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Aliases for MFAP2 Gene

Aliases for MFAP2 Gene

  • Microfibrillar-Associated Protein 2 2 3
  • Microfibril-Associated Glycoprotein 1 3 4
  • MAGP-1 3 4
  • MAGP1 3 4
  • MAGP 3 4
  • 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 Degradation of the extracellular matrix and Elastic fibre formation. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for MFAP2 Gene

Chromosome:
1
Start:
16,974,500 bp from pter
End:
16,981,643 bp from pter
Size:
7,144 bases
Orientation:
Minus strand

Genomic View for MFAP2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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.

    Alternative splice isoforms for MFAP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MFAP2 Gene

Proteomics data for MFAP2 Gene at MOPED

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

P55001

UniProtKB/Swiss-Prot:

MFAP2_HUMAN :
  • Contains 1 ShKT domain.
  • Belongs to the MFAP family.
Domain:
  • Contains 1 ShKT domain.
Family:
  • 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

Gene Ontology (GO) - Molecular Function for MFAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001968 fibronectin binding IEA --
GO:0005515 protein binding --
GO:0070051 fibrinogen binding IEA --
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:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MFAP2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
Jensen Localization Image for MFAP2 Gene 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 --
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:0030220 platelet formation IEA --
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
Hyaluronan Approved Pharma 328
proline Nutra 20
tyrosine Nutra 547

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Gold
  • Au Gold powder
  • Auride
  • Aurum
  • Aurum Metallicum
  • Burnish gold
7440-57-5
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MFAP2

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

Relevant External Links for MFAP2 Gene

GeneLoc Exon Structure for
MFAP2
ECgene alternative splicing isoforms for
MFAP2

Expression for MFAP2 Gene

mRNA expression in normal human tissues 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



SOURCE GeneReport for Unigene cluster for MFAP2 Gene Hs.389137

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

Protein tissue co-expression partners for MFAP2 Gene

- Elite partner

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia MFAP2 35
  • 87.25 (n)
  • 90.71 (a)
MFAP2 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MFAP2 35
  • 89.62 (n)
  • 93.44 (a)
MFAP2 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mfap2 35
  • 85.93 (n)
  • 90.56 (a)
Mfap2 16
Mfap2 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MFAP2 35
  • 91.8 (n)
  • 89.39 (a)
MFAP2 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mfap2 35
  • 83.7 (n)
  • 86.11 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia MFAP2 36
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves MFAP2 35
  • 73.48 (n)
  • 75.69 (a)
MFAP2 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mfap2 35
  • 64.79 (n)
  • 62.92 (a)
MGC75763 35
African clawed frog
(Xenopus laevis)
Amphibia mfap2-prov 35
zebrafish
(Danio rerio)
Actinopterygii mfap2 35
  • 64.96 (n)
  • 65.38 (a)
mfap2 36
  • 63 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8527 35
Species with no ortholog for MFAP2:
  • 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

ENSEMBL:
Gene Tree for MFAP2 (if available)
TreeFam:
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.org 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 MAF
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
rs2284746 -- 16,980,180(-) TCCGC(C/G)GCTGA intron-variant
rs2284747 -- 16,980,101(-) CTCTG(A/G)AGCCG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv29e1 CNV Complex 17122850
nsv428421 CNV Gain+Loss 18775914
dgv30e1 CNV Complex 17122850
dgv40e1 CNV Complex 17122850
nsv834269 CNV Loss 17160897
nsv834280 CNV Loss 17160897
nsv508947 CNV Insertion 20534489
dgv184n71 CNV Loss 21882294
dgv185n71 CNV Loss 21882294
nsv871590 CNV Loss 21882294

Variation tolerance for MFAP2 Gene

Residual Variation Intolerance Score: 50.03% 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

HapMap Linkage Disequilibrium report
MFAP2
Human Gene Mutation Database (HGMD)
MFAP2

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
Search MFAP2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MFAP2

Genetic Association Database (GAD)
MFAP2
Human Genome Epidemiology (HuGE) Navigator
MFAP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MFAP2
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 23 67
  2. Defining elastic fiber interactions by molecular fishing: an affinity purification and mass spectrometry approach. (PMID: 19755719) Cain S.A. … Kielty C.M. (Mol. Cell Proteomics 2009) 23 67
  3. Functional evolution of the microfibril-associated glycoproteins. (PMID: 19332111) Segade F. (Gene 2009) 23 67
  4. The management of exfoliative glaucoma. (PMID: 18929111) Ritch R. (Prog. Brain Res. 2008) 23 67
  5. Fibrillins, fibulins, and matrix-associated glycoprotein modulate the kinetics and morphology of in vitro self-assembly of a recombinant elastin-like polypeptide. (PMID: 18973305) Cirulis J.T. … Keeley F.W. (Biochemistry 2008) 23 67

Products for MFAP2 Gene

Sources for MFAP2 Gene

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