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Aliases for KCNJ6 Gene

Aliases for KCNJ6 Gene

  • Potassium Channel, Inwardly Rectifying Subfamily J, Member 6 2 3
  • KCNJ7 3 4 6
  • GIRK2 3 4 6
  • Potassium Inwardly-Rectifying Channel, Subfamily J, Member 6 2 3
  • Inward Rectifier K(+) Channel Kir3.2 3 4
  • GIRK-2 3 4
  • KATP-2 3 4
  • KATP2 3 4
  • BIR1 3 4
  • Potassium Channel, Inwardly Rectifying Subfamily J Member 6 4
  • G Protein-Activated Inward Rectifier Potassium Channel 2 3
  • Inward Rectifier Potassium Channel KIR3.2 3
  • HiGIRK2 3
  • KIR3.2 3
  • KPLBS 3

External Ids for KCNJ6 Gene

Previous HGNC Symbols for KCNJ6 Gene

  • KCNJ7

Previous GeneCards Identifiers for KCNJ6 Gene

  • GC21M035574
  • GC21M037917
  • GC21M037918
  • GC21M038996
  • GC21M024470

Summaries for KCNJ6 Gene

Entrez Gene Summary for KCNJ6 Gene

  • This gene encodes a member of the G protein-coupled inwardly-rectifying potassium channel family of inward rectifier potassium channels. This type of potassium channel allows a greater flow of potassium into the cell than out of it. These proteins modulate many physiological processes, including heart rate in cardiac cells and circuit activity in neuronal cells, through G-protein coupled receptor stimulation. Mutations in this gene are associated with Keppen-Lubinsky Syndrome, a rare condition characterized by severe developmental delay, facial dysmorphism, and intellectual disability. [provided by RefSeq, Apr 2015]

GeneCards Summary for KCNJ6 Gene

KCNJ6 (Potassium Channel, Inwardly Rectifying Subfamily J, Member 6) is a Protein Coding gene. Among its related pathways are G-Beta Gamma Signaling and Circadian entrainment. GO annotations related to this gene include inward rectifier potassium channel activity and G-protein activated inward rectifier potassium channel activity. An important paralog of this gene is KCNJ3.

UniProtKB/Swiss-Prot for KCNJ6 Gene

  • 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

Tocris Summary for KCNJ6 Gene

  • The inward-rectifier potassium channel family (also known as 2-TM channels) include the strong inward-rectifier channels (KIR2.x), the G-protein-activated inward-rectifier channels (KIR3.x) and the ATP-sensitive channels (KIR6.x, which combine with sulphonylurea receptors (SUR)). Structurally, the pore-forming subunit of KIR channels is the alpha-subunit. It contains a single pore domain between two membrane spanning regions. Four alpha-subunits combine to form a tetramer, with the pore domain of each subunit contributing to the structure of the central pore. Heteromeric channels can also be formed within subfamilies, e.g. KIR3.2 with KIR3.3.

Gene Wiki entry for KCNJ6 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNJ6 Gene

Genomics for KCNJ6 Gene

Regulatory Elements for KCNJ6 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for KCNJ6 Gene

Start:
37,607,376 bp from pter
End:
37,916,446 bp from pter
Size:
309,071 bases
Orientation:
Minus strand

Genomic View for KCNJ6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KCNJ6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNJ6 Gene

Proteins for KCNJ6 Gene

  • Protein details for KCNJ6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48051-KCNJ6_HUMAN
    Recommended name:
    G protein-activated inward rectifier potassium channel 2
    Protein Accession:
    P48051
    Secondary Accessions:
    • Q3MJ74
    • Q53WW6

    Protein attributes for KCNJ6 Gene

    Size:
    423 amino acids
    Molecular mass:
    48451 Da
    Quaternary structure:
    • 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).

neXtProt entry for KCNJ6 Gene

Proteomics data for KCNJ6 Gene at MOPED

Post-translational modifications for KCNJ6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KCNJ6 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNJ6 Gene

Domains for KCNJ6 Gene

Gene Families for KCNJ6 Gene

HGNC:
  • KCN :Potassium channels
  • KCNJ :Voltage-gated ion channels / Potassium channels, Inwardly rectifying
IUPHAR :

Suggested Antigen Peptide Sequences for KCNJ6 Gene

Graphical View of Domain Structure for InterPro Entry

P48051

UniProtKB/Swiss-Prot:

KCNJ6_HUMAN :
  • P48051
Family:
  • Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ6 subfamily.
genes like me logo Genes that share domains with KCNJ6: view

Function for KCNJ6 Gene

Molecular function for KCNJ6 Gene

GENATLAS Biochemistry: potassium non voltage-gated channel,inwardly rectifying,subfamily J,member 6,Kir3.2,ATP-regulated,coexpressed with SUR (see symbol) in pancreatic islet,beta cell,unlikely to be involved in juvenile myoclonic epilepsy
UniProtKB/Swiss-Prot Function: 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

