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FLASH GENE
Symbol TMEM230 contributors: mct - updated : 08-11-2017
HGNC name transmembrane protein 230
HGNC id 15876
Location 20p13      Physical location : -
Synonym name
  • HSPC274 protein
  • hypothetical protein LOC29058
  • chromosome 20 open reading frame 30
  • UPF0414 transmembrane protein C20orf30
  • Synonym symbol(s) HSPC274, dJ1116H23.2.1, C20orf30, dJ1116H23.2.1
    DNA
    TYPE functioning gene
    STRUCTURE 44.60 kb     5 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 1574 19.8 183 - 2017 28115417
    5 - 1792 13 120 - 2017 28115417
    4 - 1468 13 120 - 2017 28115417
    4 - 1699 13 120 - 2017 28115417
    - - 1744 - 120 - 2017 28115417
    - - 1709 - 120 - 2017 28115417
    - - 1686 - 120 - 2017 28115417
    - - 1332 - 127 - 2017 28115417
    EXPRESSION
    Type ubiquitous
       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,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    basic FUNCTION
  • transmembrane protein of secretory/recycling vesicles, including synaptic vesicles in neurons
  • is required for RAB8A-mediated secretory vesicle trafficking and retromer trafficking
  • converging roles of two PD genes TMEM230 and LRRK2 on RAB8A function, suggesting that retromer and secretory dysfunction play an important role in Parkinson disease (PD) pathogenesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    specifically increased in neurons in AD patients
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS