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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 mental retardation dysmorphism syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

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 Childhood Absence Epilepsy. Among its related pathways are Sweet Taste Signaling and Cardiac conduction. 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

No data available for 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
GH08F140098 1.3 FANTOM5 ENCODE 16.5 -395.9 -395908 1.8 ELF3 HDAC1 SIN3A DMAP1 ZNF48 RAD21 RARA GLIS2 ZNF143 MIXL1 KCNK9 TRAPPC9 PEG13 GC08P140091
GH08F140090 1.2 Ensembl ENCODE 10.8 -388.0 -388033 1.8 ELF3 PKNOX1 SIN3A ZSCAN9 RARA GATA4 CREM MIXL1 EGR2 SMARCA5 KCNK9 GC08P140091 PIR39979
GH08F140150 1.1 Ensembl ENCODE 11 -447.8 -447833 1.4 PKNOX1 SIN3A RAD21 CREM DEK ZNF263 ZNF654 ZEB2 REST KLF16 KCNK9 GC08M140101 GC08P140241
GH08F140118 1.1 Ensembl ENCODE 10.5 -416.1 -416133 1.2 SIN3A ZNF48 ZNF335 SLC30A9 ZNF207 ETV6 CREM SMAD5 JUNB SREBF1 KCNK9 GC08M140101 GC08P140241
GH08F140105 1.1 Ensembl ENCODE 10.3 -403.4 -403363 1.8 ELF3 HDGF SOX13 KLF1 PKNOX1 SAP130 ZNF493 KLF17 ZNF384 RARA C8orf17 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

Promoters for KCNK9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001906368 -132 401 MAZ CBX2 EZH2
ENSR00001906369 -1032 601 ZBTB10 CTCF MAZ SP3 ZIC2 ZFP69B ZFHX2 ZBTB48 ZNF692 GLIS1

Genomic Location for KCNK9 Gene

Chromosome:
8
Start:
139,600,838 bp from pter
End:
139,703,068 bp from pter
Size:
102,231 bases
Orientation:
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:
    Q9NPC2-KCNK9_HUMAN
    Recommended name:
    Potassium channel subfamily K member 9
    Protein Accession:
    Q9NPC2
    Secondary Accessions:
    • Q2M290
    • Q540F2

    Protein attributes for KCNK9 Gene

    Size:
    374 amino acids
    Molecular mass:
    42264 Da
    Quaternary structure:
    • Homodimer (Probable). Heterodimer with KCNK1.
    Miscellaneous:
    • 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 Asn 53
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KCNK9 Gene

Domains & Families for KCNK9 Gene

Gene Families for KCNK9 Gene

Suggested Antigen Peptide Sequences for KCNK9 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NPC2

UniProtKB/Swiss-Prot:

KCNK9_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 KCNK9: view

Function for KCNK9 Gene

Molecular function for KCNK9 Gene

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

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:

Animal Model Products

  • Taconic Biosciences Mouse Models for KCNK9

miRNA for KCNK9 Gene

miRTarBase miRNAs that target KCNK9

Inhibitory RNA Products

Flow Cytometry 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

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 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

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, Tocris, 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 Endogenous CB receptor agonist 0
ruthenium red Pharma Channel blocker 0
Doxapram HCl Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
PK-THPP
1332454-07-5
Spadin
1270083-24-3

(5) Tocris Compounds for KCNK9 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

(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

Transcripts for KCNK9 Gene

Unigene Clusters for KCNK9 Gene

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

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for KCNK9 Gene

GeneLoc Exon Structure for
KCNK9
ECgene alternative splicing isoforms for
KCNK9

Expression for KCNK9 Gene

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

KCNK9

SOURCE GeneReport for Unigene cluster for KCNK9 Gene:

Hs.493037

mRNA Expression by UniProt/SwissProt for KCNK9 Gene:

Q9NPC2-KCNK9_HUMAN
Tissue specificity: Mainly found in the cerebellum. Also found in adrenal gland, kidney and lung.
genes like me logo Genes that share expression patterns with KCNK9: view

Primer Products

Orthologs for KCNK9 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNK9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCNK9 34 35
  • 99.91 (n)
cow
(Bos Taurus)
Mammalia KCNK9 34 35
  • 93.58 (n)
dog
(Canis familiaris)
Mammalia KCNK9 34 35
  • 91.58 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KCNK9 35
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnk9 34
  • 74.82 (n)
mouse
(Mus musculus)
Mammalia Kcnk9 34 16 35
  • 73.73 (n)
oppossum
(Monodelphis domestica)
Mammalia KCNK9 35
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves KCNK9 35
  • 88 (a)
OneToOne
LOC100859545 34
  • 83.42 (n)
lizard
(Anolis carolinensis)
Reptilia KCNK9 35
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnk9 34
  • 79.68 (n)
Str.14039 34
zebrafish
(Danio rerio)
Actinopterygii LOC799704 34
  • 78.52 (n)
kcnk9 35
  • 62 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13601 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002466 34
  • 60.22 (n)
fruit fly
(Drosophila melanogaster)
Insecta Task7 34 35
  • 57.56 (n)
CG9637 36
  • 57 (a)
CG9361 36
  • 51 (a)
Task6 35
  • 42 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea twk-23 36
  • 55 (a)
sup-9 35
  • 50 (a)
ManyToMany
twk-4 36
  • 44 (a)
twk-20 35
  • 36 (a)
ManyToMany
twk-46 35
  • 27 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 29 (a)
OneToMany
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

ENSEMBL:
Gene Tree for KCNK9 (if available)
TreeFam:
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 Birk-Barel mental retardation dysmorphism syndrome (BIBAS) [MIM:612292], Pathogenic 139,618,677(-) TCATC(A/G)GGGCC nc-transcript-variant, reference, missense
rs10046614 -- 139,683,045(+) AGGGC(A/C)TCTAC intron-variant
rs10087061 -- 139,604,273(+) GCCCT(G/T)TGGGG intron-variant
rs10088495 -- 139,628,838(+) CTGCT(C/T)CATGT intron-variant
rs10091040 -- 139,670,203(+) ctctt(A/G)tacag 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)
KCNK9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNK9

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

Disorders for KCNK9 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
birk-barel mental retardation dysmorphism syndrome
  • birk-barel 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

UniProtKB/Swiss-Prot

KCNK9_HUMAN
  • 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)
KCNK9
Human Genome Epidemiology (HuGE) Navigator
KCNK9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNK9
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. (J. Neurophysiol. 2001) 3 4 22 64
  2. TASK-3, a novel tandem pore domain acid-sensitive K+ channel. An extracellular histidine as pH sensor. (PMID: 10747866) Rajan S. … Derst C. (J. Biol. Chem. 2000) 3 4 22 64
  3. Cloning, localisation and functional expression of a novel human, cerebellum specific, two pore domain potassium channel. (PMID: 11042359) Chapman C.G. … Gloger I.S. (Brain Res. Mol. Brain Res. 2000) 3 4 22 64
  4. TASK1 and TASK3 potassium channels: determinants of aldosterone secretion and adrenocortical zonation. (PMID: 20049674) Bandulik S. … Warth R. (Horm. Metab. Res. 2010) 3 22 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

Products for KCNK9 Gene

Sources for KCNK9 Gene

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