Gene Ontology (GO) - Molecular Function for KCNJ6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005242 inward rectifier potassium channel activity TAS 7796919
GO:0005515 protein binding IPI 12297500
GO:0015467 G-protein activated inward rectifier potassium channel activity IEA --
genes like me logo Genes that share ontologies with KCNJ6: view
genes like me logo Genes that share phenotypes with KCNJ6: view

Animal Models for KCNJ6 Gene

MGI Knock Outs for KCNJ6:

Animal Model Products

CRISPR Products

miRNA for KCNJ6 Gene

miRTarBase miRNAs that target KCNJ6

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for KCNJ6 Gene

Localization for KCNJ6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNJ6 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNJ6 Gene COMPARTMENTS Subcellular localization image for KCNJ6 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 4
cytosol 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for KCNJ6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IDA 16780588
GO:0005886 plasma membrane TAS --
GO:0008076 voltage-gated potassium channel complex TAS 7796919
GO:0016021 integral component of membrane --
genes like me logo Genes that share ontologies with KCNJ6: view

Pathways for KCNJ6 Gene

genes like me logo Genes that share pathways with KCNJ6: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Interacting Proteins for KCNJ6 Gene

Selected Interacting proteins: P48051-KCNJ6_HUMAN for KCNJ6 Gene via I2D

Gene Ontology (GO) - Biological Process for KCNJ6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006813 potassium ion transport TAS 7796919
GO:0007268 synaptic transmission TAS --
GO:0010107 potassium ion import IBA --
GO:0034765 regulation of ion transmembrane transport IBA --
GO:0071805 potassium ion transmembrane transport --
genes like me logo Genes that share ontologies with KCNJ6: view

Compounds for KCNJ6 Gene

(5) Tocris Compounds for KCNJ6 Gene

Compound Action Cas Number
Glibenclamide Kir6 (KATP) channel blocker [10238-21-8]
Levcromakalim Kir6 (KATP) channel opener; active enantiomer of cromakalim (Cat. No. 1377) [94535-50-9]
ML 133 hydrochloride Kir2 channel blocker [1222781-70-5]
Tertiapin-Q Selective blocker of inward-rectifier K+ channels [252198-49-5]
VU 590 dihydrochloride Inhibitor of Kir1.1 (ROMK) and Kir7.1 [313505-85-0]

(1) HMDB Compounds for KCNJ6 Gene

Compound Synonyms Cas Number PubMed IDs
Magnesium
  • Magnesium
7439-95-4

(1) Drugbank Compounds for KCNJ6 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Halothane
  • 2-Bromo-2-Chloro-1,1,1-Trifluoroethane
151-67-7 target inhibitor

(3) IUPHAR Ligand for KCNJ6 Gene

Ligand Type Action Affinity Pubmed IDs
SCH-23390 Antagonist Antagonist 9.5
PIP2 Activator Agonist 5.3
Na+ Channel blocker None

(9) Novoseek inferred chemical compound relationships for KCNJ6 Gene

Compound -log(P) Hits PubMed IDs
potassium 62.7 12
pip2 50.8 1
katp 42.4 2
dopamine 27 2
clozapine 25.8 1

(1) PharmGKB related drug/compound annotations for KCNJ6 Gene

Drug/compound Annotation
Analgesics CA
genes like me logo Genes that share compounds with KCNJ6: view

Transcripts for KCNJ6 Gene

mRNA/cDNA for KCNJ6 Gene

(4) Additional mRNA sequences :
(15) Selected AceView cDNA sequences:
(3) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KCNJ6 Gene

Potassium inwardly-rectifying channel, subfamily J, member 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KCNJ6

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNJ6 Gene

No ASD Table

Relevant External Links for KCNJ6 Gene

GeneLoc Exon Structure for
KCNJ6
ECgene alternative splicing isoforms for
KCNJ6

Expression for KCNJ6 Gene

mRNA expression in normal human tissues for KCNJ6 Gene

mRNA differential expression in normal tissues according to GTEx for KCNJ6 Gene

This gene is overexpressed in Pituitary (5.5), Brain - Cerebellar Hemisphere (5.5), Brain - Substantia nigra (5.5), and Brain - Cerebellum (4.4).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for KCNJ6 Gene

SOURCE GeneReport for Unigene cluster for KCNJ6 Gene Hs.658533

mRNA Expression by UniProt/SwissProt for KCNJ6 Gene

P48051-KCNJ6_HUMAN
Tissue specificity: Most abundant in cerebellum, and to a lesser degree in islets and exocrine pancreas
genes like me logo Genes that share expressions with KCNJ6: view

