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FLASH GENE
Symbol TCTN2 contributors: mct - updated : 11-01-2012
HGNC name tectonic family member 2
HGNC id 25774
Corresponding disease
JBTS24 Joubert syndrome 24
MKS8 Meckel syndrome, type 8
Location 12q24.31      Physical location : 124.155.659 - 124.192.947
Synonym name
  • tectonic-2
  • Synonym symbol(s) C12orf38, MKS8, TECT2
    DNA
    TYPE functioning gene
    STRUCTURE 37.29 kb     18 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    18 - 2934 - 697 - 2006 16357211
    18 - 2931 - 696 - 2006 16357211
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text
  • highly expressed in embryonic brain tissues but below the limit of detection in the kidney
  • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    intraspecies paralog to Tectonic 1
    Homologene
    FAMILY Tectonic family proteins
    CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     plasma membrane
    text type I membrane protein
    basic FUNCTION
  • participates in Hedgehog-mediated patterning of the neural tube
  • important for Hh signaling
  • regulates Hh Signaling and ciliogenesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MKS8 , JBTS24
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Tctn2-/- embryos exhibit microphthalmia, cleft palate, and polydactyly, consistent with altered Hedgehog signaling