific databases

HPAiHPA027021

Interactioni

Subunit structurei

Association, via its PDZ-recognition domain, with LIN7A, LIN7B, LIN7C, DLG1, CASK and APBA1 plays a key role in its localization and trafficking (By similarity). Homotetramer. Forms heteromer with KCNJ4.By similarity1 Publication

Protein-protein interaction databases

BioGridi109970, 16 interactors
IntActiQ14500, 2 interactors
MINTiQ14500
STRINGi9606.ENSP00000328150

Structurei

3D structure databases

ProteinModelPortaliQ14500
SMRiQ14500
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi79 – 81Interaction with phosphatidylinositidesBy similarity3
Motifi143 – 148Selectivity filterBy similarity6
Motifi183 – 190Interaction with phosphatidylinositidesBy similarity8
Motifi431 – 433PDZ-bindingSequence analysis3

Domaini

Phosphatidylinositol 4,5-bisphosphate binding to the cytoplasmic side of the channel triggers a conformation change leading to channel opening.By similarity

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3827 Eukaryota
ENOG410XQ62 LUCA
GeneTreeiENSGT00760000118842
HOGENOMiHOG000237325
HOVERGENiHBG006178
InParanoidiQ14500
KOiK05005
OMAiTPCVLQV
OrthoDBiEOG091G08HC
PhylomeDBiQ14500
TreeFamiTF313676

Family and domain databases

Gene3Di2.60.40.1400, 2 hits
InterProiView protein in InterPro
IPR014756 Ig_E-set
IPR016449 K_chnl_inward-rec_Kir
IPR003272 K_chnl_inward-rec_Kir2.2
IPR013518 K_chnl_inward-rec_Kir_cyto
IPR013673 K_chnl_inward-rec_Kir_N
PANTHERiPTHR11767 PTHR11767, 1 hit
PTHR11767:SF14 PTHR11767:SF14, 1 hit
PfamiView protein in Pfam
PF01007 IRK, 1 hit
PF08466 IRK_N, 1 hit
PRINTSiPR01325 KIR22CHANNEL
PR01320 KIRCHANNEL
SUPFAMiSSF81296 SSF81296, 1 hit

Sequencei

Sequence statusi: Complete.

Q14500-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MTAASRANPY SIVSSEEDGL HLVTMSGANG FGNGKVHTRR RCRNRFVKKN
60 70 80 90 100
GQCNIEFANM DEKSQRYLAD MFTTCVDIRW RYMLLIFSLA FLASWLLFGI
110 120 130 140 150
IFWVIAVAHG DLEPAEGRGR TPCVMQVHGF MAAFLFSIET QTTIGYGLRC
160 170 180 190 200
VTEECPVAVF MVVAQSIVGC IIDSFMIGAI MAKMARPKKR AQTLLFSHNA
210 220 230 240 250
VVALRDGKLC LMWRVGNLRK SHIVEAHVRA QLIKPRVTEE GEYIPLDQID
260 270 280 290 300
IDVGFDKGLD RIFLVSPITI LHEIDEASPL FGISRQDLET DDFEIVVILE
310 320 330 340 350
GMVEATAMTT QARSSYLANE ILWGHRFEPV LFEEKNQYKI DYSHFHKTYE
360 370 380 390 400
VPSTPRCSAK DLVENKFLLP SANSFCYENE LAFLSRDEED EADGDQDGRS
410 420 430
RDGLSPQARH DFDRLQAGGG VLEQRPYRRE SEI
Length:433
Mass (Da):49,001
Last modified:October 11, 2005 - v2
Checksum:i082027A1765B6F4E
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti43R → H in AAC50615 (PubMed:8647284).Curated1
Sequence conflicti71M → I in AAC50615 (PubMed:8647284).Curated1
Sequence conflicti139E → K in AAC50615 (PubMed:8647284).Curated1
Sequence conflicti142T → N in AAC50615 (PubMed:8647284).Curated1
Sequence conflicti145G → S in AAC50615 (PubMed:8647284).Curated1
Sequence conflicti173D → N in AAC50615 (PubMed:8647284).Curated1
Sequence conflicti184M → V in AAC01951 (PubMed:9430667).Curated1
Sequence conflicti185A → V in AAC50615 (PubMed:8647284).Curated1
Sequence conflicti211L → F in AAC50615 (PubMed:8647284).Curated1
Sequence conflicti239E → K in AAC50615 (PubMed:8647284).Curated1
Sequence conflicti261 – 262RI → HS in AAC50615 (PubMed:8647284).Curated2
Sequence conflicti285Missing in AAA65122 (PubMed:7859381).Curated1
Sequence conflicti289 – 290ET → QM in AAC50615 (PubMed:8647284).Curated2
Sequence conflicti297V → I in AAC50615 (PubMed:8647284).Curated1
Sequence conflicti302M → I in AAC50615 (PubMed:8647284).Curated1
Sequence conflicti334Missing in AAC50615 (PubMed:8647284).Curated1
Sequence conflicti335Missing in AAC01951 (PubMed:9430667).Curated1
Sequence conflicti343S → L in AAC50615 (PubMed:8647284).Curated1
Sequence conflicti371S → R in AAC50615 (PubMed:8647284).Curated1
Sequence conflicti378E → K in AAC50615 (PubMed:8647284).Curated1
Sequence conflicti402D → E in AAC50615 (PubMed:8647284).Curated1
Sequence conflicti405S → I in AAC50615 (PubMed:8647284).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0245096R → Q. Corresponds to variant dbSNP:rs3752032Ensembl.1
Natural variantiVAR_04967115S → L. Corresponds to variant dbSNP:rs1657738Ensembl.1
Natural variantiVAR_059365100I → V1 PublicationCorresponds to variant dbSNP:rs8076599Ensembl.1
Natural variantiVAR_059366118R → Q. Corresponds to variant dbSNP:rs1657740Ensembl.1
Natural variantiVAR_049672156P → L. Corresponds to variant dbSNP:rs1714864Ensembl.1
Natural variantiVAR_059367192Q → H. Corresponds to variant dbSNP:rs1657742Ensembl.1
Natural variantiVAR_049673249I → V. Corresponds to variant dbSNP:rs4985866Ensembl.1
Natural variantiVAR_059368430E → G. Corresponds to variant dbSNP:rs5021699Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L36069 mRNA Translation: AAA65122.1
U53143 Genomic DNA Translation: AAC50615.1
AB074970 Genomic DNA Translation: BAC02718.1
AB182123 mRNA Translation: BAD23901.1
BC027982 mRNA Translation: AAH27982.1
AF005214 mRNA Translation: AAC01951.1
CCDSiCCDS11219.1
PIRiI52864
S71341
RefSeqiNP_066292.2, NM_021012.4
XP_005256682.1, XM_005256625.4
XP_011522133.1, XM_011523831.2
UniGeneiHs.200629

Genome annotation databases

EnsembliENST00000331718; ENSP00000328150; ENSG00000184185
ENST00000583088; ENSP00000463778; ENSG00000184185
GeneIDi3768
KEGGihsa:3768
UCSCiuc002gyv.2 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiKCJ12_HUMAN
AccessioniPrimary (citable) accession number: Q14500
Secondary accession number(s): O43401, Q15756, Q8NG63
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: October 11, 2005
Last modified: June 20, 2018
This is version 171 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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