KCNJ12 Gene
protein-coding GIFtS: 56
GC17P021220
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potassium inwardly-rectifying channel, subfamily J, member 12 (Previous names: potassium inwardly-rectifying channel, subfamily J, inhibitor 1 ) Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database (Previous symbol: KCNJN1)
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Aliases & Descriptions for KCNJ12
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
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| Aliases |
|---|
| FLJ14167 2 | | IRK2 1, 2, 3 | | KCNJN1 2, 3, 5 | | Kir2.2 1, 2 | | Kir2.2v 1, 2, 3 | | hIRK 2 | | hIRK1 1, 2 | | hkir2.2x 2 | | kcnj12x 2 |
| | | Descriptions |
|---|
| ATP-sensitive inward rectifier potassium channel 12 2 | | Inward rectifier K(+) channel Kir2.2 3 | Potassium channel, inwardly rectifying subfamily J member 12 3 | potassium inwardly-rectifying channel, subfamily J, inhibitor 1 1, 2 | potassium inwardly-rectifying channel, subfamily J, member 12 2 |
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| | Search outside databases for aliases for KCNJ12 genePrevious GC identifers: GC17P021500 GC17P022929 GC17P021184 GC17P021441 GC17P021259 |
Summaries for KCNJ12(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for KCNJ12: 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] UniProtKB/Swiss-Prot: IRK12_HUMAN, Q14500Function: 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. Can be blocked by extracellular barium and cesiumGene Wiki entry for KCNJ12 |
Genomic Location for KCNJ12
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the KCNJ12 gene 
Entrez Gene cytogenetic band: 17p11.2 Ensembl cytogenetic band: 17p11.2 HGNC cytogenetic band: 17p11.1KCNJ12 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 17 GeneLoc Exon Structure GeneLoc location for GC17P021220:
(about GC identifiers)
Start:
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21,220,292 bp from pter |
End:
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21,263,772 bp from pter |
Size:
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43,481 bases |
Orientation:
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plus strand |
| Proteins for KCNJ12
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: IRK12_HUMAN, Q14500 (See
protein sequence)Recommended Name: ATP-sensitive inward rectifier potassium channel 12 Size: 433 amino acids; 49001 Da
Subunit: 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)
Subcellular location: Membrane; Multi-pass membrane protein
Secondary accessions: O43401 Q15756 Q8NG63Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_066292.2
ENSEMBL proteins: ENSP00000328150
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
5 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for KCNJ12: Assays for KCNJ12: | Protein
Domains/ Families for KCNJ12(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry Q14500
ProtoNet protein and cluster: Q14500 3 Blocks protein families: IPB001838 Inward rectifier K+ channel superfamily signature IPB003272 Kir2.2 inward rectifier K+ channel signature IPB013673 Inward rectifier potassium channel N-terminal
UniProtKB/Swiss-Prot: IRK12_HUMAN, Q14500Similarity: Belongs to the inward rectifier-type potassium channel family | Gene Function for KCNJ12
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|                OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_021012
Applied Biosystems Silencer® siRNAs for KCNJ12
Sigma-Aldrich siRNA and siRNA Panels for KCNJ12  Sigma-Aldrich shRNA Panels and shRNA for KCNJ12  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_021012                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_021012                                  untagged cDNA clone in CMV expression vector: NM_021012 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_021012
UniProtKB/Swiss-Prot: IRK12_HUMAN, Q14500Function: 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. Can be blocked by extracellular barium and cesiumGenatlas biochemistry entry for KCNJ12:potassium non voltage-gated channel,inwardly rectifying,subfamily J,alpha subunit KIR2.2,unlikely to be involved in the Smith-Magenis syndrome1 MGI mutant phenotype (inferred from 1 allele ) (MGI details for Kcnj12):
5/7 Gene Ontology (GO) molecular function terms (links to tree view) (see all 7
): About this table | Pathways & Interactions for KCNJ12
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
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Gene Network CentralTM Interacting Genes and Proteins Network for KCNJ12 
5/13 Interacting proteins for KCNJ12 (ENSP000003281503) via UniProtKB, MINT, and/or STRING (see all 13
)About this table
5 Gene Ontology (GO) biological process terms (links to tree view): About this table
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Drugs & Compounds for KCNJ12(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
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Compounds for KCNJ12 available from Tocris Bioscience
| Compound | Action |
CAS
number |
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| ZM 226600 | KATP channel opener | [147695-92-9] | | Minoxidil | K+ channel (KATP) opener | [38304-91-5] | | PNU 37883 hydrochloride | Vascular KATP channel blocker | [57568-80-6] | | Diazoxide | Blocks desensitization of AMPA receptors | [364-98-7] | | Y-27152 | Prodrug of KATP channel opener Y-26763; orally active in vivo | [127408-30-4] | About this table
1 Novoseek chemical compound relationship for KCNJ12 gene
About this table
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Transcripts for KCNJ12(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|                OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_021012
