ENSG00000166762


Homo sapiens
ionCATSPER2transportchanneltransmembraneactivitycalciumspermmembranemotilitycationproteinspermatogenesisactionpotentialcellsodiumciliumvoltage-gatedhearinglosssensorineuraldomainsperm-associatedmulticellularorganismdevelopmentneuronaldifferentiationflagellatedresponse

Features
Gene ID: ENSG00000166762
  
Biological name :CATSPER2
  
Synonyms : cation channel sperm associated 2 / CATSPER2 / Q96P56
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 15
Strand: -1
Band: q15.3
Gene start: 43628503
Gene end: 43668118
  
Corresponding Affymetrix probe sets: 1553323_a_at (Human Genome U133 Plus 2.0 Array)   1561155_at (Human Genome U133 Plus 2.0 Array)   1561405_s_at (Human Genome U133 Plus 2.0 Array)   217588_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000388242
Ensembl peptide - ENSP00000386595
Ensembl peptide - ENSP00000389746
Ensembl peptide - ENSP00000408240
Ensembl peptide - ENSP00000407694
Ensembl peptide - ENSP00000321463
Ensembl peptide - ENSP00000371180
Ensembl peptide - ENSP00000380088
NCBI entrez gene - 117155     See in Manteia.
OMIM - 607249
RefSeq - XM_017021904
RefSeq - NM_001282309
RefSeq - NM_001282310
RefSeq - NM_054020
RefSeq - NM_172095
RefSeq Peptide - NP_473361
RefSeq Peptide - NP_742093
RefSeq Peptide - NP_001269238
RefSeq Peptide - NP_001269239
swissprot - B8ZZQ9
swissprot - F8W9H2
swissprot - H7C2X6
swissprot - H7BZ89
swissprot - Q96P56
swissprot - A0A024QYX4
swissprot - E7EX46
Ensembl - ENSG00000166762
  
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
 Catsper2ENSMUSG00000033486Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AC011330.3ENSG000002847725


Protein motifs (from Interpro)
Interpro ID Name
 IPR005821  Ion transport domain
 IPR028747  Cation channel sperm-associated protein 2


Gene Ontology (GO)
establishment of localizationanatomical structure developmentmulticellular organism reproductioncell communicationregulation of biological qualitysystem processmulticellular organismal signalingcellular developmental processlocalization of cellmovement of cell or subcellular componentresponse to endogenous stimulusresponse to chemicalcell recognitionestablishment of localizationanatomical structure developmentmulticellular organism reproductioncell communicationregulation of biological qualitysystem processmulticellular organismal signalingcellular developmental processlocalization of cellmovement of cell or subcellular componentresponse to endogenous stimulusresponse to chemicalcell recognitionestablishment of localizationanatomical structure developmentmulticellular organism reproductioncell communicationregulation of biological qualitysystem processmulticellular organismal signalingcellular developmental processlocalization of cellmovement of cell or subcellular componentresponse to endogenous stimulusresponse to chemicalcell recognitionestablishment of localizationanatomical structure developmentmulticellular organism reproductioncell communicationregulation of biological qualitysystem processmulticellular organismal signalingcellular developmental processlocalization of cellmovement of cell or subcellular componentresponse to endogenous stimulusresponse to chemicalcell recognitionestablishment of localizationanatomical structure developmentmulticellular organism reproductioncell communicationregulation of biological qualitysystem processmulticellular organismal signalingcellular developmental processlocalization of cellmovement of cell or subcellular componentresponse to endogenous stimulusresponse to chemicalcell recognitionestablishment of localizationanatomical structure developmentmulticellular organism reproductioncell communicationregulation of biological qualitysystem processmulticellular organismal signalingcellular developmental processlocalization of cellmovement of cell or subcellular componentresponse to endogenous stimulusresponse to chemicalcell recognitionestablishment of localizationanatomical structure developmentmulticellular organism reproductioncell communicationregulation of biological qualitysystem processmulticellular organismal signalingcellular developmental processlocalization of cellmovement of cell or subcellular componentresponse to endogenous stimulusresponse to chemicalcell recognitionestablishment of localizationanatomical structure developmentmulticellular organism reproductioncell communicationregulation of biological qualitysystem processmulticellular organismal signalingcellular developmental processlocalization of cellmovement of cell or subcellular componentresponse to endogenous stimulusresponse to chemicalcell recognitionestablishment of localizationanatomical structure developmentmulticellular organism reproductioncell communicationregulation of biological qualitysystem processmulticellular organismal signalingcellular developmental processlocalization of cellmovement of cell or subcellular componentresponse to endogenous stimulusresponse to chemicalcell recognitionestablishment of localizationanatomical structure developmentmulticellular organism reproductioncell communicationregulation of biological qualitysystem processmulticellular organismal signalingcellular developmental processlocalization of cellmovement of cell or subcellular componentresponse to endogenous stimulusresponse to chemicalcell recognitionestablishmestablishment of localizationanatomicalanatomical structure developmentmulticellumulticellular organism reproductioncell commucell communicationregulationregulation of biological qualitysystem prosystem processmulticellumulticellular organismal signalingcellular dcellular developmental processlocalizatilocalization of cellmovement omovement of cell or subcellular componentresponse tresponse to endogenous stimulusresponse tresponse to chemicalcell recogcell recognition
transmembrane transporter activityprotein bindingtransmembrane transporter activityprotein bindingtransmembrane transporter activityprotein bindingtransmembrane transporter activityprotein bindingtransmembrane transporter activityprotein bindingtransmembrane transporter activityprotein bindingtransmembrane transporter activityprotein bindingtransmembrane transporter activityprotein bindingtransmembrane transporter activityprotein bindingtransmembrane transporter activityprotein bindingtransmembrane transporter activitytransmembrane transporter activityprotein bindingprotein binding
cellmembraneorganelleprotein-containing complexcellmembraneorganelleprotein-containing complexcellmembraneorganelleprotein-containing complexcellmembraneorganelleprotein-containing complexcellmembraneorganelleprotein-containing complexcellmembraneorganelleprotein-containing complexcellmembraneorganelleprotein-containing complexcellmembraneorganelleprotein-containing complexcellmembraneorganelleprotein-containing complexcellmembraneorganelleprotein-containing complexcellcellmembranemembraneorganelleorganelleprotein-containing complexprotein-containing complex
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006816 calcium ion transport IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007283 spermatogenesis IEA
 biological_processGO:0019228 neuronal action potential IBA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0030317 flagellated sperm motility IEA
 biological_processGO:0032570 response to progesterone TAS
 biological_processGO:0034220 ion transmembrane transport IEA
 biological_processGO:0034765 regulation of ion transmembrane transport IEA
 biological_processGO:0035036 sperm-egg recognition TAS
 biological_processGO:0035725 sodium ion transmembrane transport IEA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0070588 calcium ion transmembrane transport IEA
 biological_processGO:0086010 membrane depolarization during action potential IBA
 cellular_componentGO:0005886 plasma membrane IBA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031514 motile cilium IEA
 cellular_componentGO:0036128 CatSper complex IEA
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0005216 ion channel activity IEA
 molecular_functionGO:0005227 calcium activated cation channel activity IEA
 molecular_functionGO:0005244 voltage-gated ion channel activity IEA
 molecular_functionGO:0005248 voltage-gated sodium channel activity IBA
 molecular_functionGO:0005262 calcium channel activity IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Sperm Motility And Taxes


