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    MFAP2 microfibrillar-associated protein 2 [ Homo sapiens ]

    Gene ID: 4237, updated on 11-May-2012
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    Summary

    Official Symbol
    MFAP2provided by HGNC
    Official Full Name
    microfibrillar-associated protein 2provided by HGNC
    Primary source
    HGNC:7033
    Locus tag
    RP1-37C10.2
    See related
    Ensembl:ENSG00000117122; HPRD:01137; MIM:156790; Vega:OTTHUMG00000002290
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MAGP; MAGP1; MAGP-1; FLJ50901
    Summary
    Microfibrillar-associated protein 2 is a major antigen of elastin-associated microfibrils and a candidate for involvement in the etiology of inherited connective tissue diseases. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
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    Genomic context

    Location :
    1p36.1-p35
    Sequence :
    Chromosome: 1; NC_000001.10 (17300997..17308081, complement)
    See MFAP2 in Epigenomics, MapViewer

    Chromosome 1 - NC_000001.10Genomic Context describing neighboring genes Neighboring gene RNA, U1 small nuclear 2 Neighboring gene ciliary rootlet coiled-coil, rootletin Neighboring gene ATPase type 13A2 Neighboring gene succinate dehydrogenase complex, subunit B, iron sulfur (Ip)

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Comparative immunolocalization of the elastin fiber-associated proteins fibrillin-1, LTBP-2, and MAGP-1 with components of the collagenous and proteoglycan matrix of the fetal human intervertebral disc. Hayes AJ, et al. Spine (Phila Pa 1976), 2011 Oct 1. PMID 21540769.
    2. Hundreds of variants clustered in genomic loci and biological pathways affect human height. Lango Allen H, et al. Nature, 2010 Oct 14. PMID 20881960.
    3. Exploring functional candidate genes for genetic association in german patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma. Krumbiegel M, et al. Invest Ophthalmol Vis Sci, 2009 Jun. PMID 19182256.
    4. The intracellular form of human MAGP1 elicits a complex and specific transcriptional response. Segade F, et al. Int J Biochem Cell Biol, 2007. PMID 17692555.
    5. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414.

    See all (22) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Demonstrate specific immunolocalization of fibrillin-1, MAGP-1, and LTBP-1 with elastin in the outer annulus fibrosus of the fetal human intravertebral disc.
      Title: Comparative immunolocalization of the elastin fiber-associated proteins fibrillin-1, LTBP-2, and MAGP-1 with components of the collagenous and proteoglycan matrix of the fetal human intervertebral disc.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Exploring functional candidate genes for genetic association in german patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma.
    3. Study suggests a dual role for MAGP1, with extracellular MAGP1A involved in ECM function, and intracellular MAGP1B modulating the expression of genes that function in cell adhesion, migration and control of ECM deposition.
      Title: The intracellular form of human MAGP1 elicits a complex and specific transcriptional response.
    4. microfibrillar proteins MAGP-1 and MAGP-2 can function outside of their role in elastic fibers to activate a cellular signaling pathway
      Title: Microfibrillar proteins MAGP-1 and MAGP-2 induce Notch1 extracellular domain dissociation and receptor activation.
    5. These results demonstrate that microfibril-associated glycoprotein-1 is capable of cumulative binding to distinct regions on tropoelastin, with different apparent dissociation constants and different amounts of bound protein.
      Title: Microfibril-associated glycoprotein-1 binding to tropoelastin: multiple binding sites and the role of divalent cations.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Hundreds of variants clustered in genomic loci and biological pathways affect human height.

