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

Gene ID: 3768, updated on 3-May-2020

Summary

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
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; Kir2.2v; 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

Genomic context

See KCNJ12 in Genome Data Viewer
Location:
17p11.2
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (21376357..21419870)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (21279699..21323184)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 1 pseudogene 5 Neighboring gene mitogen-activated protein kinase kinase 3 Neighboring gene PDZ and LIM domain 1 pseudogene 2 Neighboring gene uncharacterized LOC105371589 Neighboring gene ribosomal protein L21 pseudogene 120

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ14167

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
ATP-sensitive inward rectifier potassium channel 12
Names
inward rectifier K(+) channel Kir2.2v
inward rectifier K(+) channel Kir2.6
potassium channel, inwardly rectifying subfamily J, member 12
potassium inwardly-rectifying channel, subfamily J, inhibitor 1
potassium voltage-gated channel subfamily J member 12

NCBI Reference Sequences (RefSeq)

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_021012.5NP_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
    Q14500
    Related
    ENSP00000463778.1, ENST00000583088.6
    Conserved Domains (2) summary
    pfam01007
    Location:47374
    IRK; Inward rectifier potassium channel
    pfam08466
    Location:346
    IRK_N; Inward rectifier potassium channel N-terminal

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005256625.5XP_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
    Q14500
    Conserved Domains (2) summary
    pfam01007
    Location:47374
    IRK; Inward rectifier potassium channel
    pfam08466
    Location:346
    IRK_N; Inward rectifier potassium channel N-terminal
  2. XM_011523831.2XP_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
    Q14500
    Related
    ENSP00000328150.5, ENST00000331718.5
    Conserved Domains (2) summary
    pfam01007
    Location:47374
    IRK; Inward rectifier potassium channel
    pfam08466
    Location:346
    IRK_N; Inward rectifier potassium channel N-terminal
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