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Aliases for KCNJ12 Gene

Aliases for KCNJ12 Gene

  • Potassium Voltage-Gated Channel Subfamily J Member 12 2 3 5
  • Potassium Inwardly-Rectifying Channel, Subfamily J, Inhibitor 1 2 3
  • 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 3
  • Potassium Channel, Inwardly Rectifying Subfamily J Member 12 4
  • ATP-Sensitive Inward Rectifier Potassium Channel 12 3
  • 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
  • GC17P022697
  • GC17P023028

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. Diseases associated with KCNJ12 include Long Qt Syndrome 1. Among its related pathways are Transmission across Chemical Synapses and Cardiac conduction. GO annotations related to this gene include inward rectifier potassium channel activity. An important paralog of this gene is KCNJ18.

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F021369 1.1 Ensembl ENCODE 26.2 -5.5 -5491 1.7 HDAC1 ATF1 CBX3 PKNOX1 ARNT KLF17 CHAMP1 ZNF121 ZNF335 GLIS2 KCNJ12 GC17P023827
GH17F021358 1 Ensembl ENCODE 17.6 -17.1 -17115 1.8 CTCF KLF1 MXI1 HLF KLF17 MAX ZBTB8A E2F4 ZNF623 ZIC2 KCNJ12 GC17P023827 GC17M021334
GH17F021281 1.3 FANTOM5 ENCODE 14.8 -90.0 -90037 9.2 HDGF PKNOX1 MLX WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF548 MAP2K3 KCNJ12 DHRS7B NATD1 GC17P023388
GH17F021277 1.4 Ensembl ENCODE 13.8 -97.0 -96997 3.2 HDGF ARID4B SIN3A DMAP1 ZNF48 ZNF2 GLIS2 ZNF207 ZNF143 ZNF263 KCNJ12 DHRS7B NATD1 MAP2K3 PIR52124
GH17F021345 1.1 Ensembl ENCODE 12.4 -28.6 -28608 4.0 HDGF PKNOX1 RFX5 ZNF335 GLIS2 ZNF138 SCRT2 RCOR1 CREM EGR2 KCNJ12 UPF3AP2 GC17M021334 GC17P023827
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00001342883 704 1800 HDGF ARID4B SIN3A DMAP1 ZNF2 ZNF48 GLIS2 ZNF143 ZNF207 KDM4B

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

Post-translational modifications for KCNJ12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KCNJ12 Gene

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:0005242 inward rectifier potassium channel activity IDA 20921230
GO:0005244 voltage-gated ion channel activity IEA --
GO:0015467 G-protein activated inward rectifier potassium channel activity TAS --
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

Inhibitory RNA Products

Flow Cytometry 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:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031224 intrinsic component of membrane IDA 20921230
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:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IDA 20921230
GO:0006936 muscle contraction TAS 7859381
GO:0008016 regulation of heart contraction TAS 7859381
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

(11) Drugs for KCNJ12 Gene - From: DrugBank, ApexBio, DGIdb, FDA Approved Drugs, 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, Vet_approved Pharma Antagonist, Target 27
Tikosyn Capsules Approved October 1999 Pharma 0
Glyburide Approved Pharma Channel blocker Kir6 (KATP) channel blocker 111
Nicorandil Approved Pharma Activator Potassium channel activator, Kir6 (KATP) channel opener and NO donor 17

(5) Tocris Compounds for KCNJ12 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
Nicorandil Kir6 (KATP) channel opener and NO donor 65141-46-0
Tertiapin-Q Selective blocker of inward-rectifier K+ channels 252198-49-5
Y-26763 Kir6 (KATP) channel opener 127408-31-5

(1) ApexBio Compounds for KCNJ12 Gene

Compound Action Cas Number
Dofetilide 115256-11-6
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:

Inhibitory RNA Products

Flow Cytometry Products

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



Protein tissue co-expression partners for KCNJ12 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KCNJ12 Gene:

KCNJ12

SOURCE GeneReport for Unigene cluster for KCNJ12 Gene:

Hs.200629
genes like me logo Genes that share expression patterns with KCNJ12: view

