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FLASH GENE
Symbol ITM2C contributors: mct - updated : 10-04-2012
HGNC name integral membrane protein 2C
HGNC id 6175
Location 2q37.1      Physical location : 231.729.620 - 231.743.962
Synonym name
  • E25 protein
  • integral membrane protein 3
  • Synonym symbol(s) E25, E25C, ITM3, BRI3, BRICD2C, NPD018, PSEC0047, hucep-14
    DNA
    TYPE functioning gene
    STRUCTURE 14.34 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence cytosine-phosphate-guanine/HTF
    Binding site   transcription factor
    text structure three Sp1, five AP-1, MZF1, deltaEF1, Nkx2.5,CREB binding sites
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 2123 30 267 - 2001 11290423
    5 - 2012 - 230 - 2001 11290423
    5 - 1982 - 220 - 2001 11290423
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainforebraincerebral cortex  
     brainforebraincerebral lobetemporal 
     brainbasal nucleicaudate nucleus highly
     braindiencephalonamygdala  
     braindiencephalonthalamus  
     braindiencephalonhypothalamus  
     brainbasal nucleiputamen  
     brainhindbraincerebellum  
     brainbasal nucleicorpus callosum  
     spinal cord    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text placenta, liver, spleen
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a signal anchor transmembrane domain
  • N-glycosylation site
  • a BRICHOS domain
  • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to murine Itm2c
    homolog to rattus Rn.8450
    homolog to Xenopus Xl.18806
    Homologene
    FAMILY ITM2 family
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,lysosome
    text type II membrane protein
    basic FUNCTION
  • inhibits the various processing of APP by blocking the access of alpha- and beta-secretases to APP
  • unlike ITM2B, ITM2C is a poor gamma-cleavage inhibitor
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • BACE1 and BRI3 co-localize and interact with each other via the cytosolic tail of BACE1
  • interacts with APP and serves as an endogenous negative regulator of Abeta production
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS