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Aliases for KCNK9 Gene

Aliases for KCNK9 Gene

  • Potassium Two Pore Domain Channel Subfamily K Member 9 2 3 5
  • Potassium Channel, Two Pore Domain Subfamily K, Member 9 2 3
  • Acid-Sensitive Potassium Channel Protein TASK-3 3 4
  • TWIK-Related Acid-Sensitive K(+) Channel 3 3 4
  • Two Pore Potassium Channel KT3.2 3 4
  • Two Pore K(+) Channel KT3.2 3 4
  • TASK3 3 4
  • Potassium Channel, Subfamily K, Member 9 2
  • Potassium Channel Subfamily K Member 9 3
  • K2p9.1 3
  • TASK-3 3
  • KT3.2 3

External Ids for KCNK9 Gene

Previous GeneCards Identifiers for KCNK9 Gene

  • GC08M140782
  • GC08M140309
  • GC08M140595
  • GC08M140693
  • GC08M135936

Summaries for KCNK9 Gene

Entrez Gene Summary for KCNK9 Gene

  • This gene encodes a protein that contains multiple transmembrane regions and two pore-forming P domains and functions as a pH-dependent potassium channel. Amplification and overexpression of this gene have been observed in several types of human carcinomas. This gene is imprinted in the brain, with preferential expression from the maternal allele. A mutation in this gene was associated with Birk-Barel dysmorphism syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]

GeneCards Summary for KCNK9 Gene

KCNK9 (Potassium Two Pore Domain Channel Subfamily K Member 9) is a Protein Coding gene. Diseases associated with KCNK9 include Birk-Barel Mental Retardation Dysmorphism Syndrome and Kcnk9 Imprinting Syndrome. Among its related pathways are Hepatic ABC Transporters and Sweet Taste Signaling. GO annotations related to this gene include protein homodimerization activity and potassium channel activity. An important paralog of this gene is KCNK3.

UniProtKB/Swiss-Prot for KCNK9 Gene

  • pH-dependent, voltage-insensitive, background potassium channel protein.

Tocris Summary for KCNK9 Gene

Gene Wiki entry for KCNK9 Gene

Additional gene information for KCNK9 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNK9 Gene

Genomics for KCNK9 Gene

Regulatory Elements for KCNK9 Gene

Enhancers for KCNK9 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
GH08H140098 1.3 FANTOM5 ENCODE 16.5 -395.9 -395908 1.8 ELF3 FOXA2 SIN3A DMAP1 RAD21 GLIS2 ZNF143 RUNX3 MIXL1 EGR2 KCNK9 TRAPPC9 PEG13 GC08P140091
GH08H139841 1.1 ENCODE dbSUPER 10.5 -139.2 -139166 1.5 ELF3 FOXA2 MLX ARID4B RAD21 RARA RCOR1 CREM MIXL1 SP5 KCNK9 GC08P139797 LOC105375781
GH08H140152 0.9 ENCODE 10.6 -450.8 -450823 2.2 FOXA2 NFIB ARID4B RAD21 RARA YY1 FOS CREM NFYC REST KCNK9 C8orf17 GC08M140101 GC08P140241
GH08H139969 0.8 ENCODE 10.2 -268.3 -268259 4 TFAP4 FOXA2 SAP130 MLX MAX RAD21 RARA YY1 TEAD3 ZSCAN5C C8orf17 KCNK9 GC08P140000
GH08H140150 0.7 Ensembl ENCODE 11 -448.0 -448033 0.6 PKNOX1 ZIC2 SPI1 KCNK9 GC08M140101 GC08P140241
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KCNK9 on UCSC Golden Path with GeneCards custom track

Genomic Locations for KCNK9 Gene

Genomic Locations for KCNK9 Gene
102,231 bases
Minus strand

Genomic View for KCNK9 Gene

Genes around KCNK9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNK9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNK9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNK9 Gene

Proteins for KCNK9 Gene

  • Protein details for KCNK9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Potassium channel subfamily K member 9
    Protein Accession:
    Secondary Accessions:
    • Q2M290
    • Q540F2

    Protein attributes for KCNK9 Gene

    374 amino acids
    Molecular mass:
    42264 Da
    Quaternary structure:
    • Homodimer (Probable). Heterodimer with KCNK1.
    • Inhibited by phorbol 12-myristate 13-acetate (PMA). TASK-3 current is strongly decreased in the presence of an extracellular pH inferior to 7.0.
    • Overexpressed in a high proportion of breast cancers. May confer resistance to growth factor deprivation and hypoxia, thereby promoting tumor cell survival in poorly oxygenated areas of solid tumors.

