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Aliases for KCNK3 Gene

Aliases for KCNK3 Gene

  • Potassium Two Pore Domain Channel Subfamily K Member 3 2 3 5
  • Potassium Channel, Two Pore Domain Subfamily K, Member 3 2 3
  • Acid-Sensitive Potassium Channel Protein TASK-1 3 4
  • TWIK-Related Acid-Sensitive K(+) Channel 1 3 4
  • Two Pore Potassium Channel KT3.1 3 4
  • Two Pore K(+) Channel KT3.1 3 4
  • TASK 3 4
  • Potassium Inwardly-Rectifying Channel, Subfamily K, Member 3 3
  • Acid-Sensitive Potassium Channel Protein TASK 3
  • Potassium Channel, Subfamily K, Member 3 2
  • TWIK-Related Acid-Sensitive K+ Channel 3
  • Potassium Channel Subfamily K Member 3 3
  • Two P Domain Potassium Channel 3
  • Cardiac Potassium Channel 3
  • K2p3.1 3
  • TASK-1 3
  • TBAK1 3
  • TASK1 4
  • OAT1 3
  • PPH4 3

External Ids for KCNK3 Gene

Previous GeneCards Identifiers for KCNK3 Gene

  • GC02P026836
  • GC02P027008
  • GC02P026890
  • GC02P026827
  • GC02P026654

Summaries for KCNK3 Gene

Entrez Gene Summary for KCNK3 Gene

  • This gene encodes a member of the superfamily of potassium channel proteins that contain two pore-forming P domains. The encoded protein is an outwardly rectifying channel that is sensitive to changes in extracellular pH and is inhibited by extracellular acidification. Also referred to as an acid-sensitive potassium channel, it is activated by the anesthetics halothane and isoflurane. Although three transcripts are detected in northern blots, there is currently no sequence available to confirm transcript variants for this gene. [provided by RefSeq, Aug 2008]

GeneCards Summary for KCNK3 Gene

KCNK3 (Potassium Two Pore Domain Channel Subfamily K Member 3) is a Protein Coding gene. Diseases associated with KCNK3 include Pulmonary Hypertension, Primary, 4 and Pulmonary Hypertension, Primary, 1. Among its related pathways are Cardiac conduction and Aldosterone synthesis and secretion. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein C-terminus binding. An important paralog of this gene is KCNK9.

UniProtKB/Swiss-Prot for KCNK3 Gene

  • pH-dependent, voltage-insensitive, background potassium channel protein. Rectification direction results from potassium ion concentration on either side of the membrane. Acts as an outward rectifier when external potassium concentration is low. When external potassium concentration is high, current is inward.

Tocris Summary for KCNK3 Gene

Gene Wiki entry for KCNK3 Gene

Additional gene information for KCNK3 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNK3 Gene

Genomics for KCNK3 Gene

GeneHancer (GH) Regulatory Elements for KCNK3 Gene

Promoters and enhancers for KCNK3 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
GH02I026691 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 550.8 -0.5 -471 1.6 MXI1 KLF1 MAZ SP3 ZBTB6 REST ZNF335 POLR2A VEZF1 PRDM1 KCNK3 CIB4 RPL37P11
GH02I026717 Enhancer 1.9 VISTA FANTOM5 Ensembl ENCODE dbSUPER 12.6 +29.6 29565 10.1 HDGF FOXA2 MLX SIN3A DMAP1 YY1 ZNF766 FOS SP5 REST CENPA EIF2B4 GPN1 GTF3C2 CAD KCNK3 SLC35F6 GTF3C2-AS1 NRBP1 C2orf70
GH02I026754 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.3 +64.7 64719 5.8 PKNOX1 CLOCK FOXA2 ARNT NEUROD1 SIN3A YY1 SLC30A9 POLR2B ZNF766 EIF2B4 GPN1 CAD LOC105374363 GTF3C2 NRBP1 TMEM214 KCNK3 KHK SUPT7L
GH02I026734 Enhancer 1.3 Ensembl ENCODE dbSUPER 12.1 +43.1 43124 1.7 ELF3 FOXA2 MLX RAD21 RARA YY1 TCF12 SLC30A9 RCOR1 FOS KCNK3 DPYSL5 MAPRE3 SLC35F6 GC02P026705
GH02I026562 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 10.4 -129.9 -129874 1.3 ELF3 FOXA2 ARID4B SIN3A BMI1 RAD21 ZNF48 YY1 RCOR1 SP5 C2orf70 KCNK3 GC02P026627
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KCNK3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KCNK3 gene promoter:

Genomic Locations for KCNK3 Gene

Genomic Locations for KCNK3 Gene
chr2:26,692,690-26,733,420
(GRCh38/hg38)
Size:
40,731 bases
Orientation:
Plus strand
chr2:26,915,581-26,956,288
(GRCh37/hg19)

Genomic View for KCNK3 Gene

Genes around KCNK3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNK3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNK3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNK3 Gene

