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FLASH GENE
Symbol TRAPPC2 contributors: mct/npt - updated : 31-01-2017
HGNC name trafficking protein particle complex 2
HGNC id 23068
Corresponding disease
SEDL spondyloepiphyseal dysplasia, late
Location Xp22.2      Physical location : 13.730.360 - 13.752.754
Synonym name
  • sedlin
  • spondyloepiphyseal dysplasia, late
  • MBP-1-interacting protein 2A
  • Synonym symbol(s) SEDT, SEDL, TRS20, MIP-2A, ZNF547L, hYP38334, MIP2A, SEDTP1
    DNA
    TYPE functioning gene
    SPECIAL FEATURE opposite orientation, escaping inactivation, tail to tail
    text tail to tail and distal to CXorf5
    STRUCTURE 22.38 kb     5 Exon(s)
    motif repetitive sequence   ALU
    text structure
  • four alu sequences in the 3' utr
  • non-canonical splice-site
  • MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    text two transcript variants encoding the same protein
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 splicing 2857 16 140 - 2001 11595175
    5 splicing 2715 16 140 - 2001 11595175
  • differing in the 5' UTR compared to variant 1
  • 4 - 1600 - 90 - 2001 11595175
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   moderately
     vessel   moderately
    Digestiveliver    
    Lymphoid/Immunelymph node   moderately
     thymus   highly
    Reproductivefemale systemuteruscervix highly
    Urinarykidney   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connective    
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
     digestive
    cell lineage lymphoblasts
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text cartilage, pancreas
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • seven SEDLP
  • HOMOLOGY
    interspecies homolog to murine Trappc2 (97.1 pc)
    Homologene
    FAMILY
  • TRAPP small subunits family
  • sedlin subfamily
  • CATEGORY regulatory , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    text
  • perinuclear structure partly overlapping with the intermediate ER-Golgi compartment (ERGIC)
  • be present in both soluble
  • cytoplasmic fraction and in the membrane fraction (Choi 2009)
    basic FUNCTION
  • playing a putative role in endoplamsic reticulum (ER) to Golgi vesicular transport
  • preventing MBP1-mediated transcriptional repression
  • antagonizing MBP1-mediated cell death
  • nucleus-localized TRAPPC2 may play a role in regulation of transcriptional activities of the MRG family of transcription factors via binding to MRFAP1
  • joint action of MIA3 and TRAPPC2 sustained the ER export of Procollagen (PC), and its derangement may explain the defective chondrogenesis underlying SEDL
  • CELLULAR PROCESS cell life, antiapoptosis
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development , cellular trafficking transport , ossification
    text skeletal development
    PATHWAY
    metabolism
    signaling
    a component
  • part of the multisubunit TRAPP (transport protein particle) complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • TRAPPC2 is physically associated with protein associated with MRG 14 kDa (MRFAP1), a nuclear protein that interacts with the transcription factor MORF4L1
  • interaction with the transcription factors ENO1, PITX1 and SF1
  • associates with the RAB8A N-terminal domain and its subunits colocalize with centrosomal RAB8A and are required for RAB8A preciliary targeting and ciliogenesis
  • MIA3 recruited TRAPPC2, a TRAPP component and TRAPPC2 was required for the ER export of Procollagen (PC)
  • bound and promoted efficient cycling of SAR1A, a guanosine triphosphatase that can constrict membranes, and thus allowed nascent carriers to grow and incorporate PC prefibrils
  • interact with HIVEP1, a repressor of the MYC promoter (pMID: 24098805)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SEDL
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancer  
    simultaneous targeting of NCAPG2 and TRAPPC2 is a promising strategy for the development of antitumor drugs as a treatment for intractable tumours
    ANIMAL & CELL MODELS