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    KCNJ12 potassium inwardly rectifying channel subfamily J member 12 [ Homo sapiens (human) ]

    Gene ID: 3768, updated on 3-Apr-2024

    Summary

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    Official Symbol
    KCNJ12provided by HGNC
    Official Full Name
    potassium inwardly rectifying channel subfamily J member 12provided by HGNC
    Primary source
    HGNC:HGNC:6258
    See related
    Ensembl:ENSG00000184185 MIM:602323; AllianceGenome:HGNC:6258
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IRK2; hIRK; IRK-2; hIRK1; KCNJN1; Kir2.2; kcnj12x; hkir2.2x
    Summary
    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]
    Expression
    Broad expression in heart (RPKM 2.3), brain (RPKM 1.4) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    17p11.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (21376357..21419870)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (21325282..21368794)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (21279669..21323182)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:21166079-21166648 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11882 Neighboring gene eukaryotic translation initiation factor 1 pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8318 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8317 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11883 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:21187095-21187595 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11884 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:21190872-21192071 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:21200045-21200584 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:21200745-21201246 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:21201247-21201746 Neighboring gene mitogen-activated protein kinase kinase 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:21212475-21212974 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:21215299-21215916 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:21220325-21220834 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:21221172-21221848 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:21221849-21222525 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:21226043-21226716 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:21241499-21242434 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:21246647-21247147 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:21248662-21249219 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:21249895-21250396 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:21250397-21250896 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:21260572-21261142 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:21261143-21261713 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:21262777-21263487 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:21273483-21274248 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:21274448-21275184 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:21275185-21275920 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:21275921-21276656 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:21276657-21277392 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:21300639-21301238 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:21302987-21303964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:21303965-21304942 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:21307551-21308050 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:21308458-21308958 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:21313097-21314057 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:21314058-21315017 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:21328219-21328718 Neighboring gene uncharacterized LOC124903950 Neighboring gene PDZ and LIM domain 1 pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysis. Fan C, et al. Acta Myol, 2018 Sep. PMID 30838349, Free PMC Article
    2. Whole exome sequencing identifies a KCNJ12 mutation as a cause of familial dilated cardiomyopathy. Yuan HX, et al. Medicine (Baltimore), 2017 Aug. PMID 28816949, Free PMC Article
    3. Rise and Fall of Kir2.2 Current by TLR4 Signaling in Human Monocytes: PKC-Dependent Trafficking and PI3K-Mediated PIP2 Decrease. Kim KS, et al. J Immunol, 2015 Oct 1. PMID 26324774
    4. Altered expression of genes for Kir ion channels in dilated cardiomyopathy. Szuts V, et al. Can J Physiol Pharmacol, 2013 Aug. PMID 23889090
    5. Knockdown of inwardly rectifying potassium channel Kir2.2 suppresses tumorigenesis by inducing reactive oxygen species-mediated cellular senescence. Lee I, et al. Mol Cancer Ther, 2010 Nov. PMID 20841375

    See all (47) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CircRNA hsa_circ_0014130 function as a miR-132-3p sponge for playing oncogenic roles in bladder cancer via upregulating KCNJ12 expression.
      Title: CircRNA hsa_circ_0014130 function as a miR-132-3p sponge for playing oncogenic roles in bladder cancer via upregulating KCNJ12 expression.
    2. Therefore, we conclude that Kir2.2 p.Thr140Met may be most safely interpreted as a SPP susceptibility variant and it should be included in the genetic testing scheme for diagnosing SPP.
      Title: Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysis.
    3. Four of these 16 variants were rare damaging mutations including novel mutations in KCNJ12/KCNJ18, and GPRIN2 genes. This WES study in Iranian patients with ESCC, provides insight into the identification of novel germline mutations in familial ESCC. Our data suggest an association between specific mutations and increased risk of ESCC
      Title: Familial Esophageal Squamous Cell Carcinoma with damaging rare/germline mutations in KCNJ12/KCNJ18 and GPRIN2 genes.
    4. Cellular electrophysiology assays of mouse Kir2.1 and human Kir2.2 indicated that, consistent with simulations, the Leu residue increased the channel responses to phosphatidylinositol diphosphate (PIP2) through increased binding affinity and faster activation kinetics, and the deactivation kinetics decreased upon PIP2 inhibition.
      Title: Structural Basis for Differences in Dynamics Induced by Leu Versus Ile Residues in the CD Loop of Kir Channels.
    5. This report is the first to describe the KCNJ12 gene as a cause of familial dilated cardiomyopathy in patients
      Title: Whole exome sequencing identifies a KCNJ12 mutation as a cause of familial dilated cardiomyopathy.
    6. Nav1.5 N-terminal domain binding to alpha1-syntrophin increases membrane density of human Kir2.1, Kir2.2 and Nav1.5 channels
      Title: Nav1.5 N-terminal domain binding to α1-syntrophin increases membrane density of human Kir2.1, Kir2.2 and Nav1.5 channels.
    7. The augmentation of Ca(2+) influx and cytokine release suggests a physiological role for Kir2.2 in TLR4-stimulated monocytes.
      Title: Rise and Fall of Kir2.2 Current by TLR4 Signaling in Human Monocytes: PKC-Dependent Trafficking and PI3K-Mediated PIP2 Decrease.
    8. Unconventional role of the inwardly rectifying potassium channel Kir2.2 as a constitutive activator of RelA in cancer.
      Title: Unconventional role of the inwardly rectifying potassium channel Kir2.2 as a constitutive activator of RelA in cancer.
    9. Kir2.1 and Kir2.2 have two distinct lipid requirements for activity.
      Title: Dual-mode phospholipid regulation of human inward rectifying potassium channels.
    10. Kir2.2 knockdown induces senescence of cancer cells by a mechanism involving reactive oxygen species accumulation.
      Title: Knockdown of inwardly rectifying potassium channel Kir2.2 suppresses tumorigenesis by inducing reactive oxygen species-mediated cellular senescence.
    Submit: New GeneRIF Correction See all GeneRIFs (19)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ14167

