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FLASH GENE
Symbol TMEM237 contributors: mct - updated : 23-04-2020
HGNC name transmembrane protein 237
HGNC id 14432
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
CATEGORY transport carrier
SUBCELLULAR LOCALIZATION     plasma membrane
    intracellular
intracellular,cytoplasm,cytoskeleton,microtubule
text
  • localizes to the ciliary transition zone (TZ)
  • basic FUNCTION
  • role for TMEM237 in ciliary function, signaling, and development
  • may be involved in membrane transport between the photoreceptor inner and outer segments and may be a key component in maintaining the structural integrity of the outer segment
  • require RPGRIP1L/MKS5 for proper transition zone localization
  • important for ciliogenesis in mammalian cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with cytoskeletal proteins
  • interacts functionally with NPHP4, MKS2, MKSR1/B9D1, MKSR2/B9D2, and MKS5/RPGRIP1L at the transition zone
  • ZNF131 activity notably promotes expression of Joubert Syndrome ciliopathy genes, including KIF7, NPHP1, and TMEM237, as well as HAUS5, a component of Augmin/HAUS complex that facilitates microtubule nucleation along the mitotic spindle
  • TMEM237 is a putative interactor with SLC52A3, and the interaction has physiological/biological significance
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) JBTS14
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    results in failure of ciliogenesis and deregulation of both canonical and noncanonical/PCP Wnt signaling pathway
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS