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FLASH GENE
Symbol TMEM216 contributors: mct - updated : 27-01-2010
HGNC name transmembrane protein 216
HGNC id 25018
Corresponding disease
JBTS2 Joubert syndrome 2
Location 11q12.2      Physical location : 61.159.831 - 61.166.335
Synonym symbol(s) MGC13379, HSPC244, CORS2, MKS2
DNA
TYPE functioning gene
STRUCTURE 6.49 kb     5 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
5 - 1287 9.8 87 - 2010 20512146
5 - 1306 - 148 - 2010 20512146
5 - 1297 - 145 - 2010 20512146
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two transmembrane domains
  • four hydrophobic putative transmembrane domains (TM1 to TM4), forming two extracellular loops and one intracellular loop
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY
    SUBCELLULAR LOCALIZATION     plasma membrane
    text localized to the base of primary cilia
    basic FUNCTION
  • modulates hyper-responsiveness of signaling pathways mediated by DVL1 and RHOA
  • roles for TMEM67 and TMEM216 in mediating planar cell polarity signaling through the RHOA pathway to cause actin cytoskeleton rearrangements
  • both TMEM138 and TMEM216 are required for ciliogenesis
  • might mark vesicles en route to the base of cilium, which is known to be crucial for ciliary assembly
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • formed a complex with Meckelin (TMEM67)
    • INTERACTION
    DNA
    RNA
    small molecule
    protein possible functional dependence on TMEM216 for trafficking TMEM138 and associated proteins
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) JBTS2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Tmem216 disruption results in Dvl1 phosphorylation and planar cell polarity–like phenotypes in zebrafish