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FLASH GENE
Symbol TMEM237 contributors: mct - updated : 14-12-2011
HGNC name transmembrane protein 237
HGNC id 14432
Corresponding disease
JBTS14 Joubert syndrome 14
Location 2q33      Physical location : -
Synonym name
  • amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4
  • Synonym symbol(s) FLJ33282, ALS2CR4, JBTS14
    DNA
    TYPE functioning gene
    STRUCTURE 23.32 kb     13 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 5399 - 408 - 2001 11586298
    13 - 5335 - 400 - 2001 11586298
    EXPRESSION
    Rna function mmRNAs are abundant in the eye, hippocampus, cerebellum, and olfactory bulb
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain    
    Visualeyeretina    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualcone photoreceptor Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    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
  • 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