Sigma-Aldrich siRNA and siRNA Panels for KCNJ12  Sigma-Aldrich shRNA Panels and shRNA for KCNJ12  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_021012 REFSEQ mRNAs for KCNJ12 gene: NM_021012.4
Applied Biosystems TaqMan ® Gene Expression Assays: NM_021012               OriGene GFP tagged cDNA clone in CMV expression vector: NM_021012                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_021012                                  untagged cDNA clone in CMV expression vector: NM_021012  20 AceView cDNA sequences:NM_021012 BX279845 CD673578 BE550570 AW299543 AB182123 F29406 BE783053 AW299888 AI916525 BC027982 BV189339 BX387181 BE552277 AF005214 BM692647 L36069 AW297073 BX345071 BG332575
highest scoring ESTs for KCNJ12:L36069 AF005214 AI916525 AW297073 AW299543 AW299888 BC027982 BE550570 BE552277 BM692647
GeneLoc Exon Structure
1 Ensembl transcript including schematic representation: ENST00000331718
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Expression for KCNJ12
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| KCNJ12 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for KCNJ12
1 / 2 / 3 7 probe-sets matching KCNJ12 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: TTATTTTCAA
Expression variation in blood from EXPOLDB for KCNJ12 |
Orthologs for KCNJ12
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
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Orthologs for KCNJ12 gene from 5/9 species (see all 9
)
| Organism |
Gene |
Locus |
Description |
Human Similarity |
NCBI accessions |
dog (Canis familiaris) |
KCNJ121 |
-- |
potassium inwardly-rectifying channel, subfamily J, more |
91.47(n) 97.85(a) |
403760 XM_546667.2 XP_546667.2 |
chimpanzee (Pan troglodytes) |
KCNJ121 |
-- |
potassium inwardly-rectifying channel, subfamily J, more |
98.77(n) 98.15(a) |
746628 XM_001154349.1 XP_001154349.1 |
cow (Bos taurus) |
KCNJ121 |
-- |
potassium inwardly-rectifying channel, subfamily J, more |
90.55(n) 96.25(a) |
538479 NM_001024690.1 NP_001019861.1 |
rat (Rattus norvegicus) |
Kcnj121 |
-- |
potassium inwardly-rectifying channel, subfamily J, more |
89.38(n) 97.42(a) |
117052 NM_053981.1 NP_446433.1 |
mouse (Mus musculus) |
Kcnj121, 5 |
11 (34.15 cM)5
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potassium inwardly-rectifying channel, subfamily J, more1, 5 |
89.46(n)1 97.19(a)1 |
165151 NM_010603.41 NP_034733.21 AB0358895 AK0172995 (see all 11) |
About this table Species with no ortholog for KCNJ12
ENSEMBL Gene Tree for KCNJ12 | Paralogs for KCNJ12(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for KCNJ12 gene
- KCNJ42 KCNJ22 KCNJ142
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SNPs/Variants for KCNJ12(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
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HapMap Linkage Disequilibrium images for KCNJ12 (up to first 250kb)
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Disorders & Mutations for KCNJ12
(in which this Gene is Involved, According to
OMIM, UniProtKB,
PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
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OMIM: 602323
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Medical News for KCNJ12(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for KCNJ12 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/30 PubMed articles for KCNJ12 gene (see all 30
):- Identification of human Kir2.2 (KCNJ12) gene encoding functional inward rectifier potassium channel in both mammalian cells and Xenopus oocytes. (PubMed id 12417321)1, 2, 3, 4 Kaibara M....Taniyama K. (2002)
- Cloning and functional expression of an inwardly rectifying K+ channel from human atrium. (PubMed id 7859381)2, 3, 4 Wible B.A.... Brown A.M. (1995)
- International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels. (PubMed id 16382105)2, 3 Kubo Y....Vandenberg C.A. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- An alternate promoter directs expression of a truncated, muscle- specific isoform of the human ankyrin 1 gene. (PubMed id 9430667)3, 4 Gallagher P.G. and Forget B.G. (1998)
- Kir2.2v: a possible negative regulator of the inwardly rectifying K+ channel Kir2.2. (PubMed id 8647284)3, 4 Namba N.... Seino S. (1996)
- Functional expression of Kir2.x in human aortic endothelial cells: the dominant role of Kir2.2. (PubMed id 15958527)1, 3 Fang Y....Levitan I. (2005)
- The inwardly rectifying potassium channel subunit Kir2.2v (KCNJN1) maps to 17p11.2-->p11.1. (PubMed id 9533018)1, 3 Namba N....Seino Y. (1997)
- Regulation of cardiac inwardly rectifying potassium current IK1 and Kir2.x channels by endothelin-1. (PubMed id 16258766)1, 3 Kiesecker C....Karle C.A. (2006)
- Plasticity of KIR channels in human smooth muscle cells from internal thoracic artery. (PubMed id 12598232)1, 3 Karkanis T....Sims S.M. (2003)
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Search for KCNJ12
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
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Genome Databases showing KCNJ12
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing KCNJ12
(According to HUGE)
About This Section
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Specialized Databases showing KCNJ12(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
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| About This Section
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| Services for KCNJ12(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
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 Products for KCNJ12:

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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009
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