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] See more...

Aliases for KCNK12 Gene

Aliases for KCNK12 Gene

  • Potassium Two Pore Domain Channel Subfamily K Member 12 2 3 5
  • THIK-2 2 3 4
  • Tandem Pore Domain Halothane-Inhibited Potassium Channel 2 3 4
  • Potassium Channel, Two Pore Domain Subfamily K, Member 12 2 3
  • Potassium Channel, Subfamily K, Member 12 2 3
  • Potassium Channel Subfamily K Member 12 3 4
  • K2p12.1 2 3
  • THIK2 2 3
  • Tandem Pore Domain Potassium Channel THIK-2 3
  • KCNK12 5

External Ids for KCNK12 Gene

Previous GeneCards Identifiers for KCNK12 Gene

  • GC02M047763
  • GC02M047916
  • GC02M047722
  • GC02M047659
  • GC02M047747
  • GC02M047483

Summaries for KCNK12 Gene

Entrez Gene Summary for KCNK12 Gene

  • 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]

GeneCards Summary for KCNK12 Gene

KCNK12 (Potassium Two Pore Domain Channel Subfamily K Member 12) is a Protein Coding gene. Diseases associated with KCNK12 include Lynch Syndrome I and Brain Glioblastoma Multiforme. Among its related pathways are Cardiac conduction and Neuropathic Pain-Signaling in Dorsal Horn Neurons. Gene Ontology (GO) annotations related to this gene include potassium channel activity and potassium ion leak channel activity. An important paralog of this gene is KCNK13.

UniProtKB/Swiss-Prot Summary for KCNK12 Gene

  • Probable potassium channel subunit. No channel activity observed in heterologous systems. May need to associate with another protein to form a functional channel (By similarity).

Tocris Summary for KCNK12 Gene

Gene Wiki entry for KCNK12 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KCNK12 Gene

Genomics for KCNK12 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KCNK12 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
GH02J047569 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 250.7 +0.1 85 2.2 ZNF600 KLF9 ZIC2 MXD4 REST KLF11 ZNF341 ZEB1 HOMEZ ZNF217 HSALNG0014761 KCNK12 piR-33323 MSH2
GH02J047533 Enhancer 0.9 Ensembl ENCODE 21.9 +36.0 35985 3.2 JUND ZIC2 FEZF1 ZNF639 ZNF843 ZNF146 BCL11B KLF16 PRDM6 PRDM10 MSH2 KCNK12 MSH2-OT1 RF00951-068 piR-33323
GH02J047616 Enhancer 0.6 Ensembl CraniofacialAtlas 15.8 -46.6 -46616 2.4 SOX5 NR2F6 MAFK ZNF26 SOX13 NR2F1 KCNK12 MSH2-OT1 HSALNG0014763 piR-53338-079 MSH6 MSH2
GH02J047654 Enhancer 1 Ensembl ENCODE 9.5 -84.5 -84516 3.8 ZNF592 POLR2A NFIC REST MNT CTCF NR2C1 SIN3A ZNF316 NFE2 HSALNG0014764 ENSG00000228925 MSH6 SOCS5 STON1 KCNK12 MSH2-OT1 GTF2A1L lnc-MSH2-5 MSH2
GH02J047662 Enhancer 0.6 Ensembl ENCODE 8.2 -92.1 -92116 2.2 ZBTB40 SP1 POU5F1 ZSCAN4 NANOG CHD2 MSH2-OT1 KCNK12 HSALNG0014764 lnc-MSH2-5 MSH6 MSH2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KCNK12 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KCNK12

Top Transcription factor binding sites by QIAGEN in the KCNK12 gene promoter:
  • AhR
  • AP-1
  • Arnt
  • ARP-1
  • HNF-3beta
  • Max1
  • MZF-1
  • NF-1
  • Pax-5

Genomic Locations for KCNK12 Gene

Latest Assembly
chr2:47,509,290-47,570,985
(GRCh38/hg38)
Size:
61,696 bases
Orientation:
Minus strand

Previous Assembly
chr2:47,736,429-47,798,124
(GRCh37/hg19 by Entrez Gene)
Size:
61,696 bases
Orientation:
Minus strand

chr2:47,743,720-47,798,078
(GRCh37/hg19 by Ensembl)
Size:
54,359 bases
Orientation:
Minus strand

Genomic View for KCNK12 Gene

Genes around KCNK12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNK12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNK12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNK12 Gene

Proteins for KCNK12 Gene

  • Protein details for KCNK12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HB15-KCNKC_HUMAN
    Recommended name:
    Potassium channel subfamily K member 12
    Protein Accession:
    Q9HB15

    Protein attributes for KCNK12 Gene

    Size:
    430 amino acids
    Molecular mass:
    46889 Da
    Quaternary structure:
    • Heterodimer.

neXtProt entry for KCNK12 Gene

Post-translational modifications for KCNK12 Gene

  • Glycosylation at Asn78
  • Modification sites at PhosphoSitePlus

Other Protein References for KCNK12 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNK12 Gene

Domains & Families for KCNK12 Gene

Gene Families for KCNK12 Gene

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

Protein Domains for KCNK12 Gene

InterPro:
Blocks:
  • Two pore domain K+ channel signature
  • Ion transport 2, bacterial
  • THIK K+ channel signature

Suggested Antigen Peptide Sequences for KCNK12 Gene

GenScript: Design optimal peptide antigens:
  • Tandem pore domain halothane-inhibited potassium channel 2 (KCNKC_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9HB15

UniProtKB/Swiss-Prot:

KCNKC_HUMAN :
  • Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.
Domain:
  • Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.
genes like me logo Genes that share domains with KCNK12: view

Function for KCNK12 Gene

Molecular function for KCNK12 Gene

UniProtKB/Swiss-Prot Function:
Probable potassium channel subunit. No channel activity observed in heterologous systems. May need to associate with another protein to form a functional channel (By similarity).

Phenotypes From GWAS Catalog for KCNK12 Gene

Gene Ontology (GO) - Molecular Function for KCNK12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005267 potassium channel activity IEA --
GO:0022841 potassium ion leak channel activity IBA 21873635
genes like me logo Genes that share ontologies with KCNK12: view
genes like me logo Genes that share phenotypes with KCNK12: view

Animal Models for research

  • Taconic Biosciences Mouse Models for KCNK12

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNK12

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KCNK12 Gene

Localization for KCNK12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNK12 Gene

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 KCNK12 gene
Compartment Confidence
plasma membrane 4
extracellular 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for KCNK12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KCNK12: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KCNK12 Gene

Pathways & Interactions for KCNK12 Gene

PathCards logo

SuperPathways for KCNK12 Gene

SuperPathway Contained pathways
1 Sweet Taste Signaling
.72
.72
.46
.44
.37
2 Activation of cAMP-Dependent PKA
.77
.77
.56
3 Neuropathic Pain-Signaling in Dorsal Horn Neurons
.47
.47
.40
4 Cardiac conduction
5 Hepatic ABC Transporters
.41
.41
genes like me logo Genes that share pathways with KCNK12: view

Pathways by source for KCNK12 Gene

13 Qiagen pathways for KCNK12 Gene
  • Activation of cAMP-Dependent PKA
  • Aldosterone Signaling in Epithelial Cells
  • Bitter Taste Signaling
  • cAMP Pathway
  • Cellular Effects of Sildenafil

Interacting Proteins for KCNK12 Gene

STRING Interaction Network Preview (showing top 2 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000327611 Q9HB15-KCNKC_HUMAN for KCNK12 Gene via STRING IID

Gene Ontology (GO) - Biological Process for KCNK12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0030322 stabilization of membrane potential IBA 21873635
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0071805 potassium ion transmembrane transport IBA 21873635
genes like me logo Genes that share ontologies with KCNK12: view

No data available for SIGNOR curated interactions for KCNK12 Gene

Drugs & Compounds for KCNK12 Gene

(3) Drugs for KCNK12 Gene - From: DGIdb, IUPHAR, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Halothane Approved, Vet_approved Pharma Inhibitor, antagonist 3
Cesium chloride Pharma Potassium channel blocker, Potassium channel blocker; neuroprotective 0
YS-035 hydrochloride Pharma Inhibits K+ outward/pacemaker current 0

(2) Tocris Compounds for KCNK12 Gene

Compound Action Cas Number
Cesium chloride Potassium channel blocker; neuroprotective 7647-17-8
YS-035 hydrochloride Inhibits K+ outward/pacemaker current 89805-39-0
genes like me logo Genes that share compounds with KCNK12: view

Transcripts for KCNK12 Gene

mRNA/cDNA for KCNK12 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNK12

Alternative Splicing Database (ASD) splice patterns (SP) for KCNK12 Gene

No ASD Table

Relevant External Links for KCNK12 Gene

GeneLoc Exon Structure for
KCNK12

Expression for KCNK12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KCNK12 Gene

mRNA differential expression in normal tissues according to GTEx for KCNK12 Gene

This gene is overexpressed in Nerve - Tibial (x13.5), Brain - Spinal cord (cervical c-1) (x6.5), and Brain - Cerebellar Hemisphere (x4.2).

