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Aliases for MFAP2 Gene

Aliases for MFAP2 Gene

  • Microfibrillar Associated Protein 2 2 3 5
  • Microfibril-Associated Glycoprotein 1 3 4
  • MAGP-1 3 4
  • MAGP1 3 4
  • MAGP 3 4
  • Microfibrillar-Associated Protein 2 3
  • MFAP-2 4

External Ids for MFAP2 Gene

Previous GeneCards Identifiers for MFAP2 Gene

  • GC01M017038
  • GC01M016341
  • GC01M016682
  • GC01M017046
  • GC01M017173
  • GC01M017300
  • GC01M015545

Summaries for MFAP2 Gene

Entrez Gene Summary for MFAP2 Gene

  • 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]

GeneCards Summary for MFAP2 Gene

MFAP2 (Microfibrillar Associated Protein 2) is a Protein Coding gene. Diseases associated with MFAP2 include Costello Syndrome. Among its related pathways are Elastic fibre formation and Notch signaling pathway (KEGG). GO annotations related to this gene include fibronectin binding and fibrinogen binding. An important paralog of this gene is MFAP5.

UniProtKB/Swiss-Prot for MFAP2 Gene

  • Component of the elastin-associated microfibrils.

Gene Wiki entry for MFAP2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MFAP2 Gene

Genomics for MFAP2 Gene

Regulatory Elements for MFAP2 Gene

Enhancers for MFAP2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F016902 1.7 FANTOM5 ENCODE 31.2 +76.6 76594 4.9 CREB3L1 ZFP64 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC ZFP41 MFAP2 ENSG00000224621 RPL22P3 EIF1AXP1 ZBTB17 RCC2 RSG1 NBPF1 FBXO42 LINC01772
GH01F017011 1 ENCODE 49.9 -31.0 -30955 2.4 ATF1 CREB3L1 ZFP64 ARID4B SIN3A ETS1 GLIS2 ZNF143 KLF7 FOS MFAP2 ENSG00000224621 ENSG00000227959 EPHA2 RPL22P3 ATP13A2 SDHB
GH01F016977 0.9 ENCODE 44.7 +1.5 1516 4.7 PKNOX1 SIN3A ZNF48 ZNF121 ZNF143 FOS SMARCA5 CEBPB REST ZNF623 MFAP2 LOC105376805 PADI3 ATP13A2 CROCCP2 ENSG00000226526
GH01F016366 1.2 ENCODE 31.4 +613.7 613661 3.0 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 MFAP2 RPL22P3 ENSG00000237938 RSG1 ENSG00000224621 FAM231A SPEN RPS16P1 FBLIM1 ARHGEF19
GH01F016696 1.7 FANTOM5 Ensembl ENCODE 22.1 +281.3 281314 7.7 HDGF PKNOX1 ARNT CREB3L1 MLX ARID4B SIN3A FEZF1 ZNF2 YY1 MFAP2 ENSG00000237938 LINC01772 RPS16P1 ZBTB17 RPL22P3 ENSG00000224621 MST1L ESPNP TRE-TTC3-1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MFAP2 on UCSC Golden Path with GeneCards custom track

Promoters for MFAP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001517804 1343 1401 BCOR SIN3A ZMYM3 ZNF48 HIC1 ZNF121 ADNP ZNF143 ZSCAN29 SMARCA5

Genomic Location for MFAP2 Gene

16,974,500 bp from pter
16,981,643 bp from pter
7,144 bases
Minus strand

Genomic View for MFAP2 Gene

Genes around MFAP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MFAP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MFAP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MFAP2 Gene

Proteins for MFAP2 Gene

  • Protein details for MFAP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Microfibrillar-associated protein 2
    Protein Accession:
    Secondary Accessions:
    • Q53X60
    • Q5JXY0

    Protein attributes for MFAP2 Gene

    183 amino acids
    Molecular mass:
    20826 Da
    Quaternary structure:
    • Forms a ternary complex with BGN and ELN. Interacts with FBN1 (via N-terminal domain) and FBN2.

    Alternative splice isoforms for MFAP2 Gene


neXtProt entry for MFAP2 Gene

Post-translational modifications for MFAP2 Gene

  • Forms intermolecular disulfide bonds either with other MAGP-1 molecules or with other components of the microfibrils. May form transglutaminase cross-links.
  • O-glycosylated.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MFAP2 Gene

Antibody Products

  • Cloud-Clone Corp. Antibodies for MFAP2

No data available for DME Specific Peptides for MFAP2 Gene

Domains & Families for MFAP2 Gene

Protein Domains for MFAP2 Gene

Suggested Antigen Peptide Sequences for MFAP2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 ShKT domain.
  • Belongs to the MFAP family.
  • Contains 1 ShKT domain.
  • Belongs to the MFAP family.
genes like me logo Genes that share domains with MFAP2: view

No data available for Gene Families for MFAP2 Gene

Function for MFAP2 Gene

Molecular function for MFAP2 Gene

GENATLAS Biochemistry:
microfibrillar associated glycoprotein 2,component of elastin microfibrils in the extracellular matrix
UniProtKB/Swiss-Prot Function:
Component of the elastin-associated microfibrils.
genes like me logo Genes that share phenotypes with MFAP2: view

Animal Models for MFAP2 Gene

MGI Knock Outs for MFAP2:

Animal Model Products

  • Taconic Biosciences Mouse Models for MFAP2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MFAP2 Gene

Localization for MFAP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MFAP2 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MFAP2 gene
Compartment Confidence
extracellular 5

Gene Ontology (GO) - Cellular Components for MFAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001527 microfibril IDA 24353434
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
genes like me logo Genes that share ontologies with MFAP2: view

Pathways & Interactions for MFAP2 Gene

genes like me logo Genes that share pathways with MFAP2: view

Pathways by source for MFAP2 Gene

Gene Ontology (GO) - Biological Process for MFAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030198 extracellular matrix organization TAS --
GO:0048048 embryonic eye morphogenesis IEP 25406291
GO:0048050 post-embryonic eye morphogenesis IEP 25406291
genes like me logo Genes that share ontologies with MFAP2: view

No data available for SIGNOR curated interactions for MFAP2 Gene

Drugs & Compounds for MFAP2 Gene

(3) Drugs for MFAP2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for MFAP2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MFAP2: view

Transcripts for MFAP2 Gene

Unigene Clusters for MFAP2 Gene

Microfibrillar-associated protein 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MFAP2 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10a · 10b
SP1: - -
SP2: - -
SP3: - -
SP6: - - - -

Relevant External Links for MFAP2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MFAP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MFAP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MFAP2 Gene

This gene is overexpressed in Cervix - Ectocervix (x4.2).

Protein differential expression in normal tissues from HIPED for MFAP2 Gene

This gene is overexpressed in Gallbladder (17.0), Pancreas (6.8), and Testis (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MFAP2 Gene

Protein tissue co-expression partners for MFAP2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MFAP2 Gene:


SOURCE GeneReport for Unigene cluster for MFAP2 Gene:

genes like me logo Genes that share expression patterns with MFAP2: view

No data available for mRNA Expression by UniProt/SwissProt for MFAP2 Gene

Orthologs for MFAP2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MFAP2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MFAP2 34 35
  • 91.8 (n)
(Canis familiaris)
Mammalia MFAP2 34 35
  • 89.62 (n)
(Bos Taurus)
Mammalia MFAP2 34 35
  • 87.25 (n)
(Mus musculus)
Mammalia Mfap2 34 16 35
  • 85.93 (n)
(Rattus norvegicus)
Mammalia Mfap2 34
  • 83.7 (n)
(Ornithorhynchus anatinus)
Mammalia MFAP2 35
  • 82 (a)
(Gallus gallus)
Aves MFAP2 34 35
  • 73.48 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia mfap2 34
  • 64.79 (n)
MGC75763 34
African clawed frog
(Xenopus laevis)
Amphibia mfap2-prov 34
(Danio rerio)
Actinopterygii mfap2 34 35
  • 64.96 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8527 34
Species where no ortholog for MFAP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MFAP2 Gene

Gene Tree for MFAP2 (if available)
Gene Tree for MFAP2 (if available)

Paralogs for MFAP2 Gene

Paralogs for MFAP2 Gene

(2) SIMAP similar genes for MFAP2 Gene using alignment to 1 proteins: Pseudogenes for MFAP2 Gene

genes like me logo Genes that share paralogs with MFAP2: view

Variants for MFAP2 Gene

Sequence variations from dbSNP and Humsavar for MFAP2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1003673 -- 16,978,753(-) GGCTG(A/G)CCAGG intron-variant
rs1003674 -- 16,978,405(-) TGCCA(C/G)CTTCT intron-variant
rs1003675 -- 16,978,404(-) GCCAC(C/G)TTCTC intron-variant
rs1051158 -- 16,977,170(-) TATGA(C/T)CTGGA intron-variant, reference, synonymous-codon
rs1051225 -- 16,974,730(-) GGCAC(A/G)ATGGG upstream-variant-2KB, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for MFAP2 Gene

Variant ID Type Subtype PubMed ID
nsv954854 CNV deletion 24416366
nsv834280 CNV loss 17160897
nsv834269 CNV loss 17160897
nsv508947 CNV insertion 20534489
nsv428421 CNV gain+loss 18775914
nsv1143440 CNV deletion 24896259
nsv1077159 CNV deletion 25765185
esv2758925 CNV gain+loss 17122850
dgv92n100 CNV gain 25217958
dgv120n100 CNV gain 25217958
dgv108n100 CNV gain 25217958
dgv107n100 CNV gain 25217958

Variation tolerance for MFAP2 Gene

Residual Variation Intolerance Score: 50% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.41; 27.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MFAP2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MFAP2 Gene

Disorders for MFAP2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MFAP2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
costello syndrome
  • congenital myopathy with excess of muscle spindles
- elite association - COSMIC cancer census association via MalaCards
Search MFAP2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MFAP2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with MFAP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MFAP2 Gene

Publications for MFAP2 Gene

  1. Characterization of the human gene for microfibril-associated glycoprotein (MFAP2), assignment to chromosome 1p36.1-p35, and linkage to D1S170. (PMID: 7759096) Faraco J. … Francke U. (Genomics 1995) 2 3 4 22 64
  2. Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. (PMID: 21946350) Soler Artigas M. … Tobin M.D. (Nat. Genet. 2011) 3 46 64
  3. Hundreds of variants clustered in genomic loci and biological pathways affect human height. (PMID: 20881960) Lango Allen H. … Hirschhorn J.N. (Nature 2010) 3 46 64
  4. Exploring functional candidate genes for genetic association in german patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma. (PMID: 19182256) Krumbiegel M. … Reis A. (Invest. Ophthalmol. Vis. Sci. 2009) 3 46 64
  5. The intracellular form of human MAGP1 elicits a complex and specific transcriptional response. (PMID: 17692555) Segade F. … Mecham R.P. (Int. J. Biochem. Cell Biol. 2007) 3 22 64

Products for MFAP2 Gene

Sources for MFAP2 Gene

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