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Aliases for KCNJ12 Gene

Aliases for KCNJ12 Gene

  • Potassium Voltage-Gated Channel Subfamily J Member 12 2 3
  • Potassium Inwardly-Rectifying Channel, Subfamily J, Inhibitor 1 2 3
  • Potassium Channel, Inwardly Rectifying Subfamily J, Member 12 3 5
  • Inward Rectifier K(+) Channel Kir2.2v 3 4
  • KCNJN1 3 4
  • IRK-2 3 4
  • IRK2 3 4
  • Potassium Inwardly-Rectifying Channel, Subfamily J, Member 12 2
  • Potassium Channel, Inwardly Rectifying Subfamily J Member 12 4
  • Inward Rectifier K(+) Channel Kir2.6 3
  • Inward Rectifier K(+) Channel Kir2.2 4
  • Hkir2.2x 3
  • Kir2.2v 3
  • Kcnj12x 3
  • Kir2.2 3
  • HIRK1 3
  • HIRK 3

External Ids for KCNJ12 Gene

Previous HGNC Symbols for KCNJ12 Gene

  • KCNJN1

Previous GeneCards Identifiers for KCNJ12 Gene

  • GC17P021500
  • GC17P022929
  • GC17P021184
  • GC17P021441
  • GC17P021220
  • GC17P021259
  • GC17P020482
  • GC17P021339
  • GC17P021532
  • GC17P022222
  • GC17P021843
  • GC17P021907

Summaries for KCNJ12 Gene

Entrez Gene Summary for KCNJ12 Gene

  • This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]

GeneCards Summary for KCNJ12 Gene

KCNJ12 (Potassium Voltage-Gated Channel Subfamily J Member 12) is a Protein Coding gene. Among its related pathways are Inwardly rectifying K+ channels and Transmission across Chemical Synapses. GO annotations related to this gene include inward rectifier potassium channel activity. An important paralog of this gene is KCNJ3.

UniProtKB/Swiss-Prot for KCNJ12 Gene

  • 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.

Tocris Summary for KCNJ12 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 KCNJ12 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNJ12 Gene

Genomics for KCNJ12 Gene

Regulatory Elements for KCNJ12 Gene

Enhancers for KCNJ12 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KCNJ12 on UCSC Golden Path with GeneCards custom track

Promoters for KCNJ12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KCNJ12 on UCSC Golden Path with GeneCards custom track

Genomic Location for KCNJ12 Gene

Chromosome:
17
Start:
21,376,197 bp from pter
End:
21,419,872 bp from pter
Size:
43,676 bases
Orientation:
Plus strand

Genomic View for KCNJ12 Gene

Genes around KCNJ12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNJ12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNJ12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNJ12 Gene

Proteins for KCNJ12 Gene

  • Protein details for KCNJ12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14500-KCJ12_HUMAN
    Recommended name:
    ATP-sensitive inward rectifier potassium channel 12
    Protein Accession:
    Q14500
    Secondary Accessions:
    • O43401
    • Q15756
    • Q8NG63

    Protein attributes for KCNJ12 Gene

    Size:
    433 amino acids
    Molecular mass:
    49001 Da
    Quaternary structure:
    • 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.

neXtProt entry for KCNJ12 Gene

Proteomics data for KCNJ12 Gene at MOPED

Post-translational modifications for KCNJ12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KCNJ12 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNJ12 Gene

Domains & Families for KCNJ12 Gene

Gene Families for KCNJ12 Gene

Suggested Antigen Peptide Sequences for KCNJ12 Gene

Graphical View of Domain Structure for InterPro Entry

Q14500

UniProtKB/Swiss-Prot:

KCJ12_HUMAN :
  • Phosphatidylinositol 4,5-bisphosphate binding to the cytoplasmic side of the channel triggers a conformation change leading to channel opening.
  • Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ12 subfamily.
Domain:
  • Phosphatidylinositol 4,5-bisphosphate binding to the cytoplasmic side of the channel triggers a conformation change leading to channel opening.
Family:
  • Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ12 subfamily.
genes like me logo Genes that share domains with KCNJ12: view

Function for KCNJ12 Gene

Molecular function for KCNJ12 Gene

GENATLAS Biochemistry:
potassium non voltage-gated channel,inwardly rectifying,subfamily J,alpha subunit KIR2.2,unlikely to be involved in the Smith-Magenis syndrome
UniProtKB/Swiss-Prot Function:
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.

