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] See more...

Aliases for KCNJ12 Gene

Aliases for KCNJ12 Gene

  • Potassium Inwardly Rectifying Channel Subfamily J Member 12 2 3 5
  • IRK2 2 3 4
  • Potassium Inwardly-Rectifying Channel, Subfamily J, Inhibitor 1 2 3
  • ATP-Sensitive Inward Rectifier Potassium Channel 12 3 4
  • Inward Rectifier K(+) Channel Kir2.2v 3 4
  • Kir2.2v 2 3
  • KCNJN1 3 4
  • Kir2.2 2 3
  • IRK-2 3 4
  • HIRK1 2 3
  • 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
  • Potassium Voltage-Gated Channel Subfamily J Member 12 3
  • Inward Rectifier K(+) Channel Kir2.6 3
  • Inward Rectifier K(+) Channel Kir2.2 4
  • Hkir2.2x 3
  • Kcnj12x 3
  • KCNJ12 5
  • 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
  • GC17P025026
  • GC17P025238
  • GC17P025397
  • GC17P026157
  • GC17P022697
  • GC17P023028
  • GC17P023315
  • GC17P023604
  • GC17P023905
  • GC17P024254
  • GC17P024534
  • GC17P024823

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 Inwardly Rectifying Channel Subfamily J Member 12) is a Protein Coding gene. Diseases associated with KCNJ12 include Smith-Magenis Syndrome and Andersen Cardiodysrhythmic Periodic Paralysis. Among its related pathways are Inwardly rectifying K+ channels and Transmission across Chemical Synapses. Gene Ontology (GO) annotations related to this gene include inward rectifier potassium channel activity. An important paralog of this gene is KCNJ18.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for KCNJ12 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KCNJ12 Gene

Genomics for KCNJ12 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KCNJ12 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J021376 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 608 +0.7 744 2.2 PRDM10 ZIC2 ZSCAN4 POLR2A PATZ1 EZH2 ZNF341 ZFX MNT ZBTB20 KCNJ12 lnc-MAP2K3-6 KCNJ18
GH17J021411 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 600.3 +35.4 35367 1.9 CEBPG ZBTB33 ZFX CEBPB ZNF512B SMARCC1 SMARCC2 BRCA1 ESR1 CTBP1 KCNJ12 MEIS3P2 ENSG00000266050 MAP2K3 lnc-MAP2K3-6 KCNJ18
GH17J021281 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 14.8 -90.2 -90197 9.2 SP1 HNRNPL CREB1 GATAD2A ZBTB33 PRDM10 REST ZNF629 TFE3 RFX1 MAP2K3 NONHSAG021195.2 KCNJ12 DHRS7B NATD1 5MWI_A-074
GH17J021368 Enhancer 1.2 FANTOM5 Ensembl ENCODE CraniofacialAtlas 26.2 -6.0 -5956 3.6 PRDM10 ZNF692 ZIC2 POLR2A ZNF600 ZNF341 ZBTB20 SP2 GATAD2B CEBPB KCNJ12 KCNJ18 HSALNG0115272 MAP2K3
GH17J021351 Enhancer 0.4 Ensembl 45.6 -23.4 -23356 2.4 ZIC2 CEBPB ZNF189 ZNF16 KCNJ12 RPL21P120 HSALNG0115272 HSALNG0115270 MAP2K3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KCNJ12 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KCNJ12

Top Transcription factor binding sites by QIAGEN in the KCNJ12 gene promoter:
  • AhR
  • AML1a
  • Arnt
  • FOXO1
  • FOXO1a
  • HNF-4alpha1
  • N-Myc
  • Pax-6
  • ZID

Genomic Locations for KCNJ12 Gene

Genomic Locations for KCNJ12 Gene
chr17:21,376,357-21,419,870
(GRCh38/hg38)
Size:
43,514 bases
Orientation:
Plus strand
chr17:21,279,509-21,323,179
(GRCh37/hg19)
Size:
43,671 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

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Predicted membrane proteins
  • Voltage-gated ion channels

Protein Domains for KCNJ12 Gene

InterPro:
Blocks:
  • Inward rectifier K+ channel superfamily signature
  • Inward rectifier potassium channel N-terminal
  • Kir2.2 inward rectifier K+ channel signature
ProtoNet:

Suggested Antigen Peptide Sequences for KCNJ12 Gene

GenScript: Design optimal peptide antigens:
  • Potassium channel, inwardly rectifying subfamily J member 12 (IRK12_HUMAN)
  • Hkir2.2x (Q6L5N3_HUMAN)

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

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

Phenotypes From GWAS Catalog for KCNJ12 Gene

Gene Ontology (GO) - Molecular Function for KCNJ12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005242 inward rectifier potassium channel activity IBA,IDA 20921230
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005515 protein binding IPI 24550280
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNJ12

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KCNJ12 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Golgi apparatus (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KCNJ12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
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