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables inward rectifier potassium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables inward rectifier potassium channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in muscle contraction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in potassium ion import across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in potassium ion transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein homotetramerization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of heart contraction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of monoatomic ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of monoatomic ion channel complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    ATP-sensitive inward rectifier potassium channel 12
    Names
    potassium channel, inwardly rectifying subfamily J, member 12
    potassium voltage-gated channel subfamily J member 12

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_042809.1 RefSeqGene

      Range
      4971..48484
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_021012.5 → NP_066292.2  ATP-sensitive inward rectifier potassium channel 12

      See identical proteins and their annotated locations for NP_066292.2

      Status: REVIEWED

      Source sequence(s)
      AC068418, AK024229, BC027982, BM799671, DA115102
      Consensus CDS
      CCDS11219.1
      UniProtKB/Swiss-Prot
      O43401, Q14500, Q15756, Q8NG63
      UniProtKB/TrEMBL
      Q6L5N3
      Related
      ENSP00000463778.1, ENST00000583088.6
      Conserved Domains (2) summary
      pfam01007
      Location:47 → 374
      IRK; Inward rectifier potassium channel
      pfam08466
      Location:3 → 46
      IRK_N; Inward rectifier potassium channel N-terminal

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      21376357..21419870
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005256625.6 → XP_005256682.1  ATP-sensitive inward rectifier potassium channel 12 isoform X1

      See identical proteins and their annotated locations for XP_005256682.1

      UniProtKB/Swiss-Prot
      O43401, Q14500, Q15756, Q8NG63
      UniProtKB/TrEMBL
      Q6L5N3
      Conserved Domains (2) summary
      pfam01007
      Location:47 → 374
      IRK; Inward rectifier potassium channel
      pfam08466
      Location:3 → 46
      IRK_N; Inward rectifier potassium channel N-terminal

    2. XM_011523831.3 → XP_011522133.1  ATP-sensitive inward rectifier potassium channel 12 isoform X1

      See identical proteins and their annotated locations for XP_011522133.1

      UniProtKB/Swiss-Prot
      O43401, Q14500, Q15756, Q8NG63
      UniProtKB/TrEMBL
      Q6L5N3
      Related
      ENSP00000328150.5, ENST00000331718.5
      Conserved Domains (2) summary
      pfam01007
      Location:47 → 374
      IRK; Inward rectifier potassium channel
      pfam08466
      Location:3 → 46
      IRK_N; Inward rectifier potassium channel N-terminal

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      21325282..21368794
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316004.1 → XP_054171979.1  ATP-sensitive inward rectifier potassium channel 12 isoform X1

      UniProtKB/Swiss-Prot
      O43401, Q14500, Q15756, Q8NG63

    2. XM_054316005.1 → XP_054171980.1  ATP-sensitive inward rectifier potassium channel 12 isoform X1

      UniProtKB/Swiss-Prot
      O43401, Q14500, Q15756, Q8NG63
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14500.2 GenPept UniProtKB/Swiss-Prot:Q14500

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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