Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol EMILIN2 contributors: mct - updated : 14-12-2022
HGNC name elastin microfibril interfacer 2
HGNC id 19881
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal cysteine-rich EMI domain,
  • a long segment with high probabilty for coiled-coil structure formation
  • a short collagenous stalk
  • eight potential N glycosylation sites
  • a C-terminal gC1q domain
  • conjugated GlycoP
    mono polymer homomer , trimer
    isoforms Precursor containing a putative polyadenylation site in the 3
    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
  • extracellular matrix glycoprotein
  • 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
  • could play a role in thrombosis as a constituent of the vessel wall and/or a component of the thrombus
  • down-modulates the Wnt signalling pathway and suppresses breast cancer cell growth and migration
  • role as a prothrombotic risk factor may arise from its effects on platelet aggregation and platelet mediated clot retraction
  • potential involvement of EMILIN1, EMILIN2 in fibrillin-related skin disorders
  • EMILIN1, EMILIN2, and EMILIN3 are microfibril-associated glycoproteins known to modulate cell behaviour, growth factor activity, and ECM assembly
  • role of EMILINs in dentinogenesis, pulp biology, and inflammation
  • EMILIN2 is an important onco-regulator exerting pleiotropic effects on the gastric cancer microenvironment
  • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component EMILIN/multimerin/EMILIN 2
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • head-to-tail interaction between C-terminal and N-terminal domains of EMILIN1 and/or EMILIN2 but also by tail-to-tail interaction between gC1q domains
  • EMILIN1 may attenuate the effects of EMILIN2 on platelet aggregation and thrombosis
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    impairs the frequency of hematopoietic stem/progenitor cells in bone marrow during aging
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • EMILIN2 might be a potential target for clinical diagnosis of ovarian cancer
  • Therapy target
    SystemTypeDisorderPubmed
    cancerreproductiveovary
    potential target for treatment of ovarian cancer
    ANIMAL & CELL MODELS