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KCNK12 potassium two pore domain channel subfamily K member 12 [ Homo sapiens (human) ]

Gene ID: 56660, updated on 27-Nov-2024

Summary

Official Symbol
KCNK12provided by HGNC
Official Full Name
potassium two pore domain channel subfamily K member 12provided by HGNC
Primary source
HGNC:HGNC:6274
See related
Ensembl:ENSG00000184261 MIM:607366; AllianceGenome:HGNC:6274
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
THIK2; THIK-2; K2p12.1
Summary
This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008]
Expression
Biased expression in brain (RPKM 1.7), placenta (RPKM 0.4) and 8 other tissues See more
Orthologs
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Genomic context

See KCNK12 in Genome Data Viewer
Location:
2p16.3
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (47509290..47570985, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (47514342..47576038, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (47736429..47798124, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47596083-47596759 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47596760-47597435 Neighboring gene RN7SK pseudogene 119 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15732 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:47630036-47630746 Neighboring gene epithelial cell adhesion molecule Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:47630747-47631455 Neighboring gene microRNA 559 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47653397-47653896 Neighboring gene mutS homolog 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:47699841-47700005 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15734 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11464 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47761774-47762289 Neighboring gene MSH2 overlapping transcript 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47796495-47797364 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47798518-47799048 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47799049-47799577 Neighboring gene Sharpr-MPRA regulatory region 1309 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15735 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15736 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:47891127-47891628 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:47891629-47892128 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47918101-47918767 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:47921671-47922214 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11466 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47923304-47923848 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47923849-47924392 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:47925482-47926026 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:47928206-47928749 Neighboring gene ribosomal protein L18a pseudogene 6 Neighboring gene NME2 pseudogene 2

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

EBI GWAS Catalog

Description
Genome-wide association study of generalized vitiligo in an isolated European founder population identifies SMOC2, in close proximity to IDDM8.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IDA
Inferred from Direct Assay
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables outward rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables potassium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
enables potassium ion leak channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein heterodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in potassium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
located_in endoplasmic reticulum 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 IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
potassium channel subfamily K member 12
Names
potassium channel, subfamily K, member 12
potassium channel, two pore domain subfamily K, member 12
tandem pore domain halothane-inhibited potassium channel 2
tandem pore domain potassium channel THIK-2

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.

mRNA and Protein(s)

  1. NM_022055.2NP_071338.1  potassium channel subfamily K member 12

    See identical proteins and their annotated locations for NP_071338.1

    Status: REVIEWED

    Source sequence(s)
    AC138655
    Consensus CDS
    CCDS1835.1
    UniProtKB/Swiss-Prot
    Q9HB15
    Related
    ENSP00000327611.3, ENST00000327876.5
    Conserved Domains (1) summary
    pfam07885
    Location:222304
    Ion_trans_2; Ion channel

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    47509290..47570985 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    47514342..47576038 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)