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Aliases for MFAP5 Gene

Aliases for MFAP5 Gene

  • Microfibrillar Associated Protein 5 2 3
  • MAGP2 3 4 6
  • MAGP-2 3 4
  • MFAP-5 3 4
  • MP25 3 4
  • Microfibril-Associated Glycoprotein-2 3
  • Microfibril-Associated Glycoprotein 2 4
  • Microfibrillar-Associated Protein 5 3
  • AAT9 3

External Ids for MFAP5 Gene

Summaries for MFAP5 Gene

Entrez Gene Summary for MFAP5 Gene

  • This gene encodes a 25-kD microfibril-associated glycoprotein which is a component of microfibrils of the extracellular matrix. The encoded protein promotes attachment of cells to microfibrils via alpha-V-beta-3 integrin. Deficiency of this gene in mice results in neutropenia. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]

GeneCards Summary for MFAP5 Gene

MFAP5 (Microfibrillar Associated Protein 5) is a Protein Coding gene. Diseases associated with MFAP5 include aortic aneurysm, familial thoracic 9. Among its related pathways are Degradation of the extracellular matrix and Elastic fibre formation. GO annotations related to this gene include extracellular matrix structural constituent. An important paralog of this gene is MFAP2.

UniProtKB/Swiss-Prot for MFAP5 Gene

  • May play a role in hematopoiesis. In the cardiovascular system, could regulate growth factors or participate in cell signaling in maintaining large vessel integrity (By similarity). Component of the elastin-associated microfibrils (PubMed:8557636).

Gene Wiki entry for MFAP5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MFAP5 Gene

Genomics for MFAP5 Gene

Genomic Location for MFAP5 Gene

Start:
8,637,346 bp from pter
End:
8,662,888 bp from pter
Size:
25,543 bases
Orientation:
Minus strand

Genomic View for MFAP5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MFAP5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MFAP5 Gene

Regulatory Elements for MFAP5 Gene

Proteins for MFAP5 Gene

  • Protein details for MFAP5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13361-MFAP5_HUMAN
    Recommended name:
    Microfibrillar-associated protein 5
    Protein Accession:
    Q13361
    Secondary Accessions:
    • B0AZL6
    • D3DUV1
    • Q7Z490

    Protein attributes for MFAP5 Gene

    Size:
    173 amino acids
    Molecular mass:
    19612 Da
    Quaternary structure:
    • Interacts with TGFB2 (By similarity). Interacts with BMP2 (By similarity).

    Alternative splice isoforms for MFAP5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MFAP5 Gene

Proteomics data for MFAP5 Gene at MOPED

Post-translational modifications for MFAP5 Gene

  • Forms intermolecular disulfide bonds either with other MAGP-2 molecules or with other components of the microfibrils
  • N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans. O-glycan heterogeneity at Thr-54: HexHexNAc (major) and HexHexNAc + sulfate (minor).
  • Glycosylation at Thr54 and Asn79

No data available for DME Specific Peptides for MFAP5 Gene

Domains for MFAP5 Gene

Protein Domains for MFAP5 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

MFAP5_HUMAN
Family:
  • Belongs to the MFAP family.:
    • Q13361
genes like me logo Genes that share domains with MFAP5: view

No data available for Gene Families for MFAP5 Gene

Function for MFAP5 Gene

Molecular function for MFAP5 Gene

UniProtKB/Swiss-Prot Function: May play a role in hematopoiesis. In the cardiovascular system, could regulate growth factors or participate in cell signaling in maintaining large vessel integrity (By similarity). Component of the elastin-associated microfibrils (PubMed:8557636).