Phenotype (from MGI, Zfin or HPO)
Autosomal recessive inheritanceGenitourinary abnormalityAbnormality of the earsAutosomal recessive inheritanceGenitourinary abnormalityAbnormality of the earsAutosomal recessive inheritanceGenitourinary abnormalityAbnormality of the earsAutosomal recessive inheritanceGenitourinary abnormalityAbnormality of the earsAutosomal recessive inheritanceGenitourinary abnormalityAbnormality of the earsAutosomal recessive inheritanceGenitourinary abnormalityAbnormality of the earsAutosomal recessive inheritanceGenitourinary abnormalityAbnormality of the earsAutosomal recessive inheritanceGenitourinary abnormalityAbnormality of the earsAutosomal recessive inheritanceGenitourinary abnormalityAbnormality of the earsAutosomal recessive inheritanceGenitourinary abnormalityAbnormality of the earsAutosomal recessive inheritanceAutosomal recessive inheritanceGenitourinary abnormalityGenitourinary abnormalityAbnormality of the earsAbnormality of the ears
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000027 Azoospermia 
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 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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 HP:0000798 Oligospermia 
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 HP:0003251 Male infertility 
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 HP:0008619 Hearing loss, sensorineural, bilateral 
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 HP:0008669 Impaired spermatogenesis 
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 HP:0012207 Reduced sperm motility "An abnormal reduction in the mobility of ejaculated sperm." [HPO:probinson]
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 HP:0012208 Nonmotile sperm "A lack of mobility of ejaculated sperm." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000133962 Q9H7T0 / CATSPERB / cation channel sperm associated auxiliary subunit beta  / complex
 ENSG00000099338 Q6ZRH7 / CATSPERG / cation channel sperm associated auxiliary subunit gamma  / complex
 ENSG00000152705 Q86XQ3 / CATSPER3 / cation channel sperm associated 3  / complex
 ENSG00000174898 Q86XM0 / CATSPERD / cation channel sperm associated auxiliary subunit delta  / complex
 ENSG00000175294 Q8NEC5 / CATSPER1 / cation channel sperm associated 1  / complex
 ENSG00000166762 Q96P56 / CATSPER2 / cation channel sperm associated 2  / complex
 ENSG00000188782 Q7RTX7 / CATSPER4 / cation channel sperm associated 4  / complex






 

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