Proteins for KCNK3 Gene

  • Protein details for KCNK3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14649-KCNK3_HUMAN
    Recommended name:
    Potassium channel subfamily K member 3
    Protein Accession:
    O14649
    Secondary Accessions:
    • Q53SU2

    Protein attributes for KCNK3 Gene

    Size:
    394 amino acids
    Molecular mass:
    43518 Da
    Quaternary structure:
    • Homodimer (Probable). Heterodimer with KCNK1.
    Miscellaneous:
    • Inhibited by external acidification. Activated by halothane and isoflurane.

neXtProt entry for KCNK3 Gene

Post-translational modifications for KCNK3 Gene

  • Glycosylation at isoforms=53
  • Modification sites at PhosphoSitePlus

Other Protein References for KCNK3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNK3 Gene

Domains & Families for KCNK3 Gene

Gene Families for KCNK3 Gene

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

Suggested Antigen Peptide Sequences for KCNK3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O14649

UniProtKB/Swiss-Prot:

KCNK3_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 KCNK3: view

Function for KCNK3 Gene

Molecular function for KCNK3 Gene

GENATLAS Biochemistry:
potassium non voltage-gated channel inwardly rectifying,subfamily K,member 3
UniProtKB/Swiss-Prot Function:
pH-dependent, voltage-insensitive, background potassium channel protein. Rectification direction results from potassium ion concentration on either side of the membrane. Acts as an outward rectifier when external potassium concentration is low. When external potassium concentration is high, current is inward.

Phenotypes From GWAS Catalog for KCNK3 Gene

Gene Ontology (GO) - Molecular Function for KCNK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IMP 12198146
GO:0005252 open rectifier potassium channel activity IEA --
GO:0005267 potassium channel activity TAS --
GO:0008022 protein C-terminus binding IEA --
GO:0008083 growth factor activity IEA --
genes like me logo Genes that share ontologies with KCNK3: view
genes like me logo Genes that share phenotypes with KCNK3: view

Human Phenotype Ontology for KCNK3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KCNK3 Gene

MGI Knock Outs for KCNK3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KCNK3 Gene

Localization for KCNK3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNK3 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 KCNK3 gene
Compartment Confidence
plasma membrane 5
extracellular 3
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for KCNK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 9312005
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KCNK3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KCNK3 Gene

Pathways & Interactions for KCNK3 Gene

genes like me logo Genes that share pathways with KCNK3: view

SIGNOR curated interactions for KCNK3 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for KCNK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport TAS 9312005
GO:0007268 chemical synaptic transmission TAS 9312005
GO:0007420 brain development IEA --
genes like me logo Genes that share ontologies with KCNK3: view

Drugs & Compounds for KCNK3 Gene

(13) Drugs for KCNK3 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, and Novoseek

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

(4) Additional Compounds for KCNK3 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
trifluoroacetic acid
  • Acide trifluoroacetique
  • CF3COOH
  • Kyselina trifluoroctova
  • Perfluoroacetic acid
  • Trifluoracetic acid
76-05-1

(2) Tocris Compounds for KCNK3 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 KCNK3 Gene

Compound Action Cas Number
Doxapram HCl 7081-53-0
genes like me logo Genes that share compounds with KCNK3: view

Drug Products

Transcripts for KCNK3 Gene

mRNA/cDNA for KCNK3 Gene

Unigene Clusters for KCNK3 Gene

Potassium channel, subfamily K, member 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNK3 Gene

No ASD Table

Relevant External Links for KCNK3 Gene

GeneLoc Exon Structure for
KCNK3
ECgene alternative splicing isoforms for
KCNK3

Expression for KCNK3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KCNK3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNK3 Gene

This gene is overexpressed in Adrenal Gland (x22.0).

Protein differential expression in normal tissues from HIPED for KCNK3 Gene

This gene is overexpressed in Lung (53.0) and Adrenal (16.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KCNK3 Gene



Protein tissue co-expression partners for KCNK3 Gene

NURSA nuclear receptor signaling pathways regulating expression of KCNK3 Gene:

KCNK3

SOURCE GeneReport for Unigene cluster for KCNK3 Gene:

Hs.645288

mRNA Expression by UniProt/SwissProt for KCNK3 Gene:

O14649-KCNK3_HUMAN
Tissue specificity: Widespread expression in adult. Strongest expression in pancreas and placenta. Lower expression in brain, lung, prostate, heart, kidney, uterus, small intestine and colon.