Gene Ontology (GO) - Molecular Function for KCNJ12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030165 PDZ domain binding IEA --
genes like me logo Genes that share ontologies with KCNJ12: view
genes like me logo Genes that share phenotypes with KCNJ12: view

Animal Models for KCNJ12 Gene

MGI Knock Outs for KCNJ12:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KCNJ12 Gene

Localization for KCNJ12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNJ12 Gene

Membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNJ12 Gene COMPARTMENTS Subcellular localization image for KCNJ12 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for KCNJ12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0030425 dendrite IEA --
GO:0031224 intrinsic component of membrane IDA 20921230
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with KCNJ12: view

Pathways & Interactions for KCNJ12 Gene

genes like me logo Genes that share pathways with KCNJ12: view

Gene Ontology (GO) - Biological Process for KCNJ12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction TAS 7859381
GO:0008016 regulation of heart contraction TAS 7859381
GO:0051289 protein homotetramerization IDA 21874019
GO:0061337 cardiac conduction TAS --
genes like me logo Genes that share ontologies with KCNJ12: view

No data available for SIGNOR curated interactions for KCNJ12 Gene

Drugs & Compounds for KCNJ12 Gene

(8) Drugs for KCNJ12 Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dofetilide Approved Pharma Pore Blocker, blocker, Target, inhibitor 14
Yohimbine Approved Pharma Antagonist, Target 25
Diazoxide Approved Pharma Activator Blocks desensitization of AMPA receptors 21
Minoxidil Approved Pharma Activator Kir6 channel (KATP) opener 34
Mg<sup>2+</sup> Pharma Channel blocker 0

(2) Additional Compounds for KCNJ12 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
P1075
60559-98-0
ZM 226600
147695-92-9

(5) Tocris Compounds for KCNJ12 Gene

Compound Action Cas Number
Cromakalim Kir6 (KATP) channel opener 94470-67-4
Diazoxide Blocks desensitization of AMPA receptors 364-98-7
Minoxidil Kir6 channel (KATP) opener 38304-91-5
P1075 Potent Kir6 (KATP) channel opener 60559-98-0
ZM 226600 Kir6 (KATP) channel opener 147695-92-9
genes like me logo Genes that share compounds with KCNJ12: view

Transcripts for KCNJ12 Gene

mRNA/cDNA for KCNJ12 Gene

Unigene Clusters for KCNJ12 Gene

Potassium inwardly-rectifying channel, subfamily J, member 12:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KCNJ12 Gene

No ASD Table

Relevant External Links for KCNJ12 Gene

GeneLoc Exon Structure for
KCNJ12
ECgene alternative splicing isoforms for
KCNJ12

Expression for KCNJ12 Gene

mRNA expression in normal human tissues for KCNJ12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNJ12 Gene

This gene is overexpressed in Brain - Cerebellum (x11.0), Brain - Cerebellar Hemisphere (x10.5), and Muscle - Skeletal (x9.5).

Protein differential expression in normal tissues from HIPED for KCNJ12 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KCNJ12 Gene



SOURCE GeneReport for Unigene cluster for KCNJ12 Gene Hs.200629

genes like me logo Genes that share expression patterns with KCNJ12: view

Protein tissue co-expression partners for KCNJ12 Gene

- Elite partner

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for KCNJ12 Gene

Orthologs for KCNJ12 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNJ12 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KCNJ12 35
  • 90.4 (n)
  • 96.02 (a)
KCNJ12 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNJ12 35
  • 91.98 (n)
  • 98.83 (a)
KCNJ12 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnj12 35
  • 89.54 (n)
  • 97.42 (a)
Kcnj12 16
Kcnj12 36
  • 79 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KCNJ12 35
  • 98.77 (n)
  • 98.15 (a)
KCNJ12 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnj12 35
  • 89.46 (n)
  • 97.66 (a)
oppossum
(Monodelphis domestica)
Mammalia KCNJ12 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNJ12 36
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves KCNJ12 35
  • 76.35 (n)
  • 86.89 (a)
KCNJ12 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNJ12 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496092 35
  • 70.33 (n)
  • 83.77 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC569146 35
  • 74.42 (n)
  • 79.53 (a)
KCNJ12 (1 of 2) 36
  • 78 (a)
OneToMany
KCNJ12 (2 of 2) 36
  • 74 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Ir 37
  • 52 (a)
Irk2 37
  • 50 (a)
Irk3 37
  • 36 (a)
Irk2 35
  • 56.46 (n)
  • 49.44 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001281 35
  • 58.9 (n)
  • 53.07 (a)
worm
(Caenorhabditis elegans)
Secernentea irk-1 37
  • 47 (a)
irk-2 37
  • 49 (a)
irk-2 35
  • 54.18 (n)
  • 51.36 (a)
irk-1 36
  • 32 (a)
ManyToMany
irk-2 36
  • 40 (a)
ManyToMany
Species with no ortholog for KCNJ12:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 KCNJ12 Gene

