Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

G protein-activated inward rectifier potassium channel 2

Gene

KCNJ6

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

Functioni

This potassium channel may be involved in the regulation of insulin secretion by glucose and/or neurotransmitters acting through G-protein-coupled receptors. 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.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei182Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesiumBy similarity1

GO - Molecular functioni

GO - Biological processi

  • potassium ion import Source: GO_Central
  • potassium ion transport 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-997272 Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits

Protein family/group databases

TCDBi1.A.2.1.10 the inward rectifier k(+) channel (irk-c) family

Names & Taxonomyi

Protein namesi
Recommended name:
G protein-activated inward rectifier potassium channel 2
Short name:
GIRK-2
Alternative name(s):
BIR1
Inward rectifier K(+) channel Kir3.2
KATP-2
Potassium channel, inwardly rectifying subfamily J member 6
Gene namesi
Name:KCNJ6
Synonyms:GIRK2, KATP2, KCNJ7
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

EuPathDBiHostDB:ENSG00000157542.9
HGNCiHGNC:6267 KCNJ6
MIMi600877 gene
neXtProtiNX_P48051

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 – 89CytoplasmicBy similarityAdd BLAST89
Transmembranei90 – 114Helical; Name=M1By similarityAdd BLAST25
Topological domaini115 – 138ExtracellularBy similarityAdd BLAST24
Intramembranei139 – 150Helical; Pore-forming; Name=H5By similarityAdd BLAST12
Intramembranei151 – 157Pore-formingBy similarity7
Topological domaini158 – 166ExtracellularBy similarity9
Transmembranei167 – 188Helical; Name=M2By similarityAdd BLAST22
Topological domaini189 – 423CytoplasmicBy similarityAdd BLAST235

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Keppen-Lubinsky syndrome (KPLBS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare disease characterized by severe developmental delay, intellectual disability, severe generalized lipodystrophy, dysmorphic features including microcephaly, large prominent eyes, narrow nasal bridge, tented upper lip, high palate, open mouth, tightly adherent skin, and aged appearance.
See also OMIM:614098
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073430152Missing in KPLBS. 1 Publication1
Natural variantiVAR_073431154G → S in KPLBS. 1 PublicationCorresponds to variant dbSNP:rs786204795EnsemblClinVar.1

Keywords - Diseasei

Congenital generalized lipodystrophy, Disease mutation

Organism-specific databases

DisGeNETi3763
MalaCardsiKCNJ6
MIMi614098 phenotype
OpenTargetsiENSG00000157542
PharmGKBiPA30049

Chemistry databases

ChEMBLiCHEMBL2406895
DrugBankiDB00898 Ethanol
DB01159 Halothane
GuidetoPHARMACOLOGYi435

Polymorphism and mutation databases

BioMutaiKCNJ6
DMDMi1352487

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001549421 – 423G protein-activated inward rectifier potassium channel 2Add BLAST423

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei16PhosphoserineBy similarity1
Modified residuei23PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiP48051
PeptideAtlasiP48051
PRIDEiP48051

PTM databases

iPTMnetiP48051
PhosphoSitePlusiP48051

Expressioni

Tissue specificityi

Most abundant in cerebellum, and to a lesser degree in islets and exocrine pancreas.

Gene expression databases

BgeeiENSG00000157542
CleanExiHS_KCNJ6
GenevisibleiP48051 HS

Interactioni

Subunit structurei

Associates with GIRK1 or GIRK4 to form a G-protein-activated heteromultimer pore-forming unit. The resulting inward current is much larger. Interacts (via PDZ-binding motif) with SNX27 (via PDZ domain); the interaction is required when endocytosed to prevent degradation in lysosomes and promote recycling to the plasma membrane (By similarity).By similarity

Protein-protein interaction databases

BioGridi109965, 14 interactors
IntActiP48051, 1 interactor
STRINGi9606.ENSP00000288309

Chemistry databases

BindingDBiP48051

Structurei

3D structure databases

ProteinModelPortaliP48051
SMRiP48051
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi152 – 157Selectivity filterBy similarity6
Motifi420 – 423PDZ-binding4

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3827 Eukaryota
ENOG410XQ62 LUCA
GeneTreeiENSGT00760000118842
HOGENOMiHOG000237325
HOVERGENiHBG006178
InParanoidiP48051
KOiK05000
OMAiTIHQPKL
OrthoDBiEOG091G08HC
PhylomeDBiP48051
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
IPR003275 K_chnl_inward-rec_Kir3.2
IPR013518 K_chnl_inward-rec_Kir_cyto
PANTHERiPTHR11767 PTHR11767, 1 hit
PTHR11767:SF19 PTHR11767:SF19, 1 hit
PfamiView protein in Pfam
PF01007 IRK, 1 hit
PIRSFiPIRSF005465 GIRK_kir, 1 hit
PRINTSiPR01328 KIR32CHANNEL
PR01320 KIRCHANNEL
SUPFAMiSSF81296 SSF81296, 1 hit

Sequencei

Sequence statusi: Complete.

P48051-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAKLTESMTN VLEGDSMDQD VESPVAIHQP KLPKQARDDL PRHISRDRTK
60 70 80 90 100
RKIQRYVRKD GKCNVHHGNV RETYRYLTDI FTTLVDLKWR FNLLIFVMVY
110 120 130 140 150
TVTWLFFGMI WWLIAYIRGD MDHIEDPSWT PCVTNLNGFV SAFLFSIETE
160 170 180 190 200
TTIGYGYRVI TDKCPEGIIL LLIQSVLGSI VNAFMVGCMF VKISQPKKRA
210 220 230 240 250
ETLVFSTHAV ISMRDGKLCL MFRVGDLRNS HIVEASIRAK LIKSKQTSEG
260 270 280 290 300
EFIPLNQTDI NVGYYTGDDR LFLVSPLIIS HEINQQSPFW EISKAQLPKE
310 320 330 340 350
ELEIVVILEG MVEATGMTCQ ARSSYITSEI LWGYRFTPVL TLEDGFYEVD
360 370 380 390 400
YNSFHETYET STPSLSAKEL AELASRAELP LSWSVSSKLN QHAELETEEE
410 420
EKNLEEQTER NGDVANLENE SKV
Length:423
Mass (Da):48,451
Last modified:February 1, 1996 - v1
Checksum:i7A02F6B0FBF8B7D4
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073430152Missing in KPLBS. 1 Publication1
Natural variantiVAR_073431154G → S in KPLBS. 1 PublicationCorresponds to variant dbSNP:rs786204795EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U24660 mRNA Translation: AAC50258.1
L78480 mRNA Translation: AAB02277.1
D87327 mRNA Translation: BAA13331.1
U52153 mRNA Translation: AAB07044.1
BC101547 mRNA Translation: AAI01548.1
S78685, S78684 Genomic DNA Translation: AAB34738.2
G02354 Genomic DNA No translation available.
CCDSiCCDS42927.1
PIRiI38979
RefSeqiNP_002231.1, NM_002240.4
UniGeneiHs.626242
Hs.658533
Hs.741904

Genome annotation databases

EnsembliENST00000609713; ENSP00000477437; ENSG00000157542
GeneIDi3763
KEGGihsa:3763
UCSCiuc002ywn.2 human

Similar proteinsi

Entry informationi

Entry nameiKCNJ6_HUMAN
AccessioniPrimary (citable) accession number: P48051
Secondary accession number(s): Q3MJ74, Q53WW6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: February 1, 1996
Last modified: February 28, 2018
This is version 158 of the entry and version 1 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

Cookie policy

We would like to use anonymized google analytics cookies to gather statistics on how uniprot.org is used in aggregate. Learn more

UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health