ENSG00000171303


Homo sapiens

Features
Gene ID: ENSG00000171303
  
Biological name :KCNK3
  
Synonyms : KCNK3 / O14649 / potassium two pore domain channel subfamily K member 3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: 1
Band: p23.3
Gene start: 26692690
Gene end: 26733420
  
Corresponding Affymetrix probe sets: 205952_at (Human Genome U133 Plus 2.0 Array)   228127_at (Human Genome U133 Plus 2.0 Array)   235108_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000306275
Ensembl peptide - ENSP00000483136
NCBI entrez gene - 3777     See in Manteia.
OMIM - 603220
RefSeq - NM_002246
RefSeq - XM_005264293
RefSeq Peptide - NP_002237
swissprot - B9EIJ4
swissprot - O14649
Ensembl - ENSG00000171303
  
Related genetic diseases (OMIM): 615344 - Pulmonary hypertension, primary, 4, 615344
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 kcnk3aENSDARG00000043466Danio rerio
 kcnk3bENSDARG00000052898Danio rerio
 KCNK3ENSGALG00000025971Gallus gallus
 Kcnk3ENSMUSG00000049265Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
KCNK9 / Q9NPC2 / potassium two pore domain channel subfamily K member 9ENSG0000016942759
KCNK15 / Q9H427 / potassium two pore domain channel subfamily K member 15ENSG0000012424945
KCNK10 / P57789 / potassium two pore domain channel subfamily K member 10ENSG0000010043324
KCNK4 / Q9NYG8 / potassium two pore domain channel subfamily K member 4ENSG0000018245022
KCNK2 / O95069 / potassium two pore domain channel subfamily K member 2ENSG0000008248221
KCNK16 / Q96T55 / potassium two pore domain channel subfamily K member 16ENSG0000009598121
KCNK1 / O00180 / potassium two pore domain channel subfamily K member 1ENSG0000013575021
KCNK5 / O95279 / potassium two pore domain channel subfamily K member 5ENSG0000016462621
KCNK6 / Q9Y257 / potassium two pore domain channel subfamily K member 6ENSG0000009933719
KCNK17 / Q96T54 / potassium two pore domain channel subfamily K member 17ENSG0000012478019
KCNK7 / Q9Y2U2 / potassium two pore domain channel subfamily K member 7ENSG0000017333816


Protein motifs (from Interpro)
Interpro ID Name
 IPR003092  Two pore domain potassium channel, TASK family
 IPR003280  Two pore domain potassium channel
 IPR005406  Potassium channel subfamily K member 3
 IPR013099  Potassium channel domain
 IPR022341  Insulin-like growth factor I


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006813 potassium ion transport TAS
 biological_processGO:0007268 chemical synaptic transmission TAS
 biological_processGO:0007420 brain development IEA
 biological_processGO:0010469 regulation of signaling receptor activity IEA
 biological_processGO:0030322 stabilization of membrane potential IBA
 biological_processGO:0034220 ion transmembrane transport IMP
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0051481 negative regulation of cytosolic calcium ion concentration IEA
 biological_processGO:0061337 cardiac conduction TAS
 biological_processGO:0071294 cellular response to zinc ion IEA
 biological_processGO:0071456 cellular response to hypoxia IEA
 biological_processGO:0071805 potassium ion transmembrane transport IEA
 biological_processGO:0090102 cochlea development IEA
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0005216 ion channel activity IMP
 molecular_functionGO:0005252 open rectifier potassium channel activity IEA
 molecular_functionGO:0005267 potassium channel activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008022 protein C-terminus binding IEA
 molecular_functionGO:0008083 growth factor activity IEA
 molecular_functionGO:0022841 potassium ion leak channel activity IDA
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0044548 S100 protein binding IPI
 molecular_functionGO:0046982 protein heterodimerization activity IEA


Pathways (from Reactome)
Pathway description
TWIK-releated acid-sensitive K+ channel (TASK)
Phase 4 - resting membrane potential


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0002092 Pulmonary hypertension 
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 HP:0003676 Progressive disorder 
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 HP:0003829 Incomplete penetrance 
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 HP:0005317 Increased pulmonary vascular resistance 
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 HP:0011675 Arrhythmia "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both." [DDD:dbrown, pmid:19063792]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000169427 KCNK9 / Q9NPC2 / potassium two pore domain channel subfamily K member 9  / complex
 ENSG00000171303 KCNK3 / O14649 / potassium two pore domain channel subfamily K member 3  / complex






 

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