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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
    Physical map
    LOC390821 18 LOC390821 CETN1 18p11.32 centrin, EF-hand protein, 1 CLUL1 18p11.32 clusterin-like 1 (retinal) TYMS 18p11.32 thymidylate synthetase HSRTSBETA 18p11.32 rTS beta protein YES1 18p11.31-p11.22 v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1 ADCYAP1 18p11.31 adenylate cyclase activating polypeptide 1 (pituitary) LOC388456 18 hypothetical gene supported by BC039671 C18orf2 18p11 chromosome 18 open reading frame 2 LOC390822 18 similar to RIKEN cDNA 4921525H23 FLJ23017 HEC 18p11.31 similar to RIKEN cDNA 4921525H23 LOC388457 18 hypothetical gene supported by BC006008 KIAA0650 18p11.31 hypothetical gene supported by BC006008 EMILIN2 18p11.3 elastin microfibril interfacer 2 LPIN2 18p11.31 lipin 2 LOC390823 18 similar to 60S ribosomal protein L10 (QM protein) (Tumor suppressor QM) (Laminin receptor homolog) MYOM1 18p11.32-p11.31 myomesin 1 (skelemin) 185kDa MRCL3 18p11.31 myosin regulatory light chain MRCL3 MRLC2 18p11.31 myosin regulatory light chain MRLC2 LOC204777 18p11.31 similar to Immunoglobulin lambda-like polypeptide 1 precursor (Immunoglobulin-related 14.1 protein) (Immunoglobulin omega polypeptide) (Lambda 5) (CD179b antigen) TGIF 18p11.3 TGFB-induced factor (TALE family homeobox) LOC390824 18 similar to hypothetical protein BC007436 DLGAP1 18p11.3 discs, large (Drosophila) homolog-associated protein 1 MGC11082 18p11.31 hypothetical protein MGC11082 LOC390825 18 similar to Glyceraldehyde 3-phosphate dehydrogenase, liver (GAPDH) LOC388458 18 hypothetical gene supported by BC040718 LOC390826 18 similar to peptidyl-Pro cis trans isomerase LOC390827 18 similar to hypothetical protein BC007436
    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