Evidence on tissue expression from TISSUES for KCNK3 Gene

  • Heart(4.4)
  • Kidney(4.2)
  • Adrenal gland(2.7)
  • Nervous system(2.6)
  • Pancreas(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNK3 Gene

Germ Layers:
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • respiratory
Regions:
Head and neck:
  • ear
Thorax:
  • heart
  • lung
General:
  • blood
  • blood vessel
genes like me logo Genes that share expression patterns with KCNK3: view

Orthologs for KCNK3 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNK3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCNK3 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNK3 33 34
  • 95.85 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KCNK3 34
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KCNK3 33 34
  • 94.67 (n)
oppossum
(Monodelphis domestica)
Mammalia KCNK3 34
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnk3 33 16 34
  • 92.13 (n)
rat
(Rattus norvegicus)
Mammalia Kcnk3 33
  • 91.03 (n)
chicken
(Gallus gallus)
Aves KCNK3 34
  • 86 (a)
OneToOne
KCNK9 33
  • 83.16 (n)
lizard
(Anolis carolinensis)
Reptilia KCNK3 34
  • 86 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii kcnk3 33 34
  • 71.5 (n)
KCNK3 (2 of 2) 34
  • 68 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG9637 35
  • 54 (a)
CG9361 35
  • 47 (a)
Task7 34
  • 47 (a)
ManyToMany
Task6 34
  • 41 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea twk-23 35
  • 58 (a)
sup-9 34
  • 50 (a)
ManyToMany
twk-4 35
  • 44 (a)
twk-20 34
  • 37 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 30 (a)
OneToMany
Species where no ortholog for KCNK3 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for KCNK3 Gene

ENSEMBL:
Gene Tree for KCNK3 (if available)
TreeFam:
Gene Tree for KCNK3 (if available)

Paralogs for KCNK3 Gene

Paralogs for KCNK3 Gene

(2) SIMAP similar genes for KCNK3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with KCNK3: view

Variants for KCNK3 Gene

Sequence variations from dbSNP and Humsavar for KCNK3 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1085307438 pathogenic, Primary pulmonary hypertension 4 26,692,898(+) C/A coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs151228365 likely-benign, Primary pulmonary hypertension 4 26,727,806(+) C/A/G coding_sequence_variant, missense_variant
rs34292597 benign, Primary pulmonary hypertension 4 26,728,037(+) G/C/T coding_sequence_variant, synonymous_variant
rs398123039 pathogenic, Primary pulmonary hypertension 4, Primary pulmonary hypertension, Pulmonary hypertension, primary, 4 (PPH4) [MIM:615344] 26,727,991(+) G/A coding_sequence_variant, missense_variant
rs398123040 pathogenic, Primary pulmonary hypertension 4, Pulmonary hypertension, primary, 4 (PPH4) [MIM:615344] 26,727,672(+) G/A 5_prime_UTR_variant, coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for KCNK3 Gene

Variant ID Type Subtype PubMed ID
esv1018822 CNV insertion 17803354
esv26532 CNV loss 19812545
esv3310588 CNV novel sequence insertion 20981092
esv3370902 CNV insertion 20981092
esv989007 CNV insertion 20482838
nsv2652 CNV insertion 18451855
nsv2653 CNV insertion 18451855
nsv508833 CNV insertion 20534489
nsv522805 CNV loss 19592680
nsv523435 CNV loss 19592680

Variation tolerance for KCNK3 Gene

Residual Variation Intolerance Score: 50.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.41; 9.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KCNK3 Gene

Human Gene Mutation Database (HGMD)
KCNK3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNK3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNK3 Gene

Disorders for KCNK3 Gene

MalaCards: The human disease database

(7) MalaCards diseases for KCNK3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
pulmonary hypertension, primary, 4
  • pph4
pulmonary hypertension, primary, 1
  • pph1
pulmonary hypertension
  • primary pulmonary hypertension
heritable pulmonary arterial hypertension
  • familial pulmonary arterial hypertension
birk-barel mental retardation dysmorphism syndrome
  • birk-barel syndrome
- elite association - COSMIC cancer census association via MalaCards
Search KCNK3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KCNK3_HUMAN
  • Pulmonary hypertension, primary, 4 (PPH4) [MIM:615344]: A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs. {ECO:0000269 PubMed:23883380}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for KCNK3

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 KCNK3: view

No data available for Genatlas for KCNK3 Gene

Publications for KCNK3 Gene

  1. TASK-5, a novel member of the tandem pore K+ channel family. (PMID: 11680614) Ashmole I … Stanfield PR (Pflugers Archiv : European journal of physiology 2001) 3 4 22 58
  2. Mapping of human potassium channel genes TREK-1 (KCNK2) and TASK (KCNK3) to chromosomes 1q41 and 2p23. (PMID: 9721223) Lesage F … Lazdunski M (Genomics 1998) 2 3 22 58
  3. TASK, a human background K+ channel to sense external pH variations near physiological pH. (PMID: 9312005) Duprat F … Lazdunski M (The EMBO journal 1997) 2 3 4 58
  4. A novel channelopathy in pulmonary arterial hypertension. (PMID: 23883380) Ma L … Chung WK (The New England journal of medicine 2013) 3 4 58
  5. Altered neuronal expression of TASK1 and TASK3 potassium channels in rodent and human autoimmune CNS inflammation. (PMID: 18824070) Meuth SG … Wiendl H (Neuroscience letters 2008) 3 22 58

Products for KCNK3 Gene

Sources for KCNK3 Gene

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