    Three dimensional structures from OCA and Proteopedia for KCNK9 Gene

neXtProt entry for KCNK9 Gene

Post-translational modifications for KCNK9 Gene

  • Glycosylation at posLast=5353
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KCNK9 Gene

Domains & Families for KCNK9 Gene

Gene Families for KCNK9 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Predicted membrane proteins
  • Transporters
  • Voltage-gated ion channels

Suggested Antigen Peptide Sequences for KCNK9 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.
  • Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.
genes like me logo Genes that share domains with KCNK9: view

Function for KCNK9 Gene

Molecular function for KCNK9 Gene

UniProtKB/Swiss-Prot Function:
pH-dependent, voltage-insensitive, background potassium channel protein.

Phenotypes From GWAS Catalog for KCNK9 Gene

Gene Ontology (GO) - Molecular Function for KCNK9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005249 voltage-gated potassium channel activity IEA --
GO:0005267 potassium channel activity TAS --
GO:0022841 potassium ion leak channel activity IBA --
GO:0042803 protein homodimerization activity IEA --
GO:0046982 protein heterodimerization activity IEA --
genes like me logo Genes that share ontologies with KCNK9: view
genes like me logo Genes that share phenotypes with KCNK9: view

Human Phenotype Ontology for KCNK9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KCNK9 Gene

MGI Knock Outs for KCNK9:

miRNA for KCNK9 Gene

miRTarBase miRNAs that target KCNK9

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KCNK9 Gene

Localization for KCNK9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNK9 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

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 KCNK9 gene
Compartment Confidence
plasma membrane 5
extracellular 2
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for KCNK9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0008021 synaptic vesicle IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KCNK9: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KCNK9 Gene

Pathways & Interactions for KCNK9 Gene

genes like me logo Genes that share pathways with KCNK9: view

SIGNOR curated interactions for KCNK9 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for KCNK9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport NAS 11042359
GO:0030322 stabilization of membrane potential IBA --
GO:0071804 cellular potassium ion transport IEA --
genes like me logo Genes that share ontologies with KCNK9: view

Drugs & Compounds for KCNK9 Gene

(12) Drugs for KCNK9 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Halothane Approved, Vet_approved Pharma Activator, antagonist, Target, binder 2
Doxapram Approved, Vet_approved Pharma Target, inhibitor 7
Anandamide Pharma Antagonist, Pore Blocker 0
ruthenium red Pharma Channel blocker 0
Doxapram HCl Pharma 0

(4) Additional Compounds for KCNK9 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(2) Tocris Compounds for KCNK9 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

(1) ApexBio Compounds for KCNK9 Gene

Compound Action Cas Number
Doxapram HCl 7081-53-0
genes like me logo Genes that share compounds with KCNK9: view

Drug Products

Transcripts for KCNK9 Gene

Unigene Clusters for KCNK9 Gene

Potassium channel, subfamily K, member 9:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNK9 Gene

No ASD Table

Relevant External Links for KCNK9 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for KCNK9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KCNK9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNK9 Gene

This gene is overexpressed in Brain - Cerebellum (x18.8) and Brain - Cerebellar Hemisphere (x17.9).

Protein differential expression in normal tissues from HIPED for KCNK9 Gene

This gene is overexpressed in Liver (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KCNK9 Gene

Protein tissue co-expression partners for KCNK9 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KCNK9 Gene:


SOURCE GeneReport for Unigene cluster for KCNK9 Gene:


mRNA Expression by UniProt/SwissProt for KCNK9 Gene:

Tissue specificity: Mainly found in the cerebellum. Also found in adrenal gland, kidney and lung.

Evidence on tissue expression from TISSUES for KCNK9 Gene

  • Nervous system(4.6)
  • Adrenal gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNK9 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • face
  • forehead
  • head
  • lip
  • mouth
  • nose
  • pharynx
  • skull
  • esophagus
  • stomach
  • pelvis
  • hair
  • skin
genes like me logo Genes that share expression patterns with KCNK9: view

Orthologs for KCNK9 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNK9 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia KCNK9 33 34
  • 99.91 (n)
(Bos Taurus)
Mammalia KCNK9 33 34
  • 93.58 (n)
(Canis familiaris)
Mammalia KCNK9 33 34
  • 91.58 (n)
(Ornithorhynchus anatinus)
Mammalia KCNK9 34
  • 87 (a)
(Rattus norvegicus)
Mammalia Kcnk9 33
  • 74.82 (n)
(Mus musculus)
Mammalia Kcnk9 33 16 34
  • 73.73 (n)
(Monodelphis domestica)
Mammalia KCNK9 34
  • 62 (a)
(Gallus gallus)
Aves KCNK9 34
  • 88 (a)
LOC100859545 33
  • 83.42 (n)
(Anolis carolinensis)
Reptilia KCNK9 34
  • 85 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnk9 33
  • 79.68 (n)
Str.14039 33
(Danio rerio)
Actinopterygii LOC799704 33
  • 78.52 (n)
kcnk9 34
  • 62 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13601 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002466 33
  • 60.22 (n)
fruit fly
(Drosophila melanogaster)
Insecta Task7 33 34
  • 57.56 (n)
CG9637 35
  • 57 (a)
CG9361 35
  • 51 (a)
Task6 34
  • 42 (a)
(Caenorhabditis elegans)
Secernentea twk-23 35
  • 55 (a)
sup-9 34
  • 50 (a)
twk-4 35
  • 44 (a)
twk-20 34
  • 36 (a)
twk-46 34
  • 27 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 29 (a)
Species where no ortholog for KCNK9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 KCNK9 Gene

