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FLASH GENE
Symbol TCTN3 contributors: mct - updated : 25-08-2012
HGNC name tectonic family member 3
HGNC id 24519
Corresponding disease
JBTS18 Joubert syndrome 18
OFD4 Orofaciodigital syndrome 4
Location 10q24.1      Physical location : 97.423.153 - 97.453.900
Synonym symbol(s) TECT3, C10orf61
DNA
TYPE functioning gene
STRUCTURE 30.75 kb     10 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
10 - 2297 - 459 - 2012 22883145
14 - 2741 - 607 - 2012 22883145
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
CATEGORY structural protein
SUBCELLULAR LOCALIZATION     plasma membrane
basic FUNCTION
  • necessary for transduction of the sonic hedgehog (SHH) signaling pathway
  • important for GLI3 processing and function, suggesting a complementary rather than redundant function for TCTN proteins in mammals
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) OFD4 , JBTS18
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS