Aliases for KCNK12 Gene
Aliases for KCNK12 Gene
- Potassium Two Pore Domain Channel Subfamily K Member 12 2 3 5
- 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
- THIK-2 3 4
- Tandem Pore Domain Potassium Channel THIK-2 3
- Potassium Channel Subfamily K Member 12 3
- K2p12.1 3
- THIK2 3
External Ids for KCNK12 Gene
- HGNC: 6274
- Entrez Gene: 56660
- Ensembl: ENSG00000184261
- OMIM: 607366
- UniProtKB: Q9HB15
Previous GeneCards Identifiers for KCNK12 Gene
- GC02M047763
- GC02M047916
- GC02M047722
- GC02M047659
- GC02M047747
Summaries 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. Among its related pathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Sweet Taste Signaling. 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 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).
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNK12 Gene
Genomics for KCNK12 Gene
Regulatory Elements for KCNK12 Gene
Enhancers for KCNK12 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH02G047654 | 0.9 | ENCODE | 8.7 | -84.4 | -84364 | 0.9 | ATF1 ZNF133 ZNF766 SCRT2 FOS KLF13 CAVIN1 ZBTB11 USF2 HDAC8 | KCNK12 HCG2040054 GC02P047676 |
| GH02G047297 | 1.8 | FANTOM5 Ensembl ENCODE dbSUPER | 3.7 | +271.3 | 271282 | 3.7 | PKNOX1 FOXA2 ATF1 ZNF766 ELK1 KLF13 CAVIN1 ZNF592 MEF2D CREB3 | LOC101927043 EPCAM CALM2 MIR559 KCNK12 PIR58315 PIR36995 |
| GH02G047563 | 0.5 | FANTOM5 | 7.5 | +7.4 | 7421 | 0.2 | MAFK | HCG2040054 KCNK12 MSH2 PIR54322 |
| GH02G047568 | 0.5 | FANTOM5 | 3.5 | +2.6 | 2632 | 0.0 | ZSCAN21 RFX1 BMI1 ATF2 | KCNK12 MSH2 MSH6 FBXO11 PIR54322 |
| GH02G047569 | 1.3 | Ensembl ENCODE | 0.7 | +0.0 | 6 | 3.2 | MLX ZFP64 ARID4B SIN3A ZNF48 SLC30A9 ZNF121 ZNF766 GLIS2 ZNF143 | MSH2 LOC100506235 PPP1R21 KCNK12 PIR54322 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around KCNK12 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for KCNK12 Gene
- Chromosome:
- 2
- Start:
- 47,516,574 bp from pter
- End:
- 47,570,939 bp from pter
- Size:
- 54,366 bases
- Orientation:
- Minus strand
Genomic View for KCNK12 Gene
Genes around KCNK12 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2p16.3 by Ensembl
- 2p16.3 by Entrez Gene
- 2p16.3 by HGNC
KCNK12 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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.
Protein Expression for KCNK12 Gene
Post-translational modifications for KCNK12 Gene
Other Protein References for KCNK12 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for KCNK12
-
Abcam antibodies for KCNK12
- Invitrogen Antibodies for KCNK12
- antibodies-online Antibodies for KCNK12: See all 36
- GeneTex KCNK12 antibody for KCNK12
-
Custom Antibody ServicesProSci Antibodies for KCNK12
Protein Products
-
OriGene Purified Proteins for KCNK12
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- Search GeneTex for Proteins for KCNK12
-
Abcam proteins for KCNK12
Assay Products
No data available for DME Specific Peptides for KCNK12 Gene
Domains & Families for KCNK12 Gene
Gene Families for KCNK12 Gene
Protein Domains for KCNK12 Gene
Suggested Antigen Peptide Sequences for KCNK12 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9HB15UniProtKB/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.
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).
