ENSG00000166762


Homo sapiens

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)
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)
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
 ENSG00000175294 Q8NEC5 / CATSPER1 / cation channel sperm associated 1  / complex
 ENSG00000174898 Q86XM0 / CATSPERD / cation channel sperm associated auxiliary subunit delta  / complex
 ENSG00000188782 Q7RTX7 / CATSPER4 / cation channel sperm associated 4  / complex
 ENSG00000099338 Q6ZRH7 / CATSPERG / cation channel sperm associated auxiliary subunit gamma  / complex
 ENSG00000152705 Q86XQ3 / CATSPER3 / cation channel sperm associated 3  / complex
 ENSG00000133962 Q9H7T0 / CATSPERB / cation channel sperm associated auxiliary subunit beta  / complex
 ENSG00000166762 Q96P56 / CATSPER2 / cation channel sperm associated 2  / complex






 

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