Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a potassium channel containing... See more...

Aliases for KCNK13 Gene

Aliases for KCNK13 Gene

  • Potassium Two Pore Domain Channel Subfamily K Member 13 2 3 5
  • Tandem Pore Domain Halothane-Inhibited Potassium Channel 1 3 4
  • Potassium Channel, Two Pore Domain Subfamily K, Member 13 2 3
  • Potassium Channel, Subfamily K, Member 13 2 3
  • Potassium Channel Subfamily K Member 13 3 4
  • THIK-1 3 4
  • Tandem Pore Domain Potassium Channel THIK-1 3
  • K2P13.1 Potassium Channel 3
  • K2p13.1 3
  • THIK1 3

External Ids for KCNK13 Gene

Previous GeneCards Identifiers for KCNK13 Gene

  • GC14P088033
  • GC14P084344
  • GC14P088518
  • GC14P089597
  • GC14P090528
  • GC14P070702

Summaries for KCNK13 Gene

Entrez Gene Summary for KCNK13 Gene

  • Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a potassium channel containing two pore-forming domains. This protein is an open channel that can be stimulated by arachidonic acid and inhibited by the anesthetic halothane. [provided by RefSeq, Jul 2013]

GeneCards Summary for KCNK13 Gene

KCNK13 (Potassium Two Pore Domain Channel Subfamily K Member 13) is a Protein Coding gene. Diseases associated with KCNK13 include Birk-Barel Syndrome. Among its related pathways are Sweet Taste Signaling 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 KCNK12.

UniProtKB/Swiss-Prot Summary for KCNK13 Gene

  • Potassium channel displaying weak inward rectification in symmetrical K(+) solution.

Tocris Summary for KCNK13 Gene

Gene Wiki entry for KCNK13 Gene

Additional gene information for KCNK13 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KCNK13 Gene

Genomics for KCNK13 Gene

GeneHancer (GH) Regulatory Elements for KCNK13 Gene

Promoters and enhancers for KCNK13 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
GH14J090060 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 500.7 +0.4 436 4.4 CTCF ZIC2 GABPA ZBTB26 REST ZEB1 EZH2 SMC3 CTBP1 ZNF341 KCNK13 lnc-KCNK13-1 RPL21P11 ENSG00000213315 NRDE2 TDP1 piR-36588-164
GH14J089953 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 10.8 -105.9 -105914 4.9 HNRNPK FOXK2 ZBTB40 ZNF217 EP300 CTCF SIN3A MYC NRF1 POLR2G TDP1 EFCAB11 ENSG00000259053 lnc-KCNK13-3 NRDE2 ENSG00000213315 KCNK13 RPL21P11
GH14J090094 Enhancer 0.6 FANTOM5 Ensembl 29 +32.8 32835 5.2 FOS STAT3 ZNF121 YY1 KCNK13 piR-36588-164 piR-52916-009
GH14J090294 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 11.4 +237.7 237736 13.4 HNRNPK EP300 CTCF USF1 TCF7 REST RAD21 ZSCAN9 PCBP1 ZNF316 NRDE2 CALM1 PSMC1 KCNK13 ENSG00000287437 piR-53954
GH14J090255 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 7.2 +195.3 195336 2.6 ZBTB40 ZNF217 SIN3A POLR2G SP1 GTF2E2 PHF8 ZFX SIX5 REST PSMC1 TDP1 KCNK13 piR-57621
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KCNK13 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KCNK13

Top Transcription factor binding sites by QIAGEN in the KCNK13 gene promoter:
  • AhR
  • Arnt
  • ATF-2
  • FAC1
  • HOXA3
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2
  • PPAR-alpha
  • XBP-1

Genomic Locations for KCNK13 Gene

Genomic Locations for KCNK13 Gene
chr14:90,061,765-90,185,857
(GRCh38/hg38)
Size:
124,093 bases
Orientation:
Plus strand
chr14:90,528,108-90,652,201
(GRCh37/hg19)
Size:
124,094 bases
Orientation:
Plus strand

Genomic View for KCNK13 Gene

Genes around KCNK13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNK13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNK13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNK13 Gene

Proteins for KCNK13 Gene

  • Protein details for KCNK13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HB14-KCNKD_HUMAN
    Recommended name:
    Potassium channel subfamily K member 13
    Protein Accession:
    Q9HB14
    Secondary Accessions:
    • B5TJL8
    • Q96E79

    Protein attributes for KCNK13 Gene

    Size:
    408 amino acids
    Molecular mass:
    45391 Da
    Quaternary structure:
    • Homodimer.
    Miscellaneous:
    • The current is enhanced by arachidonic acid and inhibited by halothane.

neXtProt entry for KCNK13 Gene

Post-translational modifications for KCNK13 Gene

  • Glycosylation at Asn59 and Asn65
  • Modification sites at PhosphoSitePlus

Other Protein References for KCNK13 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNK13 Gene

Domains & Families for KCNK13 Gene

Gene Families for KCNK13 Gene

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

Protein Domains for KCNK13 Gene

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

Suggested Antigen Peptide Sequences for KCNK13 Gene

GenScript: Design optimal peptide antigens:
  • Potassium channel, subfamily K, member 13 (B5TJL8_HUMAN)
  • Tandem pore domain halothane-inhibited potassium channel 1 (KCNKD_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9HB14

UniProtKB/Swiss-Prot:

KCNKD_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 KCNK13: view

Function for KCNK13 Gene

Molecular function for KCNK13 Gene

UniProtKB/Swiss-Prot Function:
Potassium channel displaying weak inward rectification in symmetrical K(+) solution.