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005244 | voltage-gated ion channel activity | IEA | -- |
| GO:0005267 | potassium channel activity | IEA | -- |
Phenotypes for KCNK12 Gene
- GenomeRNAi human phenotypes for KCNK12:
Animal Model Products
-
Taconic Biosciences Mouse Models for KCNK12
-
ViGene Biosciences lentiviral particle packaged cDNA for KCNK12 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for KCNK12 gene
- Search ViGene Biosciences for KCNK12
CRISPR Products
-
OriGene CRISPR knockouts for KCNK12
-
Santa Cruz Biotechnology (SCBT) CRISPR for KCNK12
- GenScript: Design CRISPR guide RNA sequences for KCNK12
miRNA for KCNK12 Gene
- miRTarBase miRNAs that target KCNK12
-
- hsa-mir-574-5p (MIRT517502)
- hsa-mir-1277-5p (MIRT517503)
- hsa-mir-297 (MIRT517504)
- hsa-mir-6867-5p (MIRT517505)
- hsa-mir-190a-3p (MIRT517506)
- hsa-mir-223-5p (MIRT517507)
- hsa-mir-567 (MIRT517508)
- hsa-mir-6797-3p (MIRT517509)
- hsa-mir-6076 (MIRT517510)
- hsa-mir-511-3p (MIRT517511)
- hsa-mir-586 (MIRT517512)
- hsa-mir-1322 (MIRT517513)
- hsa-mir-5011-5p (MIRT517514)
- hsa-mir-5580-3p (MIRT517515)
- hsa-mir-642a-5p (MIRT626295)
- hsa-mir-4290 (MIRT626296)
- hsa-mir-4469 (MIRT626297)
- hsa-mir-2276-5p (MIRT626298)
- hsa-mir-6892-3p (MIRT626299)
- hsa-mir-4667-3p (MIRT626300)
- hsa-mir-1470 (MIRT626301)
- hsa-mir-3650 (MIRT707402)
- hsa-mir-138-5p (MIRT707403)
- hsa-mir-7978 (MIRT707404)
miRNA Products
- Search ViGene Biosciences for KCNK12
Inhibitory RNA Products
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-
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Cell Line Products
-
Horizon Cell Lines for KCNK12
-
ViGene Biosciences adenoviral particle packaged cDNA for KCNK12 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for KCNK12 gene
-
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Flow Cytometry Products
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 3 |
| endoplasmic reticulum | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for KCNK12 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Sweet Taste Signaling |
.37
|
|
| 2 | Activation of cAMP-Dependent PKA |
.77
|
.56
|
| 3 | Neuropathic Pain-Signaling in Dorsal Horn Neurons | ||
| 4 | Cardiac conduction | ||
| 5 | Hepatic ABC Transporters | ||
Pathways by source for KCNK12 Gene
3 Reactome pathways for KCNK12 Gene
13 Qiagen pathways for KCNK12 Gene
Interacting Proteins for KCNK12 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006810 | transport | IEA | -- |
| GO:0006811 | ion transport | IEA | -- |
| GO:0006813 | potassium ion transport | IEA | -- |
| GO:0034765 | regulation of ion transmembrane transport | IEA | -- |
| GO:0071805 | potassium ion transmembrane transport | IEA | -- |
No data available for SIGNOR curated interactions for KCNK12 Gene
Drugs & Compounds for KCNK12 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Halothane | Approved, Vet_approved | Pharma | Activator, antagonist | 2 | ||
| BL 1249 | Pharma | Putative activator of potassium TREK-1, Putative K2P2.1 (TREK-1) channel opener | 0 | |||
| DMP 543 | Pharma | K+ channel blocker and potent ACh release enhancer | 0 | |||
| ML365 | Pharma | Potent and selective TASK-1 channel blocker | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| PK-THPP |
|
1332454-07-5 |
|
|
||
| Spadin |
|
1270083-24-3 |
|
|
(5) Tocris Compounds for KCNK12 Gene
| Compound | Action | Cas Number |
|---|---|---|
| BL 1249 | Putative K2P2.1 (TREK-1) channel opener | 18200-13-0 |
| DMP 543 | K+ channel blocker and potent ACh release enhancer | 160588-45-4 |
| ML 365 | Potent and selective TASK-1 channel blocker | 947914-18-3 |
| PK-THPP | Potent TASK-3 channel blocker | 1332454-07-5 |
| Spadin | Potent TREK-1 channel blocker | 1270083-24-3 |
Transcripts for KCNK12 Gene
mRNA/cDNA for KCNK12 Gene
- (1) REFSEQ mRNAs :
- (2) Additional mRNA sequences :
- (35) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for KCNK12 Gene
CRISPR Products
-
OriGene CRISPR knockouts for KCNK12
-
Santa Cruz Biotechnology (SCBT) CRISPR for KCNK12
- GenScript: Design CRISPR guide RNA sequences for KCNK12
miRNA Products
- Search ViGene Biosciences for KCNK12
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for KCNK12