Gene Tree for KCNK9 (if available)
Gene Tree for KCNK9 (if available)

Paralogs for KCNK9 Gene

Paralogs for KCNK9 Gene

(3) SIMAP similar genes for KCNK9 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KCNK9: view

Variants for KCNK9 Gene

Sequence variations from dbSNP and Humsavar for KCNK9 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs121908332 Pathogenic, Birk-Barel mental retardation dysmorphism syndrome (BIBAS) [MIM:612292] 139,618,677(-) TCATC(A/G)GGGCC nc-transcript-variant, reference, missense
rs867543866 Likely pathogenic 139,618,991(+) TCATG(C/T)GCTCG nc-transcript-variant, reference, missense
rs79186831 Benign 139,612,555(+) GTAGA(-/G/GG)GCATT nc-transcript-variant, reference, utr-variant-3-prime, frameshift-variant
rs1000001468 -- 139,604,130(+) AGCCT(C/T)CCTGG intron-variant
rs1000086603 -- 139,644,667(+) CAGGA(G/T)CATGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KCNK9 Gene

Variant ID Type Subtype PubMed ID
nsv824745 CNV gain 20364138
nsv6425 CNV deletion 18451855
nsv6423 CNV deletion 18451855
nsv612544 CNV loss 21841781
nsv612543 CNV loss 21841781
nsv525709 CNV gain 19592680
nsv524756 CNV gain 19592680
nsv522721 CNV loss 19592680
nsv465942 CNV loss 19166990
nsv397727 CNV deletion 16902084
nsv397287 CNV deletion 16902084
nsv1137408 CNV deletion 24896259
nsv1075174 CNV deletion 25765185
esv2737719 CNV deletion 23290073
esv2737717 CNV deletion 23290073
esv2737716 CNV deletion 23290073
esv2737715 CNV deletion 23290073
esv2677546 CNV deletion 23128226
esv2661944 CNV deletion 23128226
esv2154233 CNV deletion 18987734
esv1422449 CNV deletion 17803354
esv1065914 CNV insertion 17803354
dgv12360n54 CNV loss 21841781
dgv1198n67 CNV gain 20364138

Variation tolerance for KCNK9 Gene

Residual Variation Intolerance Score: 12% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.21; 4.73% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNK9 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNK9 Gene

Disorders for KCNK9 Gene

MalaCards: The human disease database

(3) MalaCards diseases for KCNK9 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
birk-barel mental retardation dysmorphism syndrome
  • birk-barel syndrome
kcnk9 imprinting syndrome
  • birk-barel mental retardation dysmorphism syndrome
childhood absence epilepsy
  • absence seizure
- elite association - COSMIC cancer census association via MalaCards
Search KCNK9 in MalaCards View complete list of genes associated with diseases


  • Birk-Barel mental retardation dysmorphism syndrome (BIBAS) [MIM:612292]: A syndrome characterized by mental retardation, hypotonia, hyperactivity, and facial dysmorphism. {ECO:0000269 PubMed:18678320}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KCNK9

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with KCNK9: view

No data available for Genatlas for KCNK9 Gene

Publications for KCNK9 Gene

  1. KT3.2 and KT3.3, two novel human two-pore K(+) channels closely related to TASK-1. (PMID: 11431495) Vega-Saenz de Miera E … Rudy B (Journal of neurophysiology 2001) 3 4 22 60
  2. TASK-3, a novel tandem pore domain acid-sensitive K+ channel. An extracellular histiding as pH sensor. (PMID: 10747866) Rajan S … Derst C (The Journal of biological chemistry 2000) 3 4 22 60
  3. Cloning, localisation and functional expression of a novel human, cerebellum specific, two pore domain potassium channel. (PMID: 11042359) Chapman CG … Gloger IS (Brain research. Molecular brain research 2000) 3 4 22 60
  4. TASK1 and TASK3 potassium channels: determinants of aldosterone secretion and adrenocortical zonation. (PMID: 20049674) Bandulik S … Warth R (Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2010) 3 22 60
  5. 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 45 60

Products for KCNK9 Gene

Sources for KCNK9 Gene

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