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    MFAP2 microfibril associated protein 2 [ Homo sapiens (human) ]

    Gene ID: 4237, updated on 9-Dec-2024

    Summary

    Official Symbol
    MFAP2provided by HGNC
    Official Full Name
    microfibril associated protein 2provided by HGNC
    Primary source
    HGNC:HGNC:7033
    See related
    Ensembl:ENSG00000117122 MIM:156790; AllianceGenome:HGNC:7033
    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
    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]
    Expression
    Broad expression in endometrium (RPKM 22.6), gall bladder (RPKM 22.5) and 16 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MFAP2 in Genome Data Viewer
    Location:
    1p36.13
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (16974502..16981583, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (16784929..16792008, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (17300997..17308078, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17221837-17222770 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17222771-17223703 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 271 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17230789-17231428 Neighboring gene Sharpr-MPRA regulatory region 252 Neighboring gene RNA, U1 small nuclear 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 337 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17247068-17247840 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17247841-17248612 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17248613-17249384 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17249385-17250156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17250340-17250950 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17252780-17253390 Neighboring gene ciliary rootlet coiled-coil, rootletin Neighboring gene ReSE screen-validated silencer GRCh37_chr1:17259505-17259699 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 338 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17298533-17299510 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17300945-17301752 Neighboring gene uncharacterized LOC105376806 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17304877-17305382 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17305383-17305890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17305891-17306396 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17319735-17320236 Neighboring gene ATPase cation transporting 13A2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 274 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 275 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 339 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:17342294-17342828 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17342829-17343364 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 276 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17356477-17356976 Neighboring gene succinate dehydrogenase complex iron sulfur subunit B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 277

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
    EBI GWAS Catalog
    Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    EBI GWAS Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef HIV-1 Nef immunocomplexes analyzed by mass spectrometry reveal that microfibrillar-associated protein 2 (MFAP2) is a Nef-binding protein in Jurkat cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ50901

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables extracellular matrix structural constituent RCA
    inferred from Reviewed Computational Analysis
    more info
    PubMed 
    enables fibrinogen binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables fibronectin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in embryonic eye morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in embryonic eye morphogenesis IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in platelet formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in post-embryonic eye morphogenesis IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in collagen-containing extracellular matrix HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in microfibril IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in microfibril IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    microfibrillar-associated protein 2
    Names
    microfibril-associated glycoprotein 1
    microfibrillar associated protein 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5967..12085
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_001128719.1

      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
      Conserved Domains (1) summary
      pfam05507
      Location:75150
      MAGP; Microfibril-associated glycoprotein (MAGP)
    2. NM_001135248.2NP_001128720.1  microfibrillar-associated protein 2 isoform b precursor

      See identical proteins and their annotated locations for NP_001128720.1

      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
      ENSP00000364684.3, ENST00000375534.7
      Conserved Domains (1) summary
      pfam05507
      Location:75150
      MAGP; Microfibril-associated glycoprotein (MAGP)
    3. NM_002403.4NP_002394.1  microfibrillar-associated protein 2 isoform a precursor

      See identical proteins and their annotated locations for NP_002394.1

      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)
      BC028033, DN996554
      Consensus CDS
      CCDS174.1
      UniProtKB/Swiss-Prot
      P55001, Q53X60, Q5JXY0
      Related
      ENSP00000364685.3, ENST00000375535.4
      Conserved Domains (1) summary
      pfam05507
      Location:4151
      MAGP; Microfibril-associated glycoprotein (MAGP)
    4. NM_017459.3NP_059453.1  microfibrillar-associated protein 2 isoform a precursor

      See identical proteins and their annotated locations for NP_059453.1

      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, Q53X60, Q5JXY0
      Conserved Domains (1) summary
      pfam05507
      Location:4151
      MAGP; Microfibril-associated glycoprotein (MAGP)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      16974502..16981583 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421027.1XP_047276983.1  microfibrillar-associated protein 2 isoform X1

      UniProtKB/Swiss-Prot
      P55001, Q53X60, Q5JXY0

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791756.1 Reference GRCh38.p14 PATCHES

      Range
      1389676..1396757 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332808.1XP_054188783.1  microfibrillar-associated protein 2 isoform X1

      UniProtKB/Swiss-Prot
      P55001, Q53X60, Q5JXY0

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      16784929..16792008 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336665.1XP_054192640.1  microfibrillar-associated protein 2 isoform X1

      UniProtKB/Swiss-Prot
      P55001, Q53X60, Q5JXY0