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FLASH GENE
Symbol CATSPER2 contributors: - updated : 20-10-2006
HGNC name cation channel, sperm associated 2
HGNC id 18810
Corresponding disease
DIS deafness-infertility syndrome
Location 15q14      Physical location : 43.922.773 - 43.941.039
Synonym name putative ion channel protein CATSPER2
DNA
TYPE functioning gene
SPECIAL FEATURE arranged in tandem
text
  • being part of a tandem repeat on chromosome 15q14 (the second copy of this gene is thought to be a pseudogene)
  • STRUCTURE 18.00 kb     15 Exon(s)    2 Copie(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - splicing 1942 61.7 528 - Quill
  • 13 exons
  • using an alternate in-frame splice site in the coding region compared to variant 2
  • - splicing 1948 61.9 530 - Quill
  • 13 exons
  • - splicing 1678 23.3 199 - Quill
  • 5 exons
  • using an alternate splice site in the coding region compared to variant 2
  • EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousnerve   predominantly
    Reproductivemale systemtestis  specific
     male systemprostate  highly
    Visualeye   moderately
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text highly in umbilical cord
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a Ca2+ ion selective pore domain
  • a cellular localization
  • six transmembrane segments
  • HOMOLOGY
    interspecies homolog to murine Catsper2 (67.7pc)
    Homologene
    FAMILY
    CATEGORY regulatory , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    text localized in sperm flagellum
    basic FUNCTION
  • involved in sperm cell motility
  • expressed during the meiotic or postmeiotic stages of spermatogenesis
  • having required roles in male fertility
  • CELLULAR PROCESS cell cycle,division,meiosis
    cell migration & motility
    PHYSIOLOGICAL PROCESS reproduction/sex
    text
  • cation transport (voltage-gated ion channel)
  • spermatogenesis
  • PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DIS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    in asthenoteratozoospermia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Catsper2 -/- mice