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FLASH GENE
Symbol CPAMD8 contributors: mct - updated : 24-01-2017
HGNC name C3 and PZP-like, alpha-2-macroglobulin domain containing 8
HGNC id 23228
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivemale systemtestis    Homo sapiens
Visualeyeanterior segmentcornea   Homo sapiensFetal
 eyeanterior segmentiris   Homo sapiensFetal
 eyelens    Homo sapiensFetal
 eyeretina    Homo sapiensFetal
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticplasma   
Connectivebone   
cells
SystemCellPubmedSpeciesStageRna symbol
Visualganglion cell Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal signal peptide,
  • A2M-associated domains,
  • an RXXR processing site
  • a thioester motif
  • a C-terminal Kazal-like domain, a Kazal-type serine proteinase inhibitor/follistatin-like domain, and a RRRR conserved site at AAs 715–718, which are features of complement proteins
  • HOMOLOGY
    Homologene
    FAMILY
  • protease inhibitor I39 (alpha-2- macroglobulin) family
  • A2M/C3 (alpha-2-macroglobulin/complement 3) protein family,
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    basic FUNCTION
  • having endopeptidase inhibitor activity
  • functioning in innate immunity but in a localized manner
  • role for CPAMD8 in the developing anterior segment which, when mutated, might perturb the normal developmental pathway for the anterior segment structures
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ASMD6
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS