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Aliases for MFAP2 Gene

Aliases for MFAP2 Gene

  • Microfibrillar-Associated Protein 2 2 3
  • MAGP1 3 4 6
  • MAGP 3 4 6
  • Microfibril-Associated Glycoprotein 1 3 4
  • MAGP-1 3 4
  • MFAP-2 4

External Ids for MFAP2 Gene

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. 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

Genomic Location for MFAP2 Gene

Start:
16,974,502 bp from pter
End:
16,981,586 bp from pter
Size:
7,085 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

Regulatory Elements 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

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for MFAP2 Gene

Domains for MFAP2 Gene

Protein Domains for MFAP2 Gene

UniProtKB/Swiss-Prot:

MFAP2_HUMAN
Domain:
  • Contains 1 ShKT domain.:
    • P55001
Family:
  • Belongs to the MFAP family.:
    • P55001
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:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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 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 --
genes like me logo Genes that share ontologies with MFAP2: view

Compounds for MFAP2 Gene

(4) Novoseek inferred chemical compound relationships for MFAP2 Gene

Compound -log(P) Hits PubMed IDs
hyaluronic acid 29.8 1
proline 19.8 2
gold 11.7 1
tyrosine 0 3
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:

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 (4.2).

Integrated Proteomics: protein expression 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 expressions with MFAP2: view

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 36
  • 91.8 (n)
  • 89.39 (a)
MFAP2 37
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MFAP2 36
  • 87.25 (n)
  • 90.71 (a)
MFAP2 37
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MFAP2 36
  • 89.62 (n)
  • 93.44 (a)
MFAP2 37
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mfap2 36
  • 85.93 (n)
  • 90.56 (a)
Mfap2 16
Mfap2 37
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MFAP2 37
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mfap2 36
  • 83.7 (n)
  • 86.11 (a)
chicken
(Gallus gallus)
Aves MFAP2 36
  • 73.48 (n)
  • 75.69 (a)
MFAP2 37
  • 76 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia mfap2-prov 36
tropical clawed frog
(Silurana tropicalis)
Amphibia mfap2 36
  • 64.79 (n)
  • 62.92 (a)
MGC75763 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8527 36
zebrafish
(Danio rerio)
Actinopterygii mfap2 36
  • 64.96 (n)
  • 65.38 (a)
mfap2 37
  • 63 (a)
OneToOne
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

Selected 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
rs761422 -- 16,975,285(-) GCCCA(C/T)GAGGA synonymous-codon, reference
rs761423 -- 16,975,177(-) AACAC(A/G)TATTA intron-variant
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

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

Relevant External Links for MFAP2 Gene

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

Disorders for MFAP2 Gene

(1) Novoseek inferred disease relationships for MFAP2 Gene

Disease -log(P) Hits PubMed IDs
connective tissue diseases 35.1 1

Relevant External Links for MFAP2

Genetic Association Database (GAD)
MFAP2
Human Genome Epidemiology (HuGE) Navigator
MFAP2
genes like me logo Genes that share disorders with MFAP2: view

No data available for UniProtKB/Swiss-Prot 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. Functional domains on elastin and microfibril-associated glycoprotein involved in elastic fibre assembly. (PMID: 8761465) Brown-Augsburger P. … Mecham R.P. (Biochem. J. 1996) 3 23
  3. Microfibril-associated glycoprotein-1 (MAGP-1) binds to the pepsin-resistant domain of the alpha3(VI) chain of type VI collagen. (PMID: 9278443) Finnis M.L. … Gibson M.A. (J. Biol. Chem. 1997) 3 23
  4. Revised genomic structure of the human MAGP1 gene and identification of alternate transcripts in human and mouse tissues. (PMID: 11102756) Segade F. … Mecham R.P. (Matrix Biol. 2000) 4 23
  5. Posttranslational modifications of microfibril associated glycoprotein-1 (MAGP-1). (PMID: 11284693) Trask B.C. … Mecham R.P. (Biochemistry 2001) 3 23

Products for MFAP2 Gene

Sources for MFAP2 Gene

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