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-
ViGene Biosciences ready-to-package AAV shRNAs for KCNK12 gene
Clone Products
-
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- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Flow Cytometry Products
Expression for KCNK12 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Bone (Muscoskeletal System)
- Cartilage (Muscoskeletal System)
- Brain (Nervous System)
- Inner Cell Mass (Early Embryonic Tissues)
- Neural Crest (Gastrulation Derivatives)
- Paraxial Mesoderm (Gastrulation Derivatives)
- Neurons
- Endoderm (Gastrulation Derivatives)
- Neural Tube (Nervous System)
- Primitive Streak (Early Embryonic Tissues)
-
Lymph (Hematopoietic System)
-
Testis (Reproductive System)
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).
This gene is overexpressed in Saliva (50.8) and Urine (14.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KCNK12 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of KCNK12 Gene:
KCNK12SOURCE GeneReport for Unigene cluster for KCNK12 Gene:
Hs.591586Evidence on tissue expression from TISSUES for KCNK12 Gene
- Nervous system(4.3)
Primer Products
-
OriGene qPCR primer pairs and template standards for KCNK12
-
OriGene qPCR primer pairs for KCNK12
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | KCNK12 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | KCNK12 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | KCNK12 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Kcnk12 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Kcnk12 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | KCNK12 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | KCNK12 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | KCNK12 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | kcnk12 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC559153 34 |
|
||
| KCNK12 35 |
|
OneToOne | |||
| worm (Caenorhabditis elegans) |
Secernentea | twk-14 34 35 |
|
||
| twk-12 36 |
|
|
- Species where no ortholog for KCNK12 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 squirt (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)
Paralogs for KCNK12 Gene
(1) SIMAP similar genes for KCNK12 Gene using alignment to 1 proteins:
Variants for KCNK12 Gene
| SNP ID | Clin | Chr 02 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000006941 | -- | 47,556,865(+) | CAGAG(A/G)TGAGA | intron-variant | |
| rs1000013184 | -- | 47,560,331(+) | AGGTA(C/T)TAGGT | intron-variant | |
| rs1000079427 | -- | 47,529,126(+) | TGTCA(A/G)CTGTG | intron-variant, nc-transcript-variant | |
| rs1000081125 | -- | 47,560,716(+) | AGATA(A/C)AAACA | intron-variant | |
| rs1000099648 | -- | 47,551,602(+) | GATGC(C/G)AAATT | intron-variant |
| 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 |
Gene Damage Index Score:
0.37;
8.08% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for KCNK12 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- KCNK12
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNK12 Gene
Disorders for KCNK12 Gene
Relevant External Links for KCNK12
No disorders were found for KCNK12 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KCNK12 Gene
Publications for KCNK12 Gene
- THIK-1 and THIK-2, a novel subfamily of tandem pore domain K+ channels. (PMID: 11060316) Rajan S. … Derst C. (J. Biol. Chem. 2001) 2 3 4 64
- Genome-wide association study of generalized vitiligo in an isolated European founder population identifies SMOC2, in close proximity to IDDM8. (PMID: 19890347) Birlea S.A. … Spritz R.A. (J. Invest. Dermatol. 2010) 3 46 64
- 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. (Cell. Physiol. Biochem. 2008) 3 22 64
- A high-density association screen of 155 ion transport genes for involvement with common migraine. (PMID: 18676988) Nyholt D.R. … Palotie A. (Hum. Mol. Genet. 2008) 3 46 64
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
Products for KCNK12 Gene
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- Mammalian expression: PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for KCNK12 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
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