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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
  • THIK-1 3 4
  • Tandem Pore Domain Potassium Channel THIK-1 3
  • Potassium Channel Subfamily K Member 13 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 Mental Retardation Dysmorphism Syndrome. Among its related pathways are Cardiac conduction and Transmission across Chemical Synapses. 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 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 , fRNAdb sequence ontologies 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
GH14I090060 Promoter/Enhancer 1.4 Ensembl ENCODE 550.8 -1.2 -1222 0.3 SIN3A ZNF2 ZBTB7B GLIS2 KLF13 SP3 REST ZNF610 GMEB1 ZSCAN16 KCNK13 TDP1 PIR51411
GH14I090061 Promoter/Enhancer 1.2 Ensembl ENCODE 550.8 +0.3 336 0.6 CTCF ZNF777 ZBTB6 ZNF189 ZNF449 SUZ12 SIN3A ZBTB8A ZNF335 ZFHX2 KCNK13 GLRXP2
GH14I090063 Promoter 0.8 EPDnew 550.8 -0.1 -86 0.1 ZNF335 ZBTB26 ZBTB20 EZH2 KCNK13 PIR51411
GH14I090062 Enhancer 0.6 ENCODE 550.8 +0.9 927 0.2 SCRT1 SUZ12 SIN3A ZIC2 ZNF335 SCRT2 ZBTB26 EZH2 KCNK13 TDP1 GLRXP2
GH14I089953 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.8 -105.8 -105825 4.7 HDGF PKNOX1 FOXA2 MLX ARID4B NEUROD1 SIN3A DMAP1 ZNF2 YY1 TDP1 ENSG00000259053 EFCAB11 NRDE2 KCNK13 GC14M092124
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KCNK13 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KCNK13 gene promoter:

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)

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 posLast=5959 and isoforms=65
  • 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

Suggested Antigen Peptide Sequences for KCNK13 Gene

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 TAS --
GO:0022841 potassium ion leak channel activity IBA --
genes like me logo Genes that share ontologies with KCNK13: view

Phenotypes for KCNK13 Gene

genes like me logo Genes that share phenotypes with KCNK13: view

Animal Model Products

  • Taconic Biosciences Mouse Models for KCNK13

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
endoplasmic reticulum 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 --
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

genes like me logo Genes that share pathways with KCNK13: view

Interacting Proteins for KCNK13 Gene

Gene Ontology (GO) - Biological Process for KCNK13 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:0030322 stabilization of membrane potential IBA --
GO:0034765 regulation of ion transmembrane transport IEA --
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

(4) Drugs for KCNK13 Gene - From: DGIdb and IUPHAR

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

(2) Additional Compounds for KCNK13 Gene - From:

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(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 :
(3) Additional mRNA sequences :
(12) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KCNK13 Gene

Potassium channel, subfamily K, member 13:
Representative Sequences:

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
ECgene alternative splicing isoforms for
KCNK13

Expression for KCNK13 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of KCNK13 Gene:

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 33 34
  • 99.51 (n)
dog
(Canis familiaris)
Mammalia KCNK13 33 34
  • 89.05 (n)
rat
(Rattus norvegicus)
Mammalia Kcnk13 33
  • 85.02 (n)
mouse
(Mus musculus)
Mammalia Kcnk13 33 16 34
  • 84.77 (n)
oppossum
(Monodelphis domestica)
Mammalia KCNK13 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNK13 34
  • 69 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KCNK13 34
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves KCNK13 33 34
  • 79.98 (n)
lizard
(Anolis carolinensis)
Reptilia KCNK13 34
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnk13 33
  • 69.69 (n)
zebrafish
(Danio rerio)
Actinopterygii kcnk13a 33 34
  • 67.73 (n)
kcnk13b 34
  • 66 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Ork1 34
  • 7 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea twk-12 35
  • 38 (a)
twk-14 34
  • 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)

Paralogs for KCNK13 Gene

Paralogs for KCNK13 Gene

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

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

Variants for KCNK13 Gene

Sequence variations from dbSNP and Humsavar for KCNK13 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1000000373 -- 90,169,672(+) C/A/T intron_variant
rs1000061534 -- 90,126,933(+) A/G intron_variant
rs1000069979 -- 90,143,909(+) C/T intron_variant
rs1000113598 -- 90,127,291(+) C/T intron_variant
rs1000125735 -- 90,151,816(+) G/A intron_variant

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 mental retardation dysmorphism syndrome
  • birk-barel 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 22 58
  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 44 58
  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 22 58
  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 58
  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 58

Products for KCNK13 Gene

Sources for KCNK13 Gene

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