ENSEMBL:
Gene Tree for KCNJ12 (if available)
TreeFam:
Gene Tree for KCNJ12 (if available)

Paralogs for KCNJ12 Gene

(16) SIMAP similar genes for KCNJ12 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for KCNJ12 Gene

genes like me logo Genes that share paralogs with KCNJ12: view

Variants for KCNJ12 Gene

Sequence variations from dbSNP and Humsavar for KCNJ12 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs3752032 - 21,415,359(+) CAGCC(A/G/T)GGCCA reference, missense
rs1657738 - 21,415,386(+) GTCAT(A/C/T)GGAGG reference, missense, stop-gained
rs1714864 - 21,415,809(-) CCACC(A/G)GGCAC reference, missense
rs4985866 - 21,416,087(+) ACCAG(A/G)TCGAC reference, missense
rs8076599 - 21,415,640(+) TCGGC(A/G)TCATC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for KCNJ12 Gene

Variant ID Type Subtype PubMed ID
nsv907888 CNV Gain 21882294
nsv907889 CNV Gain 21882294
dgv937e1 CNV Complex 17122850
nsv907890 CNV Gain 21882294
nsv907891 CNV Loss 21882294
esv2660756 CNV Deletion 23128226
dgv363n27 CNV Gain 19166990
nsv457709 CNV Gain 19166990
nsv526270 CNV Loss 19592680
esv34477 CNV Gain 17911159
esv2715759 CNV Deletion 23290073
esv2715760 CNV Deletion 23290073
nsv827923 CNV Gain 20364138
esv33687 CNV Gain 17666407
nsv511597 CNV Loss 21212237
esv2498808 CNV Deletion 19546169
esv2262583 CNV Deletion 18987734
nsv512481 CNV Loss 21212237
esv7290 CNV Loss 19470904
nsv112112 CNV Loss 16902084
esv2715761 CNV Deletion 23290073

Variation tolerance for KCNJ12 Gene

Residual Variation Intolerance Score: 99.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 22.19; 99.40% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for KCNJ12 Gene

Disorders for KCNJ12 Gene

Relevant External Links for KCNJ12

Genetic Association Database (GAD)
KCNJ12
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNJ12

No disorders were found for KCNJ12 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KCNJ12 Gene

Publications for KCNJ12 Gene

  1. Identification of human Kir2.2 (KCNJ12) gene encoding functional inward rectifier potassium channel in both mammalian cells and Xenopus oocytes. (PMID: 12417321) Kaibara M. … Taniyama K. (FEBS Lett. 2002) 2 3 4 23 67
  2. Regulation of cardiac inwardly rectifying potassium current IK1 and Kir2.x channels by endothelin-1. (PMID: 16258766) Kiesecker C. … Karle C.A. (J. Mol. Med. 2006) 3 23
  3. International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels. (PMID: 16382105) Kubo Y. … Vandenberg C.A. (Pharmacol. Rev. 2005) 2 3
  4. Functional expression of Kir2.x in human aortic endothelial cells: the dominant role of Kir2.2. (PMID: 15958527) Fang Y. … Levitan I. (Am. J. Physiol., Cell Physiol. 2005) 3 23
  5. Plasticity of KIR channels in human smooth muscle cells from internal thoracic artery. (PMID: 12598232) Karkanis T. … Sims S.M. (Am. J. Physiol. Heart Circ. Physiol. 2003) 3 23

Products for KCNJ12 Gene

Sources for KCNJ12 Gene

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