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FLASH GENE
Symbol EMILIN2 contributors: - updated : 26-08-2005
HGNC name elastin microfibril interfacer 2
HGNC id 19881
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