KCNK9 Gene (Protein Coding)

Potassium Two Pore Domain Channel Subfamily K Member 9

GC08M139585
GIFtS:
48
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 as... See more...

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
  • Potassium Channel Subfamily K Member 9 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
  • 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 Syndrome and Kcnk9 Imprinting Syndrome. Among its related pathways are Activation of cAMP-Dependent PKA and Transmission across Chemical Synapses. Gene Ontology (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 Summary 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 , Rfam classification and piRNA Summary for KCNK9 Gene

Genomics for KCNK9 Gene

GeneHancer (GH) Regulatory Elements for KCNK9 Gene

Promoters and enhancers for KCNK9 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
GH08J139705 Promoter/Enhancer 1.3 Ensembl ENCODE 750.6 -2.0 -1992 0.6 ZNF24 CTCF ELF1 RELA L3MBTL2 RAD21 SREBF1 MNT ZNF280D ZNF148 HSALNG0068982 KCNK9 ENSG00000259891 LOC105375777 HSALNG0068987
GH08J139703 Promoter 1.2 EPDnew Ensembl 750.6 +0.4 408 1.4 ZNF785 CTCF SP7 GLIS2 ZIC2 ZSCAN4 POLR2A ZNF692 EZH2 ZBTB48 LOC105375777 HSALNG0068982 KCNK9
GH08J139707 Promoter 0.8 Ensembl 750.6 -1.4 -1392 0.2 CTCF ZNF280D ZIC2 ZEB2 PATZ1 ZNF692 KAT7 EZH2 ZBTB48 ZBTB10 HSALNG0068982 KCNK9 LOC105375777 HSALNG0068987
GH08J139702 Enhancer 0.3 Ensembl 750.6 +1.8 1808 0.2 EZH2 GLIS1 LOC105375777 KCNK9 RF00994-1097
GH08J140456 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12.5 -754.6 -754641 4.9 ZNF785 ZNF24 ZBTB40 SP1 ZBTB6 FOXA1 RBPJ SMARCE1 POLR2A CTBP1 TRAPPC9 CHRAC1 AGO2 PTK2 KCNK9 ENSG00000259891 lnc-CHRAC1-1 RF00017-7343
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KCNK9 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KCNK9 gene promoter:
  • COMP1
  • CREB
  • deltaCREB
  • E47
  • GCNF
  • GCNF-1
  • GCNF-2
  • MyoD
  • NF-1
  • NF-1/L

Genomic Locations for KCNK9 Gene

Genomic Locations for KCNK9 Gene
chr8:139,600,838-139,704,109
(GRCh38/hg38)
Size:
103,272 bases
Orientation:
Minus strand
chr8:140,613,081-140,715,299
(GRCh37/hg19)
Size:
102,219 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 Structure • Gene Density

RefSeq DNA sequence for KCNK9 Gene

Proteins for KCNK9 Gene

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  • 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

Protein Expression for KCNK9 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for KCNK9 Gene

  • Glycosylation at Asn53
  • Modification sites at PhosphoSitePlus

Other Protein References for KCNK9 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNK9 Gene

Domains & Families for KCNK9 Gene

Gene Families for KCNK9 Gene

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

Protein Domains for KCNK9 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KCNK9 Gene

GenScript: Design optimal peptide antigens:
  • Two pore potassium channel KT3.2 (KCNK9_HUMAN)

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

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  2. CRISPR
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  6. Cell Line

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 IEA --
GO:0022841 potassium ion leak channel activity IBA 21873635
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

CRISPR Products

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

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 1
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 21873635
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

PathCards logo

SuperPathways for KCNK9 Gene

SuperPathway Contained pathways
1 Sweet Taste Signaling
Melatonin Signaling
.72
Sweet Taste Signaling
.72
Cellular Effects of Sildenafil
.46
Bitter Taste Signaling
.44
Sperm Motility
.37
2 Cardiac conduction
Cardiac conduction
.70
Muscle contraction
.70
Phase 4 - resting membrane potential
.01
Tandem pore domain potassium channels
.01
TWIK-releated acid-sensitive K+ channel (TASK)
.01
3 Activation of cAMP-Dependent PKA
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
PKA Signaling
.56
4 Neuropathic Pain-Signaling in Dorsal Horn Neurons
Aldosterone Signaling in Epithelial Cells
.47
Neuropathic Pain-Signaling in Dorsal Horn Neurons
.47
Cholera Infection
.40
5 Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics
Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics
.45
Nicotine Activity on Dopaminergic Neurons
.45
genes like me logo Genes that share pathways with KCNK9: view

Pathways by source for KCNK9 Gene

1 BioSystems pathway for KCNK9 Gene
1 KEGG pathway for KCNK9 Gene
13 Qiagen pathways for KCNK9 Gene
  • Activation of cAMP-Dependent PKA
  • Aldosterone Signaling in Epithelial Cells
  • Bitter Taste Signaling
  • cAMP Pathway
  • Cellular Effects of Sildenafil

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:0006811 ion transport IEA --
GO:0006813 potassium ion transport NAS 11042359
GO:0030322 stabilization of membrane potential IBA 21873635
GO:0071805 potassium ion transmembrane transport IBA 21873635
GO:1990573 potassium ion import across plasma membrane IEA --
genes like me logo Genes that share ontologies with KCNK9: view

Drugs & Compounds for KCNK9 Gene

Products:

  1. Drug

(11) 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 Inhibitor, Activator, Target, binder, antagonist 2
Doxapram Approved, Vet_approved Pharma Target, inhibitor 8
Anandamide Pharma Antagonist, Pore Blocker, Partial agonist, Agonist, Potentiation, Allosteric regulator, Full agonist, Inhibitor, Channel blocker 0
Ruthenium Red Pharma Channel blocker, Inhibitor, Inhibition, Antagonist, Pore Blocker Non-selective Ca2+ channel blocker (N- and P-type) 0
Doxapram HCl Pharma 0

(2) 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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for KCNK9 Gene

(1) REFSEQ mRNAs :
(17) Additional mRNA sequences :
(44) Selected AceView cDNA sequences:
(12) 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 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

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for KCNK9 Gene
mRNA expression by BioGPS for KCNK9 GenemRNA expression by GTEx 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 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.

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
Systems:
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • face
  • forehead
  • head
  • lip
  • mouth
  • nose
  • pharynx
  • skull
Thorax:
  • esophagus
Abdomen:
  • stomach
Pelvis:
  • pelvis
General:
  • 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
chimpanzee
(Pan troglodytes)
 Mammalia KCNK9 33 32
  • 99.91 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia KCNK9 33 32
  • 93.58 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia KCNK9 33 32
  • 91.58 (n)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia KCNK9 33
  • 87 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Kcnk9 32
  • 74.82 (n)
mouse
(Mus musculus)
 Mammalia Kcnk9 17 33 32
  • 73.73 (n)
oppossum
(Monodelphis domestica)
 Mammalia KCNK9 33
  • 62 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves KCNK9 33
  • 88 (a)
 OneToOne
LOC100859545 32
  • 83.42 (n)
lizard
(Anolis carolinensis)
 Reptilia KCNK9 33
  • 85 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia kcnk9 32
  • 79.68 (n)
Str.14039 32
zebrafish
(Danio rerio)
 Actinopterygii LOC799704 32
  • 78.52 (n)
kcnk9 33
  • 62 (a)
 OneToOne
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.13601 32
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP002466 32
  • 60.22 (n)
fruit fly
(Drosophila melanogaster)
 Insecta Task7 33 32
  • 57.56 (n)
 ManyToMany
CG9637 34
  • 57 (a)
CG9361 34
  • 51 (a)
Task6 33
  • 42 (a)
 ManyToMany
worm
(Caenorhabditis elegans)
 Secernentea twk-23 34
  • 55 (a)
sup-9 33
  • 50 (a)
 ManyToMany
twk-4 34
  • 44 (a)
twk-20 33
  • 36 (a)
 ManyToMany
twk-46 33
  • 27 (a)
 ManyToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for KCNK9: view image

Paralogs for KCNK9 Gene

Paralogs for KCNK9 Gene

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

  • KCNK9_HUMAN
genes like me logo Genes that share paralogs with KCNK9: view

Variants for KCNK9 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for KCNK9 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs121908332 pathogenic, Birk Barel mental retardation dysmorphism syndrome, not provided, Birk-Barel mental retardation dysmorphism syndrome (BIBAS) [MIM:612292] 139,618,677(-) C/G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1563758595 uncertain-significance, Birk Barel mental retardation dysmorphism syndrome 139,702,770(-) C/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs79186831 benign, Birk-Barel Intellectual Disability Dysmorphism Syndrome 139,612,556(-) G/GG/GGG 3_prime_UTR_variant, coding_sequence_variant, frameshift, genic_downstream_transcript_variant, non_coding_transcript_variant
rs867543866 likely-pathogenic, uncertain-significance, not provided, Birk Barel mental retardation dysmorphism syndrome 139,618,991(-) C/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1563717544 uncertain-significance, not provided 139,618,917(-) T/C coding_sequence_variant, missense_variant, non_coding_transcript_variant

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

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

Additional Variant Information for KCNK9 Gene

Human Gene Mutation Database (HGMD)
KCNK9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNK9

SNP Genotyping and Copy Number Assay Products

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

Disorders for KCNK9 Gene

MalaCards: The human disease database

(4) MalaCards diseases for KCNK9 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
birk-barel syndrome
  • birk-barel mental retardation dysmorphism syndrome
kcnk9 imprinting syndrome
  • birk-barel syndrome
childhood absence epilepsy
  • absence seizure
idiopathic central precocious puberty
- 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.

Additional Disease Information for KCNK9

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 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 23 56
  2. 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 23 56
  3. 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 23 56
  4. 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 43 56
  5. 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 23 56

ExternalLinks

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