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FLASH GENE
Symbol EMILIN2 contributors: - updated : 26-08-2005
HGNC name elastin microfibril interfacer 2
HGNC id 19881
Location 18p11.3      Physical location : 2.847.027 - 2.914.088
Synonym name
  • elastin microfibril interfase located protein
  • extracellular glycoprotein EMILIN2 precursor
    • Synonym symbol(s) FOAP-10, EMILIN-2, FLJ33200
    DNA
    TYPE functioning gene
    STRUCTURE 40.00 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   lowly
     vesselsaorta  lowly
    Digestiveintestinelarge intestinecaecum lowly
    Hearing/Equilibriumearinnercochlea  
    Reproductivemale systemprostate  lowly
    Respiratoryrespiratory tractlarynx  highly
    Urinarykidney    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text highly in heart, lowly in brain, spleen, thymus and placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal cysteine-rich domain (EMI)
  • C1q domain at the C terminus
  • a short collagenous stalk
  • eight potential N glycosylation sites
  • a prolinr rich sequence
    • conjugated GlycoP
    mono polymer homomer , trimer
    isoforms Precursor containing a putative polyadenylation site in the 3'UTR, a secretory signal peptide, a consensus signal cleavage site leading to a mature protein made of 1023 aa and a 112 kDa
    HOMOLOGY
    intraspecies homolog to murine Emilin2
    Homologene
    FAMILY EMILIN family, EMI domain containing superfamily
    CATEGORY adhesion , structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text cochlear basilar membrane component
    basic FUNCTION
  • may be responsible for anchoring smooth muscle cells to elastic fibers
  • may be involved not only in the formation of elastic fibers but also in the processes that regulate vessel assembly
    • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component EMILIN/multimerin/EMILIN 2
    INTERACTION
    DNA
    RNA
    small molecule
    protein interacts with EMILIN 1 via its C1q domain
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS