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FLASH GENE
Symbol CEP41 contributors: mct - updated : 04-02-2012
HGNC name centrosomal protein 41kDa
HGNC id 12370
Corresponding disease
JBTS15 Joubert syndrome 15
Location 7q32.2      Physical location : -
Synonym name
  • testis specific, 14
    • Synonym symbol(s) DKFZp762H1311, TSGA14
    DNA
    TYPE functioning gene
    STRUCTURE 44.48 kb     11 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map cen - D7S530 - NRF1 - UBE2H - KIAA0265 - CPA2 - CPA4 - CPA5 - CPA1 - TSGA14 - MEST - MESTIT1 - COPG2IT1 - COPG2 - TSGA13 - D17S649 - qter
    Authors YHamada(2004)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 splicing 3526 - 373 - Yamada
  • TSGA14L
  • biallelically expressed
    • - splicing 3161 - 54 - Yamada
    3 exons ,biallelic expression in fetal brain and liver
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas    
    Nervousbrain    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymhoid/Immunelymphocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text eye
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,cytoplasm,cytoskeleton,intermed filament
    intracellular,nucleus
    text
  • localized to the basal body and primary cilia
    • basic FUNCTION unknown
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) JBTS15
    Susceptibility to autism spectrum disorders (ASD)
    Variant & Polymorphism SNP
  • variants enriched in families with autism spectrum disorders
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS