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FLASH GENE
Symbol MFAP2 contributors: mct - updated : 07-04-2014
HGNC name microfibrillar-associated protein 2
HGNC id 7033
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal half of the molecule contains sites for tyrosine sulfation and transglutaminase cross-linking as well as all of the tri- and tetrasaccharide O-linked sugars
    • stretch of 5 GIN residues
  • a C terminal matrix-binding domain that targets MFAP2 to the ECM, and a carboxyl half containing 13 cysteines, forming a limited region of similarity with MFAP5
    • conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY small microfibril-associated proteins family
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    intracellular,cytoplasm,cytoskeleton,intermed filament
    text associated with microfibrils in the extracellular matrix
    basic FUNCTION
  • microfibrillar associated glycoprotein 2, component of the elastin-associated microfibrils
  • small glycoprotein covalently bound to microfibrils by disulfide linkages and specifically located on the beads of the beaded-filament structure of the microfibrils
  • protein component of fibrillin-containing microfibrils where it partners with MFAP5 and other microfibril-associated proteins to define microfibril function
  • play a role in elastin fiber assembly
  • is a potential regulator of bone remodeling, and its absence results in osteopenia associated with an increase in osteoclast number
  • MFAP2 and MFAP5 have discrete functions in hematopoiesis
  • unlike MFAP2, MFAP5 has little or no role in normal bone homeostasis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • a ternary complex with BGN and ELN
  • component of microfibrils of the extracellular matrix
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with the 8-cysteine motif of fibrillin-2 encoded by exon 24 (may be altered interaction in congenital contractural arachnodactyly contributing to the severity)
  • binding distinct regions of FBN1
  • binds to tropoelastin and type VI collagen
  • MFAP2 and MFAP5 both have the ability to bind NOTCH1, JAG1, JAG2, and Delta1
  • its regulation of TGFB is protective against the effects of metabolic stress, and its absence predisposes to metabolic dysfunction
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to severe congenital contractural arachnodactyly
  • to obesity
    • Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • genetic deletion of extracellular Magp1 in mice results in an array of phenotypes, including a bleeding diathesis, obesity, and osteopenia
  • Mfap2-/- in mice results in adipocyte hypertrophy and predisposition to metabolic dysfunction