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P55001 P21810 BGN    HPRD  PubMed  
    P55001 Q01955 COL4A3    HPRD  PubMed  
    P55001 P15502 ELN    HPRD  PubMed  
    P55001 P35555 FBN1    HPRD  PubMed  
    P55001 P35556 FBN2    HPRD  PubMed  
    BioGRID:110395 BioGRID:107102 BGN    BioGRID  PubMed Reconstituted Complex 
    BioGRID:110395 BioGRID:107682 COL4A3    BioGRID  PubMed Reconstituted Complex 
    BioGRID:110395 BioGRID:108494 FBN1    BioGRID  PubMed Reconstituted Complex 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    fibrinogen binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    fibronectin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    platelet formation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    microfibril IEA
    Inferred from Electronic Annotation
    more info
    		  
    proteinaceous extracellular matrix IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    microfibrillar-associated protein 2
    Names
    microfibrillar-associated protein 2
    microfibril-associated glycoprotein 1
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029688.1 RefSeqGene

      Range
      5001..12085
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001135247.1 → NP_001128719.1  microfibrillar-associated protein 2 isoform b precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site and differs in the 5' UTR compared to variant 2. The resulting isoform (b) has the same N- and C-termini but is one aa shorter compared to isoform a. Variants 3 and 4 both encode isoform b.
      Source sequence(s)
      AK222751, AU280150, BC028033
      Consensus CDS
      CCDS44071.1
      UniProtKB/Swiss-Prot
      P55001
      Related
      ENSP00000364684, OTTHUMP00000002398, ENST00000375534, OTTHUMT00000006611
      Conserved Domains (1) summary
      pfam05507
      Location:16 – 150
      Blast Score: 405
      MAGP; Microfibril-associated glycoprotein (MAGP)

    2. NM_001135248.1 → NP_001128720.1  microfibrillar-associated protein 2 isoform b precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice site compared to variant 2. The resulting isoform (b) has the same N- and C-termini but is one aa shorter compared to isoform a. Variants 3 and 4 both encode isoform b.
      Source sequence(s)
      AK222751, BC015039, BC028033
      Consensus CDS
      CCDS44071.1
      UniProtKB/Swiss-Prot
      P55001
      Related
      ENSP00000417029, ENST00000438542
      Conserved Domains (1) summary
      pfam05507
      Location:16 – 150
      Blast Score: 405
      MAGP; Microfibril-associated glycoprotein (MAGP)

    3. NM_002403.3 → NP_002394.1  microfibrillar-associated protein 2 isoform a precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode isoform a.
      Source sequence(s)
      BC015039, BC028033, DN996554
      Consensus CDS
      CCDS174.1
      UniProtKB/Swiss-Prot
      P55001
      Related
      ENSP00000364685, OTTHUMP00000002397, ENST00000375535, OTTHUMT00000006609
      Conserved Domains (1) summary
      pfam05507
      Location:21 – 151
      Blast Score: 390
      MAGP; Microfibril-associated glycoprotein (MAGP)

    4. NM_017459.2 → NP_059453.1  microfibrillar-associated protein 2 isoform a precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 2.
      Source sequence(s)
      AK222751, AU280150, BC028033
      Consensus CDS
      CCDS174.1
      UniProtKB/Swiss-Prot
      P55001
      Conserved Domains (1) summary
      pfam05507
      Location:21 – 151
      Blast Score: 390
      MAGP; Microfibril-associated glycoprotein (MAGP)

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000001.10 Reference GRCh37.p5 Primary Assembly

      Range
      17300997..17308081, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000133.1 Alternate HuRef

      Range
      15545079..15552161, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AJ009948.1 None
    genomic AL049569.13 CAB96824.1
      CAI20368.1
    genomic AL049569.13 CAB96824.1
      CAI20368.1
    genomic CH471134.1 EAW94818.1
      EAW94819.1
      EAW94820.1
      EAW94821.1
      EAW94822.1
      EAW94823.1
    genomic U19719.1 None
    mRNA AK222751.1 BAD96471.1
    mRNA AK301655.1 BAH13532.1
    mRNA AU280150.1 None
    mRNA BC015039.1 AAH15039.1
    mRNA BC028033.1 None
    mRNA CR407678.1 CAG28606.1
    mRNA DN996554.1 None
    mRNA U19718.1 AAA79920.1
    other-genetic DQ895542.2 ABM86468.1
    other-genetic EU176204.1 ABW03655.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P55001.1 GenPept UniProtKB/Swiss-Prot:P55001
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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