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
chimpanzee
(Pan troglodytes)
Mammalia KCNJ12 34 35
  • 98.77 (n)
dog
(Canis familiaris)
Mammalia KCNJ12 34 35
  • 91.98 (n)
cow
(Bos Taurus)
Mammalia KCNJ12 34 35
  • 90.4 (n)
mouse
(Mus musculus)
Mammalia Kcnj12 34 16 35
  • 89.54 (n)
rat
(Rattus norvegicus)
Mammalia Kcnj12 34
  • 89.46 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KCNJ12 35
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCNJ12 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves KCNJ12 34 35
  • 76.35 (n)
lizard
(Anolis carolinensis)
Reptilia KCNJ12 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496092 34
  • 70.33 (n)
zebrafish
(Danio rerio)
Actinopterygii KCNJ12 (1 of 2) 35
  • 78 (a)
OneToMany
LOC569146 34
  • 74.42 (n)
KCNJ12 (2 of 2) 35
  • 74 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001281 34
  • 58.9 (n)
fruit fly
(Drosophila melanogaster)
Insecta Irk2 36 34
  • 56.46 (n)
Ir 36
  • 52 (a)
Irk3 36
  • 36 (a)
worm
(Caenorhabditis elegans)
Secernentea irk-2 36 34 35
  • 54.18 (n)
irk-1 36 35
  • 47 (a)
Species where no ortholog for KCNJ12 was found in the sources mined by GeneCards:
  • 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
rs10153281 -- 21,414,216(+) ACGCC(C/T)GTAAT intron-variant
rs10568009 -- 21,402,522(+) GCCTG(-/GGGCAG)AGCGA intron-variant
rs10652801 -- 21,395,568(+) TTCTC(-/A/AA/AAA/AAAA)AAAAA intron-variant
rs10714057 -- 21,402,351(+) GCCTG(-/T)TTTTT intron-variant
rs111210528 -- 21,407,861(+) ACCCT(C/T)ACACC intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1435n106 CNV duplication 24896259
dgv1436n106 CNV deletion 24896259
dgv1437n106 CNV duplication 24896259
dgv1715e59 CNV duplication 20981092
dgv3123n100 CNV gain 25217958
dgv3124n100 CNV gain 25217958
dgv363n27 CNV gain 19166990
dgv5503n54 CNV gain 21841781
dgv897e212 CNV gain 25503493
esv2262583 CNV deletion 18987734
esv2498808 CNV deletion 19546169
esv2660756 CNV deletion 23128226
esv2758681 CNV gain+loss 17122850
esv2763159 CNV gain 21179565
esv3159345 CNV deletion 24192839
esv33687 CNV gain 17666407
esv34477 CNV gain 17911159
esv3448571 OTHER inversion 20981092
esv3554262 CNV deletion 23714750
esv3640231 CNV gain 21293372
esv3640232 CNV loss 21293372
esv7290 CNV loss 19470904
nsv1059146 CNV gain 25217958
nsv1070819 CNV deletion 25765185
nsv1076443 CNV duplication 25765185
nsv1077837 CNV duplication 25765185
nsv1078306 OTHER inversion 25765185
nsv1116198 CNV deletion 24896259
nsv1116199 CNV deletion 24896259
nsv1116200 CNV deletion 24896259
nsv112112 CNV deletion 16902084
nsv1123105 CNV deletion 24896259
nsv1123106 CNV deletion 24896259
nsv1127547 CNV deletion 24896259
nsv1138512 CNV deletion 24896259
nsv1146101 CNV duplication 26484159
nsv1148737 CNV deletion 26484159
nsv457709 CNV gain 19166990
nsv511597 CNV loss 21212237
nsv512481 CNV loss 21212237
nsv526270 CNV loss 19592680
nsv574600 CNV gain 21841781
nsv827923 CNV gain 20364138
nsv953854 CNV deletion 24416366
nsv953855 CNV duplication 24416366
nsv953856 CNV deletion 24416366
nsv953857 CNV duplication 24416366
nsv960444 CNV duplication 23825009

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)

Relevant External Links for KCNJ12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNJ12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNJ12 Gene

Disorders for KCNJ12 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KCNJ12 Gene - From: DISEASES

Disorder Aliases PubMed IDs
long qt syndrome 1
  • long qt syndrome 1, acquired
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for KCNJ12

Genetic Association Database (GAD)
KCNJ12
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNJ12
genes like me logo Genes that share disorders with KCNJ12: view

No data available for 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 22 64
  2. Cloning and functional expression of an inwardly rectifying K+ channel from human atrium. (PMID: 7859381) Wible B.A. … Brown A.M. (Circ. Res. 1995) 2 3 4 64
  3. Hundreds of variants clustered in genomic loci and biological pathways affect human height. (PMID: 20881960) Lango Allen H. … Hirschhorn J.N. (Nature 2010) 3 46 64
  4. Direct and specific activation of human inward rectifier K+ channels by membrane phosphatidylinositol 4,5-bisphosphate. (PMID: 20921230) D'Avanzo N. … Nichols C.G. (J. Biol. Chem. 2010) 3 4 64
  5. 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 22 64

Products for KCNJ12 Gene

Sources for KCNJ12 Gene

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