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FLASH GENE
Symbol TMEM231 contributors: mct - updated : 26-07-2015
HGNC name transmembrane protein 231
HGNC id 37234
Corresponding disease
JBTS20 Joubert syndrome 20
MKS11 Meckel syndrome 11
Location 16q23.1      Physical location : 75.572.016 - 75.590.170
Synonym symbol(s) UNQ870/PRO1886, ALYE870, JBTS20, MKS11, PRO1886, FLJ22167
DNA
TYPE functioning gene
STRUCTURE 18.17 kb
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 - 2925 - 316 - -
6 - 3018 - 369 - -
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 motor/contractile
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
text
  • localise to the ciliary transition zone
  • localizes to the basal body before and independently of intraflagellar transport in a Septin 2 (SEPT2)-regulated fashion
  • basic FUNCTION
  • plays a key role in the cilia
  • ciliopathy gene
  • TMEM231 and B9D1 are essential for each other and other complex components such as MKS1 to localize to the transition zone
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • part of the B9 complex, which is required for a diffusion barrier between the cilia and plasma membranes that maintains the integrity of the cilia as a privileged membrane domain
  • forms a complex with B9 and CC2D2A
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) JBTS20 , MKS11
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS