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

Gene ID: 4237, updated on 7-Apr-2024

Summary

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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
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Genomic context

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Location:
1p36.13
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (16974502..16981583, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (16784929..16792008, complement)
105.20220307 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Decreased Levels of Microfibril-Associated Glycoprotein (MAGP)-1 in Patients with Colon Cancer and Obesity Are Associated with Changes in Extracellular Matrix Remodelling. Gómez de Segura I, et al. Int J Mol Sci, 2021 Aug 6. PMID 34445187, Free PMC Article
  2. MFAP2 Promotes the Proliferation of Cancer Cells and Is Associated With a Poor Prognosis in Hepatocellular Carcinoma. Zhu X, et al. Technol Cancer Res Treat, 2020 Jan-Dec. PMID 33280519, Free PMC Article
  3. Identification of a matrix-binding domain in MAGP1 and MAGP2 and intracellular localization of alternative splice forms. Segade F, et al. J Biol Chem, 2002 Mar 29. PMID 11796718
  4. Expression of microfibril-associated glycoprotein-1 (MAGP-1) in human epidermal keratinocytes. Fujimoto N, et al. Arch Dermatol Res, 2000 Jan. PMID 10664011
  5. The major antigen of elastin-associated microfibrils is a 31-kDa glycoprotein. Gibson MA, et al. J Biol Chem, 1986 Aug 25. PMID 3015971

See all (44) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MFAP2 promotes the progression of oral squamous cell carcinoma by activating the Wnt/beta-catenin signaling pathway through autophagy.
    Title: MFAP2 promotes the progression of oral squamous cell carcinoma by activating the Wnt/β-catenin signaling pathway through autophagy.
  2. MFAP2 aggravates tumor progression through activating FOXM1/beta-catenin-mediated glycolysis in ovarian cancer.
    Title: MFAP2 aggravates tumor progression through activating FOXM1/β-catenin-mediated glycolysis in ovarian cancer.
  3. MFAP2 Promotes the Proliferation of Cancer Cells and Is Associated With a Poor Prognosis in Hepatocellular Carcinoma.
    Title: MFAP2 Promotes the Proliferation of Cancer Cells and Is Associated With a Poor Prognosis in Hepatocellular Carcinoma.
  4. Decreased Levels of Microfibril-Associated Glycoprotein (MAGP)-1 in Patients with Colon Cancer and Obesity Are Associated with Changes in Extracellular Matrix Remodelling.
    Title: Decreased Levels of Microfibril-Associated Glycoprotein (MAGP)-1 in Patients with Colon Cancer and Obesity Are Associated with Changes in Extracellular Matrix Remodelling.
  5. Genome-Scale Analysis Identified NID2, SPARC, and MFAP2 as Prognosis Markers of Overall Survival in Gastric Cancer.
    Title: Genome-Scale Analysis Identified NID2, SPARC, and MFAP2 as Prognosis Markers of Overall Survival in Gastric Cancer.
  6. Integrated profiling identifies SLC5A6 and MFAP2 as novel diagnostic and prognostic biomarkers in gastric cancer patients.
    Title: Integrated profiling identifies SLC5A6 and MFAP2 as novel diagnostic and prognostic biomarkers in gastric cancer patients.
  7. Data show that MAGP-1, component of the extracellular matrix interact with fibrillin and impart unique biological properties that influence microfibril function. Mutations in MAGP-1 have been linked to thoracic aneurysms and metabolic diseases and mice lacking either one have defects in multiple organ systems, reflecting the widespread distribution of microfibrils in vertebrate tissues. [review]
    Title: Microfibril-associated glycoproteins MAGP-1 and MAGP-2 in disease.
  8. Our characterization of alternative forms of MAGP2 present in the extracellular space not only enhances diversity of this ECM protein but also provides a previously unrecognized molecular mechanism for regulation of MAGP2 biological activity.
    Title: Identification of a functional proprotein convertase cleavage site in microfibril-associated glycoprotein 2.
  9. Decreased MFAP2 gene expression in the endometrium of patients with implantation failure after in vitro ertilization treatment.
    Title: NLF2 gene expression in the endometrium of patients with implantation failure after IVF treatment.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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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

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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

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

NCBI Reference Sequences (RefSeq)

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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_001135247.2 → NP_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:75 → 150
    MAGP; Microfibril-associated glycoprotein (MAGP)

  2. NM_001135248.2 → NP_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:75 → 150
    MAGP; Microfibril-associated glycoprotein (MAGP)

  3. NM_002403.4 → NP_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:4 → 151
    MAGP; Microfibril-associated glycoprotein (MAGP)

  4. NM_017459.3 → NP_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:4 → 151
    MAGP; Microfibril-associated glycoprotein (MAGP)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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_047421027.1 → XP_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_054332808.1 → XP_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_054336665.1 → XP_054192640.1  microfibrillar-associated protein 2 isoform X1

    UniProtKB/Swiss-Prot
    P55001, Q53X60, Q5JXY0
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P55001.1 GenPept UniProtKB/Swiss-Prot:P55001

Gene LinkOut

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