Phenotypes From GWAS Catalog for KCNK13 Gene

Gene Ontology (GO) - Molecular Function for KCNK13 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 KCNK13: view
genes like me logo Genes that share phenotypes with KCNK13: view

Animal Model Products

  • Taconic Biosciences Mouse Models for KCNK13

CRISPR Products

miRNA for KCNK13 Gene

miRTarBase miRNAs that target KCNK13

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KCNK13 Gene

Localization for KCNK13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNK13 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 KCNK13 gene
Compartment Confidence
plasma membrane 5
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KCNK13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
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 KCNK13: view

Pathways & Interactions for KCNK13 Gene

PathCards logo

SuperPathways for KCNK13 Gene

SuperPathway Contained pathways
1 Sweet Taste Signaling
.72
.72
.46
.44
.37
2 Cardiac conduction
3 Activation of cAMP-Dependent PKA
.77
.77
.56
4 Neuropathic Pain-Signaling in Dorsal Horn Neurons
.47
.47
.40
5 Hepatic ABC Transporters
.41
.41
genes like me logo Genes that share pathways with KCNK13: view

Pathways by source for KCNK13 Gene

13 Qiagen pathways for KCNK13 Gene
  • Activation of cAMP-Dependent PKA
  • Aldosterone Signaling in Epithelial Cells
  • Bitter Taste Signaling
  • cAMP Pathway
  • Cellular Effects of Sildenafil

Interacting Proteins for KCNK13 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000282146 Q9HB14-KCNKD_HUMAN for KCNK13 Gene via STRING IID

;

Gene Ontology (GO) - Biological Process for KCNK13 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 KCNK13: view

No data available for SIGNOR curated interactions for KCNK13 Gene

Drugs & Compounds for KCNK13 Gene

(3) Drugs for KCNK13 Gene - From: DGIdb, IUPHAR, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Halothane Approved, Vet_approved Pharma Inhibitor, Activator, antagonist 2
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 KCNK13 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 KCNK13: view

Transcripts for KCNK13 Gene

mRNA/cDNA for KCNK13 Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNK13 Gene

No ASD Table

Relevant External Links for KCNK13 Gene

GeneLoc Exon Structure for
KCNK13

Expression for KCNK13 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KCNK13 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNK13 Gene

This gene is overexpressed in Testis (x13.3).

Protein differential expression in normal tissues from HIPED for KCNK13 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (64.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KCNK13 Gene



Protein tissue co-expression partners for KCNK13 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KCNK13

SOURCE GeneReport for Unigene cluster for KCNK13 Gene:

Hs.510191

Evidence on tissue expression from TISSUES for KCNK13 Gene

  • Nervous system(4.3)
  • Lung(4)
genes like me logo Genes that share expression patterns with KCNK13: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNK13 Gene

Orthologs for KCNK13 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNK13 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCNK13 31 30
  • 99.51 (n)
OneToOne
dog
(Canis familiaris)
Mammalia KCNK13 31 30
  • 89.05 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnk13 30
  • 85.02 (n)
mouse
(Mus musculus)
Mammalia Kcnk13 17 31 30
  • 84.77 (n)
oppossum
(Monodelphis domestica)
Mammalia KCNK13 31
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNK13 31
  • 69 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KCNK13 31
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves KCNK13 31 30
  • 79.98 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNK13 31
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnk13 30
  • 69.69 (n)
zebrafish
(Danio rerio)
Actinopterygii kcnk13a 31 30
  • 67.73 (n)
OneToMany
kcnk13b 31
  • 66 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Ork1 31
  • 7 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea twk-12 32
  • 38 (a)
twk-14 31
  • 29 (a)
OneToMany
Species where no ortholog for KCNK13 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)
  • 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)
  • 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)

Evolution for KCNK13 Gene

ENSEMBL:
Gene Tree for KCNK13 (if available)
TreeFam:
Gene Tree for KCNK13 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KCNK13: view image

Paralogs for KCNK13 Gene

(1) SIMAP similar genes for KCNK13 Gene using alignment to 2 proteins:

  • KCNKD_HUMAN
  • B5TJL8_HUMAN
genes like me logo Genes that share paralogs with KCNK13: view

Variants for KCNK13 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KCNK13 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs35909577 - p.Gly389Ala
rs3814848 - p.Gly305Arg

Additional dbSNP identifiers (rs#s) for KCNK13 Gene

Structural Variations from Database of Genomic Variants (DGV) for KCNK13 Gene

Variant ID Type Subtype PubMed ID
esv2667239 CNV deletion 23128226
esv275480 CNV gain+loss 21479260
esv3581384 CNV loss 25503493
esv3635306 CNV gain 21293372
esv3635307 CNV loss 21293372
esv3892575 CNV gain 25118596
nsv1122924 CNV deletion 24896259
nsv1392 CNV deletion 18451855
nsv832854 CNV gain 17160897
nsv85254 CNV insertion 16902084
nsv974360 CNV duplication 23825009

Variation tolerance for KCNK13 Gene

Residual Variation Intolerance Score: 85.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.05; 75.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KCNK13 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNK13

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNK13 Gene

Disorders for KCNK13 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KCNK13 Gene - From: DISEASES

Disorder Aliases PubMed IDs
birk-barel syndrome
  • birk-barel mental retardation dysmorphism syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KCNK13

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with KCNK13: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KCNK13 Gene

Publications for KCNK13 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 23 54
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  3. 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 23 54
  4. Regulation of two-pore-domain (K2P) potassium leak channels by the tyrosine kinase inhibitor genistein. (PMID: 18516069) Gierten J … Thomas D (British journal of pharmacology 2008) 3 4 54
  5. International Union of Pharmacology. LV. Nomenclature and molecular relationships of two-P potassium channels. (PMID: 16382106) Goldstein SA … Rajan S (Pharmacological reviews 2005) 2 3 54

Products for KCNK13 Gene

Sources for KCNK13 Gene