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] See more...

Aliases for MFAP2 Gene

Aliases for MFAP2 Gene

  • Microfibril Associated Protein 2 2 3 5
  • MAGP-1 2 3 4
  • MAGP 2 3 4
  • Microfibril-Associated Glycoprotein 1 3 4
  • Microfibrillar Associated Protein 2 2 3
  • Microfibrillar-Associated Protein 2 3 4
  • MAGP1 3 4
  • Microfibril-Associated Glycoprotein-1 2
  • MFAP-2 4
  • MFAP2 5

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 (Microfibril Associated Protein 2) is a Protein Coding gene. Diseases associated with MFAP2 include Costello Syndrome and Weill-Marchesani Syndrome. Among its related pathways are Degradation of the extracellular matrix and Canonical and Non-canonical Notch signaling. Gene Ontology (GO) annotations related to this gene include fibronectin binding and fibrinogen binding. An important paralog of this gene is MFAP5.

UniProtKB/Swiss-Prot Summary for MFAP2 Gene

Gene Wiki entry for MFAP2 Gene

Additional gene information for MFAP2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MFAP2 Gene

Genomics for MFAP2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MFAP2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MFAP2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MFAP2

Top Transcription factor binding sites by QIAGEN in the MFAP2 gene promoter:
  • AREB6
  • ATF6
  • Brachyury
  • E47
  • Lmo2
  • p53

Genomic Locations for MFAP2 Gene

Genomic Locations for MFAP2 Gene
chr1:16,974,502-16,981,586
(GRCh38/hg38)
Size:
7,085 bases
Orientation:
Minus strand
chr1:17,300,997-17,308,081
(GRCh37/hg19)
Size:
7,085 bases
Orientation:
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:
    P55001-MFAP2_HUMAN
    Recommended name:
    Microfibrillar-associated protein 2
    Protein Accession:
    P55001
    Secondary Accessions:
    • Q53X60
    • Q5JXY0

    Protein attributes for MFAP2 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

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

No data available for DME Specific Peptides for MFAP2 Gene

Domains & Families for MFAP2 Gene

Gene Families for MFAP2 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for MFAP2 Gene

InterPro:
Blocks:
  • Metridin-like ShK toxin
  • Microfibril-associated glycoprotein
ProtoNet:

Suggested Antigen Peptide Sequences for MFAP2 Gene

GenScript: Design optimal peptide antigens:
  • Microfibril-associated glycoprotein 1 (MFAP2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P55001

UniProtKB/Swiss-Prot:

MFAP2_HUMAN :
  • Belongs to the MFAP family.
Family:
  • Belongs to the MFAP family.
genes like me logo Genes that share domains with MFAP2: view

Function for MFAP2 Gene

Molecular function for MFAP2 Gene

UniProtKB/Swiss-Prot Function:
Component of the elastin-associated microfibrils.
GENATLAS Biochemistry:
microfibrillar associated glycoprotein 2,component of elastin microfibrils in the extracellular matrix

Phenotypes From GWAS Catalog for MFAP2 Gene

Gene Ontology (GO) - Molecular Function for MFAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent RCA 25037231
genes like me logo Genes that share ontologies with MFAP2: view
genes like me logo Genes that share phenotypes with MFAP2: view

Animal Models for MFAP2 Gene

MGI Knock Outs for MFAP2:
  • Mfap2 Mfap2<tm1a(KOMP)Wtsi>
  • Mfap2 Mfap2<tm1Mech>

Animal Model Products

  • Taconic Biosciences Mouse Models for MFAP2

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MFAP2

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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

COMPARTMENTS
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
plasma membrane 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

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:0062023 collagen-containing extracellular matrix HDA 25037231
genes like me logo Genes that share ontologies with MFAP2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MFAP2 Gene

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
GO:0120162 positive regulation of cold-induced thermogenesis ISS 24458361
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

(4) Drugs for MFAP2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with MFAP2: view

Transcripts for MFAP2 Gene

mRNA/cDNA for MFAP2 Gene

4 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MFAP2

Clone 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: - -
SP4:
SP5:
SP6: - - - -

Relevant External Links for MFAP2 Gene

GeneLoc Exon Structure for
MFAP2

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 and MOPED for MFAP2 Gene



Protein tissue co-expression partners for MFAP2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MFAP2

SOURCE GeneReport for Unigene cluster for MFAP2 Gene:

Hs.389137

Evidence on tissue expression from TISSUES for MFAP2 Gene

  • Heart(2.4)
  • Skin(2.2)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with MFAP2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
Chimpanzee
(Pan troglodytes)
Mammalia MFAP2 30 31
  • 91.8 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MFAP2 30 31
  • 89.62 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MFAP2 30 31
  • 87.25 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mfap2 30 17 31
  • 85.93 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mfap2 30
  • 83.7 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia MFAP2 31
  • 82 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MFAP2 30 31
  • 73.48 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mfap2 30
  • 64.79 (n)
MGC75763 30
African clawed frog
(Xenopus laevis)
Amphibia mfap2-prov 30
Zebrafish
(Danio rerio)
Actinopterygii mfap2 30 31
  • 64.96 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8527 30
Species where no ortholog for MFAP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

ENSEMBL:
Gene Tree for MFAP2 (if available)
TreeFam:
Gene Tree for MFAP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MFAP2: view image

Paralogs for MFAP2 Gene

Paralogs for MFAP2 Gene

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

  • MFAP2_HUMAN

Pseudogenes.org Pseudogenes for MFAP2 Gene

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

Variants for MFAP2 Gene

Additional dbSNP identifiers (rs#s) for MFAP2 Gene

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

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

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)

Additional Variant Information for MFAP2 Gene

Human Gene Mutation Database (HGMD)
MFAP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MFAP2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MFAP2 Gene

Disorders for MFAP2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for MFAP2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
costello syndrome
  • cstlo
weill-marchesani syndrome
  • wms
geleophysic dysplasia
  • geleophysic dwarfism
connective tissue disease
  • connective tissue disorder
- elite association - COSMIC cancer census association via MalaCards
Search MFAP2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MFAP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 23
  2. Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. (PMID: 21946350) Soler Artigas M … Tobin MD (Nature genetics 2011) 3 41
  3. Hundreds of variants clustered in genomic loci and biological pathways affect human height. (PMID: 20881960) Lango Allen H … Hirschhorn JN (Nature 2010) 3 41
  4. Exploring functional candidate genes for genetic association in german patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma. (PMID: 19182256) Krumbiegel M … Reis A (Investigative ophthalmology & visual science 2009) 3 41
  5. The intracellular form of human MAGP1 elicits a complex and specific transcriptional response. (PMID: 17692555) Segade F … Mecham RP (The international journal of biochemistry & cell biology 2007) 3 23

Products for MFAP2 Gene

Sources for MFAP2 Gene