Free for academic non-profit institutions. Other users need a Commercial license

Aliases for KCNJ12 Gene

Aliases for KCNJ12 Gene

  • Potassium Channel, Inwardly Rectifying Subfamily J, Member 12 2 3
  • KCNJN1 3 4 6
  • Potassium Inwardly-Rectifying Channel, Subfamily J, Inhibitor 1 2 3
  • Potassium Inwardly-Rectifying Channel, Subfamily J, Member 12 2 3
  • Potassium Channel, Inwardly Rectifying Subfamily J Member 12 3 4
  • Inward Rectifier K(+) Channel Kir2.2v 3 4
  • Inward Rectifier K(+) Channel Kir2.2 3 4
  • IRK-2 3 4
  • IRK2 3 4
  • ATP-Sensitive Inward Rectifier Potassium Channel 12 3
  • Inward Rectifier K(+) Channel Kir2.6 3
  • 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

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 Channel, Inwardly Rectifying Subfamily J, Member 12) is a Protein Coding gene. Diseases associated with KCNJ12 include lens subluxation and bartter disease. Among its related pathways are GABA receptor activation 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 (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 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

Epigenetics Products

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

Genomic Location for KCNJ12 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for KCNJ12

No data available for DME Specific Peptides for KCNJ12 Gene

Domains for KCNJ12 Gene

Gene Families for KCNJ12 Gene

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

Suggested Antigen Peptide Sequences for KCNJ12 Gene

Graphical View of Domain Structure for InterPro Entry

Q14500

UniProtKB/Swiss-Prot:

KCJ12_HUMAN :
  • Q14500
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
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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KCNJ12

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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
cytosol 1
extracellular 1
golgi apparatus 1
nucleus 1

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:0016021 integral component of membrane --
GO:0031224 intrinsic component of membrane IDA 20921230
genes like me logo Genes that share ontologies with KCNJ12: view

Pathways for KCNJ12 Gene

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

PCR Array Products

Gene Ontology (GO) - Biological Process for KCNJ12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006813 potassium ion transport IDA 20921230
GO:0006936 muscle contraction TAS 7859381
GO:0007268 synaptic transmission TAS --
GO:0008016 regulation of heart contraction TAS 7859381
GO:0010107 potassium ion import IBA --
genes like me logo Genes that share ontologies with KCNJ12: view

Compounds for KCNJ12 Gene

(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]
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 KCNJ12 Gene

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

(1) Drugbank Compounds for KCNJ12 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Dofetilide
  • Dofetilida [INN-Spanish]
115256-11-6 target inhibitor

(1) IUPHAR Ligand for KCNJ12 Gene

Ligand Type Action Affinity Pubmed IDs
Mg2+ Antagonist Antagonist

(1) Novoseek inferred chemical compound relationships for KCNJ12 Gene

Compound -log(P) Hits PubMed IDs
potassium 55.2 4
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KCNJ12

Primer 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 (11.0), Brain - Cerebellar Hemisphere (10.5), and Muscle - Skeletal (9.5).

Protein differential expression in normal tissues for KCNJ12 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression 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 expressions with KCNJ12: view

Expression partners for KCNJ12 Gene

In Situ Assay 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

Selected 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 MAF
rs749334 -- 21,411,973(-) TGGGC(A/C)CTTGG intron-variant
rs874959 -- 21,412,028(-) GTGTG(A/T)GAGAG intron-variant
rs934690 -- 21,400,704(-) GCACA(C/T)GAACA intron-variant
rs934691 -- 21,400,692(-) CTCAG(C/G)ACGCT intron-variant
rs934698 -- 21,403,889(+) AGACA(C/G)GATTT intron-variant

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

Relevant External Links for KCNJ12 Gene

HapMap Linkage Disequilibrium report
KCNJ12

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

Disorders for KCNJ12 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for KCNJ12 Gene in MalaCards »

(2) Diseases for KCNJ12 Gene including...

Relevant External Links for KCNJ12

Genetic Association Database (GAD)
KCNJ12
genes like me logo Genes that share disorders with KCNJ12: view

No data available for OMIM , UniProtKB/Swiss-Prot , Novoseek inferred disease relationships 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
  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
  3. Kir2.2v: a possible negative regulator of the inwardly rectifying K+ channel Kir2.2. (PMID: 8647284) Namba N. … Seino S. (FEBS Lett. 1996) 3 4
  4. The inwardly rectifying potassium channel subunit Kir2.2v (KCNJN1) maps to 17p11.2-->p11.1. (PMID: 9533018) Namba N. … Seino Y. (Cytogenet. Cell Genet. 1997) 3 23
  5. Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome. (PMID: 12032359) Preisig-MA1ller R. … Daut J. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 4

Products for KCNJ12 Gene

Sources for KCNJ12 Gene

Back to Top

Content