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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
Corresponding disease
ASMD6 ocular anterior segment mesenchymal dysgenesis 6
Location 19p13.11      Physical location : 17.003.762 - 17.137.625
Synonym name
  • complement 3 and pregnancy zone protein-like, alpha2-macroglobulin domain-containing 8
  • alpha-2 macroglobulin family protein VIP
  • Synonym symbol(s) VIP, K-CAP, KIAA1283
    DNA
    TYPE functioning gene
    STRUCTURE 133.87 kb     42 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    42 - 5996 - 1932 . brain, kidney, heart, liver, testis, and small intestine . detected in the developing human lens and retina as early as week 9 of gestation, and expression was retained into the second trimester 2004 15177561
  • CPAMD8-1a
  • - splicing - - 1863 - 2016 27839872
  • uses an alternative acceptor site in intron 41, which gives rise to a different terminal exon 42 (denoted here as exon 42b), resulting in a shorter protein
  • 14 - - - 503 previously identified in human placenta tissue -
    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 715718, 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