In Situ Assay Products

Orthologs for KCNJ6 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNJ6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCNJ6 35
  • 99.45 (n)
  • 100 (a)
KCNJ6 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KCNJ6 35
  • 90.91 (n)
  • 99.75 (a)
KCNJ6 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNJ6 35
  • 92.43 (n)
  • 99.76 (a)
KCNJ6 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnj6 35
  • 90.23 (n)
  • 99.29 (a)
Kcnj6 16
Kcnj6 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCNJ6 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNJ6 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnj6 35
  • 91.33 (n)
  • 99.29 (a)
chicken
(Gallus gallus)
Aves KCNJ6 35
  • 83.14 (n)
  • 92.67 (a)
KCNJ6 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNJ6 36
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnj9 35
  • 72.63 (n)
  • 81.28 (a)
zebrafish
(Danio rerio)
Actinopterygii kcnj6 35
  • 75.39 (n)
  • 84.79 (a)
KCNJ6 36
  • 81 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Ir 37
  • 50 (a)
Irk2 37
  • 46 (a)
worm
(Caenorhabditis elegans)
Secernentea irk-2 37
  • 42 (a)
irk-1 37
  • 45 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 65 (a)
OneToMany
Species with no ortholog for KCNJ6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KCNJ6 Gene

ENSEMBL:
Gene Tree for KCNJ6 (if available)
TreeFam:
Gene Tree for KCNJ6 (if available)

Paralogs for KCNJ6 Gene

Selected SIMAP similar genes for KCNJ6 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KCNJ6: view

Variants for KCNJ6 Gene

Sequence variations from dbSNP and Humsavar for KCNJ6 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type MAF
rs3392 -- 37,658,669(+) GGCAG(A/C)GCTTA intron-variant
rs702859 -- 37,625,399(-) GAGGA(C/T)GGGTT reference, synonymous-codon
rs702860 -- 37,636,327(-) agttt(A/G)cgtgt intron-variant
rs702861 -- 37,656,751(+) GGATG(A/G)AAGAG intron-variant
rs702862 -- 37,697,857(+) CAAAT(A/G)GGGGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KCNJ6 Gene

Variant ID Type Subtype PubMed ID
nsv913738 CNV Gain 21882294
esv267801 CNV Insertion 20981092
esv273059 CNV Insertion 20981092
esv1008565 CNV Deletion 20482838
esv2723400 CNV Deletion 23290073
esv2723401 CNV Deletion 23290073
esv1076046 CNV Insertion 17803354
esv1561266 CNV Insertion 17803354
esv2723402 CNV Deletion 23290073
esv2723403 CNV Deletion 23290073
esv2723404 CNV Deletion 23290073
esv2611134 CNV Insertion 19546169
esv1381725 CNV Insertion 17803354
esv2723405 CNV Deletion 23290073
esv2723407 CNV Deletion 23290073
esv2723408 CNV Deletion 23290073
esv2650741 CNV Deletion 19546169
esv26215 CNV Loss 19812545
esv2723409 CNV Deletion 23290073
nsv187226 CNV Insertion 16902084
esv1461344 CNV Insertion 17803354
esv2723410 CNV Deletion 23290073
esv1930202 CNV Deletion 18987734
esv2723411 CNV Deletion 23290073
esv2723412 CNV Deletion 23290073

Relevant External Links for KCNJ6 Gene

HapMap Linkage Disequilibrium report
KCNJ6
Human Gene Mutation Database (HGMD)
KCNJ6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNJ6 Gene

Disorders for KCNJ6 Gene

(1) University of Copenhagen DISEASES for KCNJ6 Gene

(3) Novoseek inferred disease relationships for KCNJ6 Gene

Disease -log(P) Hits PubMed IDs
insulinoma 47.9 2
niddm 6.32 5
breast cancer 0 1

Relevant External Links for KCNJ6

Genetic Association Database (GAD)
KCNJ6
Human Genome Epidemiology (HuGE) Navigator
KCNJ6
genes like me logo Genes that share disorders with KCNJ6: view

No data available for UniProtKB/Swiss-Prot for KCNJ6 Gene

Publications for KCNJ6 Gene

  1. Pancreatic islet cells express a family of inwardly rectifying K+ channel subunits which interact to form G-protein-activated channels. (PMID: 7592809) Ferrer J. … Permutt A. (J. Biol. Chem. 1995) 3 4 23
  2. Isolation of a cDNA clone encoding a KATP channel-like protein expressed in insulin-secreting cells, localization of the human gene to chromosome band 21q22.1, and linkage studies with NIDDM. (PMID: 7729621) Tsaur M.-L. … Stoffel M. (Diabetes 1995) 3 4 23
  3. Characterization and variation of a human inwardly-rectifying-K- channel gene (KCNJ6): a putative ATP-sensitive K-channel subunit. (PMID: 7796919) Sakura H. … Ashcroft F.M. (FEBS Lett. 1995) 2 3 4
  4. Functional and biochemical evidence for G-protein-gated inwardly rectifying K+ (GIRK) channels composed of GIRK2 and GIRK3. (PMID: 10956667) Jelacic T.M. … Clapham D.E. (J. Biol. Chem. 2000) 3 23
  5. Association between KCNJ6 (GIRK2) gene polymorphisms and postoperative analgesic requirements after major abdominal surgery. (PMID: 19756153) Nishizawa D. … Ikeda K. (PLoS ONE 2009) 3 23

Products for KCNJ6 Gene

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