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FLASH GENE
Symbol DERL2 contributors: mct - updated : 20-08-2013
HGNC name Der1-like domain family, member 2
HGNC id 17943
Location 17p13.2      Physical location : 5.377.612 - 5.389.494
Synonym name
  • CGI 101 protein
  • derlin-2
  • DERtrin-2
  • degradation in endoplasmic reticulum protein 2
  • Synonym symbol(s) CGI-101, F-LANa, F-LAN-1, FLAN1
    DNA
    TYPE functioning gene
    STRUCTURE 11.94 kb     7 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 1156 - 239 - -
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    Muscular    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to murine FLAN1
    Homologene
    FAMILY derlin family
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,endosome
    basic FUNCTION
  • may be involved in the degradation process of specific misfolded endoplasmic reticulum (ER) luminal proteins
  • putative proto-oncogene and has a direct role in oncogenic transformation
  • essential role for protein dislocation in chondrocytes
  • CELLULAR PROCESS cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • DERL2 and DERL3 provide the missing link between EDEM1 and VCP in the process of degrading misfolded glycoproteins
  • critical scaffolding function for HEY1, HEY2 that is required for forming an active retrotranslocation complex containing SYVN1, SEL1L, and DERL2
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in hepatocellular carcinoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS