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FLASH GENE
Symbol MFAP2 contributors: mct - updated : 07-04-2014
HGNC name microfibrillar-associated protein 2
HGNC id 7033
Location 1p36.13      Physical location : 17.300.999 - 17.308.081
Synonym name microfibril-associated glycoprotein 1
Synonym symbol(s) MAGP1, MAGP, MAGP-1
DNA
TYPE functioning gene
STRUCTURE 7.08 kb     9 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked Y status provisional
Physical map
HSPB7 1p36.23-p34.3 heat shock 27kDa protein family, member 7 (cardiovascular) CLCNKA 1p36 chloride channel Ka CLCNKB 1p36.1 chloride channel Kb FLJ36766 1p36.13 hypothetical protein FLJ36766 EPHA2 1p36.1 EphA2 FLJ33962 1p36.13 hypothetical protein FLJ33962 LOC343531 1p36.13 similar to oral cancer overexpressed 2; transmembrane protein 16A (eight membrane-spanning domains) MGC10731 1p36.13 hypothetical protein MGC10731 KIAA1332 1p36.23-p36.11 KIAA1332 protein DKFZp566C0424 1p36.13 putative MAPK activating protein PM20,PM21 LOC391008 1 similar to ribosomal protein L22 FLJ10420 1p36.13 hypothetical protein FLJ10420 KIAA1922 1p36.13 KIAA1922 protein LOC391009 1 hypothetical gene supported by AB007923 FLJ20719 1p31 hypothetical protein FLJ20719 LOC388597 1 LOC388597 MGC12760 1p36.13 hypothetical protein MGC12760 LOC388598 1 similar to ring finger protein 123 MSTP2 1p36.2 macrophage stimulating, pseudogene 2 EIF1AP1 1q42.3 eukaryotic translation initiation factor 1A pseudogene 1 LOC284729 1p36.13 hypothetical protein LOC284729 MSTP7 1p36.2 macrophage stimulating, pseudogene 7 LOC391010 1 similar to KIAA0454 protein LOC388599 1 LOC388599 CROCC 1pter-p36.11 ciliary rootlet coiled-coil, rootletin MFAP2 1p36.1 microfibrillar-associated protein 2 HSA9947 1p36 putative ATPase SDHB 1p36.1-p35 succinate dehydrogenase complex, subunit B, iron sulfur (Ip) PADI2 1p35.2-p35.1 peptidyl arginine deiminase, type II PADI1 1p36.13 peptidyl arginine deiminase, type I PADI3 1p36.13 peptidyl arginine deiminase, type III PADI4 1p36.13 peptidyl arginine deiminase, type IV LOC391011 1 similar to Peptidyl arginine deiminase, egg and embryo abundant TD-60 1p36.13 RCC1-like FLJ10521 1p36.13 hypothetical protein FLJ10521 LOC81569 1p36.2-p35 actin like protein
regionally located close to the FBN2 gene
RNA
TRANSCRIPTS type messenger
text two alternative 5'untranslated exons
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- - - - - - 2002 1179671
intracellularly expressed
9 - 1105 - 183 - 2002 1179671
9 - 1120 - 182 - 2002 1179671
9 - 1121 - 182 - 2002 1179671
9 - 1124 - 183 - 2002 1179671
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Nervousnervecranial nerve  highly
Skeletonaxialskullfacemaxilla 
 axial skeletonskullfacemandible 
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone  highly
cell lineage
cell lines
fluid/secretion
at STAGE
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