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Aliases for KCNJ6 Gene

Aliases for KCNJ6 Gene

  • Potassium Channel, Inwardly Rectifying Subfamily J, Member 6 2 3
  • Inward Rectifier K(+) Channel Kir3.2 3 4
  • GIRK-2 3 4
  • KATP-2 3 4
  • KCNJ7 3 4
  • GIRK2 3 4
  • KATP2 3 4
  • BIR1 3 4
  • Potassium Inwardly-Rectifying Channel, Subfamily J, Member 6 2
  • Potassium Channel, Inwardly Rectifying Subfamily J Member 6 4
  • 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. Diseases associated with KCNJ6 include keppen-lubinsky syndrome and lubinsky syndrome. 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.

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

Chromosome:
21
Start:
37,607,376 bp from pter
End:
37,919,731 bp from pter
Size:
312,356 bases
Orientation:
Minus strand

Genomic View for KCNJ6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
GeneLoc Logo Gene 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:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for KCNJ6 Gene

Domains & Families for KCNJ6 Gene

Suggested Antigen Peptide Sequences for KCNJ6 Gene

Graphical View of Domain Structure for InterPro Entry

P48051

UniProtKB/Swiss-Prot:

KCNJ6_HUMAN :
  • Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ6 subfamily.
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

miRNA for KCNJ6 Gene

miRTarBase miRNAs that target KCNJ6

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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 5
cytoskeleton 1
cytosol 1
mitochondrion 1
nucleus 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:0005887 integral component of plasma membrane IBA --
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 & Interactions 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 --
genes like me logo Genes that share ontologies with KCNJ6: view

No data available for SIGNOR curated interactions for KCNJ6 Gene

Drugs & Compounds for KCNJ6 Gene

(19) Drugs for KCNJ6 Gene - From: NovoSeek, HMDB, IUPHAR, DGIdb, PharmGKB, DrugBank, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ethanol Approved Pharma Target 1708
Halothane Approved Pharma Activator, Target, inhibitor 1
Fentanyl Approved, Illicit, Investigational Pharma Partial agonist, Agonist 649
flupirtine Approved, Investigational Pharma Activator 3
Diazoxide Approved Pharma Activator Blocks desensitization of AMPA receptors 20

(5) Additional Compounds for KCNJ6 Gene - From: Tocris, NovoSeek, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
trifluoroacetic acid
  • Acide trifluoroacetique
  • CF3COOH
  • Kyselina trifluoroctova
  • Perfluoroacetic acid
  • Trifluoracetic acid
76-05-1
ZM 226600
147695-92-9
aspartate
KATP
PIP2
genes like me logo Genes that share compounds with KCNJ6: view

Transcripts for KCNJ6 Gene

mRNA/cDNA for KCNJ6 Gene

(3) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(15) Selected AceView cDNA sequences:
(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:

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 (x5.5), Brain - Cerebellar Hemisphere (x5.5), Brain - Substantia nigra (x5.5), and Brain - Cerebellum (x4.4).

Protein differential expression in normal tissues from HIPED for KCNJ6 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with KCNJ6: view

Protein tissue co-expression partners for KCNJ6 Gene

- Elite partner

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia KCNJ6 35
  • 99.45 (n)
  • 100 (a)
KCNJ6 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnj6 35
  • 91.33 (n)
  • 99.29 (a)
oppossum
(Monodelphis domestica)
Mammalia KCNJ6 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNJ6 36
  • 96 (a)
OneToOne
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-1 37
  • 45 (a)
irk-2 37
  • 42 (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

(16) 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
VAR_073431 Keppen-Lubinsky syndrome (KPLBS)

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

Variation tolerance for KCNJ6 Gene

Residual Variation Intolerance Score: 17.17% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.28; 6.23% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(5) MalaCards diseases for KCNJ6 Gene - From: OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
keppen-lubinsky syndrome
  • generalized lipodystrophy-progeroid features-severe intellectual disability syndrome
lubinsky syndrome
  • cataracts and testicular failure
andersen syndrome
  • chylomicron retention disease
intellectual disability
weaver syndrome
  • weaver-williams syndrome
- elite association
Search KCNJ6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KCNJ6_HUMAN
  • Keppen-Lubinsky syndrome (KPLBS) [MIM:614098]: A 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. {ECO:0000269 PubMed:25620207}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KCNJ6

Genetic Association Database (GAD)
KCNJ6
Human Genome Epidemiology (HuGE) Navigator
KCNJ6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNJ6
genes like me logo Genes that share disorders with KCNJ6: view

No data available for Genatlas for KCNJ6 Gene

Publications for KCNJ6 Gene

  1. Molecular mechanism underlying ethanol activation of G-protein-gated inwardly rectifying potassium channels. (PMID: 24145411) Bodhinathan K. … Slesinger P.A. (Proc. Natl. Acad. Sci. U.S.A. 2013) 25 67
  2. In vitro and in vivo enhanced generation of human A9 dopamine neurons from neural stem cells by Bcl-XL. (PMID: 20106970) Courtois E.T. … MartA-nez-Serrano A. (J. Biol. Chem. 2010) 23 67
  3. A KCNJ6 (Kir3.2, GIRK2) gene polymorphism modulates opioid effects on analgesia and addiction but not on pupil size. (PMID: 20220551) LAPtsch J. … Doehring A. (Pharmacogenet. Genomics 2010) 23 67
  4. Inhibition of G-protein-activated inwardly rectifying K+ channels by the selective norepinephrine reuptake inhibitors atomoxetine and reboxetine. (PMID: 20393461) Kobayashi T. … Ikeda K. (Neuropsychopharmacology 2010) 23 67
  5. The Neuronal Splicing Factor Nova Co-Localizes with Target RNAs in the Dendrite. (PMID: 20407637) Racca C. … Darnell R.B. (Front Neural Circuits 2010) 23 67

Products for KCNJ6 Gene

Sources for KCNJ6 Gene

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