Pathways by source for KCNJ12 Gene

1 Qiagen pathway for KCNJ12 Gene
  • Dopamine-DARPP32 Feedback onto cAMP Pathway

SIGNOR curated interactions for KCNJ12 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for KCNJ12 Gene

GO ID Qualified GO term Evidence PubMed IDs
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
GO:0034765 regulation of ion transmembrane transport IBA 21873635
genes like me logo Genes that share ontologies with KCNJ12: view

Drugs & Compounds for KCNJ12 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dofetilide Approved, Investigational Pharma Pore Blocker, Target, inhibitor, blocker 18
Butamben Approved, Withdrawn Pharma Target, antagonist 0
Dronedarone Approved Pharma Target, inhibitor 34
Ranolazine Approved, Investigational Pharma Target, inhibitor 85
Yohimbine Approved, Investigational, Vet_approved Pharma Antagonist, Target, inhibitor 36

(5) Tocris Compounds for KCNJ12 Gene

Compound Action Cas Number
Glibenclamide Kir6 (KATP) channel blocker 10238-21-8
Minoxidil Kir6 channel (KATP) opener 38304-91-5
Nicorandil Kir6 (KATP) channel opener and NO donor 65141-46-0
P1075 Potent Kir6 (KATP) channel opener 60559-98-0
ZM 226600 Kir6 (KATP) channel opener 147695-92-9

(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

Drug Products

Transcripts for KCNJ12 Gene

mRNA/cDNA for KCNJ12 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNJ12

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

No ASD Table

Relevant External Links for KCNJ12 Gene

GeneLoc Exon Structure for
KCNJ12

Expression for KCNJ12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for KCNJ12 Gene



Protein tissue co-expression partners for KCNJ12 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KCNJ12

SOURCE GeneReport for Unigene cluster for KCNJ12 Gene:

Hs.200629

Evidence on tissue expression from TISSUES for KCNJ12 Gene

  • Muscle(4.5)
  • Heart(4.5)
  • Eye(4.3)
  • Nervous system(2.6)
  • Kidney(2.4)
genes like me logo Genes that share expression patterns with KCNJ12: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 30 31
  • 98.77 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KCNJ12 30 31
  • 91.98 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KCNJ12 30 31
  • 90.4 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Kcnj12 30 17 31
  • 89.54 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Kcnj12 30
  • 89.46 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia KCNJ12 31
  • 87 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia KCNJ12 31
  • 71 (a)
OneToOne
Chicken
(Gallus gallus)
Aves KCNJ12 30 31
  • 76.35 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KCNJ12 31
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100496092 30
  • 70.33 (n)
Zebrafish
(Danio rerio)
Actinopterygii KCNJ12 (1 of 2) 31
  • 78 (a)
OneToMany
LOC569146 30
  • 74.42 (n)
KCNJ12 (2 of 2) 31
  • 74 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001281 30
  • 58.9 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Irk2 30 32
  • 56.46 (n)
Ir 32
  • 52 (a)
Irk3 32
  • 36 (a)
Worm
(Caenorhabditis elegans)
Secernentea irk-2 30 31 32
  • 54.18 (n)
ManyToMany
irk-1 31 32
  • 32 (a)
ManyToMany
Species where no ortholog for KCNJ12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for KCNJ12: view image

Paralogs for KCNJ12 Gene

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

  • IRK12_HUMAN

Pseudogenes.org Pseudogenes for KCNJ12 Gene

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

Variants for KCNJ12 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KCNJ12 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs1657738 - p.Ser15Leu
rs1657740 - p.Arg118Gln
rs1657742 - p.Gln192His
rs1714864 - p.Pro156Leu
rs3752032 - p.Arg6Gln

Additional dbSNP identifiers (rs#s) for KCNJ12 Gene

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)

Additional Variant Information 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

(15) MalaCards diseases for KCNJ12 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
smith-magenis syndrome
  • sms
andersen cardiodysrhythmic periodic paralysis
  • andersen syndrome
skeletal muscle neoplasm
  • tumor of skeletal muscle
familial periodic paralysis
  • genetic periodic paralysis
hypokalemic periodic paralysis, type 1
  • hokpp1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for 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 letters 2002) 2 3 4 23
  2. Cloning and functional expression of an inwardly rectifying K+ channel from human atrium. (PMID: 7859381) Wible BA … Brown AM (Circulation research 1995) 2 3 4
  3. Direct and specific activation of human inward rectifier K+ channels by membrane phosphatidylinositol 4,5-bisphosphate. (PMID: 20921230) D'Avanzo N … Nichols CG (The Journal of biological chemistry 2010) 3 4
  4. Hundreds of variants clustered in genomic loci and biological pathways affect human height. (PMID: 20881960) Lango Allen H … Hirschhorn JN (Nature 2010) 3 41
  5. Regulation of cardiac inwardly rectifying potassium current IK1 and Kir2.x channels by endothelin-1. (PMID: 16258766) Kiesecker C … Karle CA (Journal of molecular medicine (Berlin, Germany) 2006) 3 23

Products for KCNJ12 Gene

Sources for KCNJ12 Gene