Protein differential expression in normal tissues from HIPED for KCNK12 Gene

This gene is overexpressed in Saliva (50.8) and Urine (14.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KCNK12 Gene



Protein tissue co-expression partners for KCNK12 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KCNK12

SOURCE GeneReport for Unigene cluster for KCNK12 Gene:

Hs.591586

Evidence on tissue expression from TISSUES for KCNK12 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with KCNK12: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNK12 Gene

Orthologs for KCNK12 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNK12 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KCNK12 29 30
  • 99.69 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KCNK12 29 30
  • 97.25 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KCNK12 29 30
  • 96.67 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Kcnk12 29 16 30
  • 96.2 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Kcnk12 29
  • 95.97 (n)
Oppossum
(Monodelphis domestica)
Mammalia KCNK12 30
  • 88 (a)
OneToOne
Chicken
(Gallus gallus)
Aves KCNK12 29 30
  • 73.47 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KCNK12 30
  • 73 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia kcnk12 29
  • 66.33 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC559153 29
  • 68.94 (n)
KCNK12 30
  • 61 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea twk-14 29 30
  • 44.63 (n)
OneToMany
twk-12 31
  • 37 (a)
Species where no ortholog for KCNK12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • 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 KCNK12 Gene

ENSEMBL:
Gene Tree for KCNK12 (if available)
TreeFam:
Gene Tree for KCNK12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KCNK12: view image
Alliance of Genome Resources:
Additional Orthologs for KCNK12

Paralogs for KCNK12 Gene

(1) SIMAP similar genes for KCNK12 Gene using alignment to 1 proteins:

  • KCNKC_HUMAN
genes like me logo Genes that share paralogs with KCNK12: view

Variants for KCNK12 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KCNK12 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
919550 Uncertain Significance: Hereditary cancer-predisposing syndrome 47,512,363(-) C/G
NM_022055.2(KCNK12):c.*8544G>C
THREE_PRIME_UTR
920227 Benign: Hereditary cancer-predisposing syndrome 47,512,372(-) G/T
NM_022055.2(KCNK12):c.*8535C>A
THREE_PRIME_UTR
921422 Benign: Hereditary cancer-predisposing syndrome 47,512,367(-) G/T
NM_022055.2(KCNK12):c.*8540C>A
THREE_PRIME_UTR
926047 Benign: Hereditary cancer-predisposing syndrome 47,512,428(-) C/T
NM_022055.2(KCNK12):c.*8479G>A
THREE_PRIME_UTR
926048 Benign: Hereditary cancer-predisposing syndrome 47,512,435(-) C/G
NM_022055.2(KCNK12):c.*8472G>C
THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KCNK12 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for KCNK12 Gene

Variant ID Type Subtype PubMed ID
dgv6848n54 CNV loss 21841781
dgv6849n54 CNV gain 21841781
dgv6850n54 CNV gain+loss 21841781
dgv6851n54 CNV loss 21841781
dgv691e214 CNV loss 21293372
esv2675502 CNV deletion 23128226
esv29460 CNV loss 19812545
esv3590632 CNV gain 21293372
nsv1004828 CNV gain 25217958
nsv1144896 CNV deletion 24896259
nsv2717 CNV insertion 18451855
nsv998314 CNV loss 25217958
nsv999576 CNV gain 25217958

Variation tolerance for KCNK12 Gene

Gene Damage Index Score: 0.37; 8.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KCNK12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNK12
Leiden Open Variation Database (LOVD)
KCNK12

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNK12 Gene

Disorders for KCNK12 Gene

MalaCards: The human disease database

(3) MalaCards diseases for KCNK12 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
lynch syndrome i
  • colorectal cancer, hereditary nonpolyposis, type 1; hnpcc1
brain glioblastoma multiforme
  • brain glioblastoma
lynch syndrome
  • coca 1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KCNK12

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with KCNK12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KCNK12 Gene

Publications for KCNK12 Gene

  1. THIK-1 and THIK-2, a novel subfamily of tandem pore domain K+ channels. (PMID: 11060316) Rajan S … Derst C (The Journal of biological chemistry 2001) 2 3 4
  2. Genome-wide association study of generalized vitiligo in an isolated European founder population identifies SMOC2, in close proximity to IDDM8. (PMID: 19890347) Birlea SA … Spritz RA (The Journal of investigative dermatology 2010) 3 40
  3. A high-density association screen of 155 ion transport genes for involvement with common migraine. (PMID: 18676988) Nyholt DR … Palotie A (Human molecular genetics 2008) 3 40
  4. Cellular localization of THIK-1 (K(2P)13.1) and THIK-2 (K(2P)12.1) K channels in the mammalian kidney. (PMID: 18209473) Theilig F … Derst C (Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2008) 3 22
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for KCNK12 Gene

Sources for KCNK12 Gene