Gene Ontology (GO) - Molecular Function for MFAP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent TAS 8557636
genes like me logo Genes that share ontologies with MFAP5: view
genes like me logo Genes that share phenotypes with MFAP5: view

Animal Models for MFAP5 Gene

MGI Knock Outs for MFAP5:

miRNA for MFAP5 Gene

miRTarBase miRNAs that target MFAP5

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for MFAP5 Gene

Localization for MFAP5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MFAP5 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MFAP5 Gene COMPARTMENTS Subcellular localization image for MFAP5 gene
Compartment Confidence
extracellular 5
cytoskeleton 1
cytosol 1

Gene Ontology (GO) - Cellular Components for MFAP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001527 microfibril IEA --
GO:0005576 extracellular region TAS --
GO:0031012 extracellular matrix --
genes like me logo Genes that share ontologies with MFAP5: view

Pathways for MFAP5 Gene

genes like me logo Genes that share pathways with MFAP5: view

Pathways by source for MFAP5 Gene

1 R&D Systems pathway for MFAP5 Gene
1 BioSystems pathway for MFAP5 Gene

Gene Ontology (GO) - Biological Process for MFAP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030198 extracellular matrix organization TAS --
GO:0043206 extracellular fibril organization IEA --
GO:0060216 definitive hemopoiesis ISS --
genes like me logo Genes that share ontologies with MFAP5: view

Transcripts for MFAP5 Gene

Unigene Clusters for MFAP5 Gene

Microfibrillar associated protein 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MFAP5 Gene

No ASD Table

Relevant External Links for MFAP5 Gene

GeneLoc Exon Structure for
MFAP5
ECgene alternative splicing isoforms for
MFAP5

Expression for MFAP5 Gene

mRNA expression in normal human tissues for MFAP5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MFAP5 Gene

This gene is overexpressed in Nerve - Tibial (6.6), Adipose - Subcutaneous (5.4), and Uterus (4.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for MFAP5 Gene

SOURCE GeneReport for Unigene cluster for MFAP5 Gene Hs.512842

genes like me logo Genes that share expressions with MFAP5: view

Orthologs for MFAP5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MFAP5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MFAP5 36
  • 99.61 (n)
  • 98.84 (a)
MFAP5 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MFAP5 36
  • 85.88 (n)
  • 80 (a)
MFAP5 37
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MFAP5 36
  • 86.47 (n)
  • 83.53 (a)
MFAP5 37
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mfap5 36
  • 82.52 (n)
  • 81.1 (a)
Mfap5 16
Mfap5 37
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MFAP5 37
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mfap5 36
  • 81.62 (n)
  • 81.21 (a)
chicken
(Gallus gallus)
Aves MFAP5 36
  • 58.61 (n)
  • 49.02 (a)
MFAP5 37
  • 44 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MFAP5 37
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101734819 36
  • 61.76 (n)
  • 60.29 (a)
zebrafish
(Danio rerio)
Actinopterygii mfap5 37
  • 33 (a)
OneToOne
Species with no ortholog for MFAP5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 MFAP5 Gene

ENSEMBL:
Gene Tree for MFAP5 (if available)
TreeFam:
Gene Tree for MFAP5 (if available)

Paralogs for MFAP5 Gene

Paralogs for MFAP5 Gene

Selected SIMAP similar genes for MFAP5 Gene using alignment to 9 proteins:

genes like me logo Genes that share paralogs with MFAP5: view

Variants for MFAP5 Gene

Sequence variations from dbSNP and Humsavar for MFAP5 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs14541 -- 8,647,970(-) CAATG(C/T)CCAGC utr-variant-3-prime, nc-transcript-variant, downstream-variant-500B
rs1802863 -- 8,662,069(-) TTTCT(A/T)GCTGC synonymous-codon, reference, nc-transcript-variant
rs1966728 -- 8,656,668(+) TATAT(A/T)TTTTT intron-variant
rs2043942 -- 8,652,592(+) CCAGG(A/G)AAAAT intron-variant
rs2043943 -- 8,652,952(+) tggga(C/G)gccag intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MFAP5 Gene

Variant ID Type Subtype PubMed ID
esv2667162 CNV Deletion 23128226

Relevant External Links for MFAP5 Gene

HapMap Linkage Disequilibrium report
MFAP5
Human Gene Mutation Database (HGMD)
MFAP5

Disorders for MFAP5 Gene

UniProtKB/Swiss-Prot

MFAP5_HUMAN
  • Aortic aneurysm, familial thoracic 9 (AAT9) [MIM:616166]: A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as medial necrosis or Erdheim cystic medial necrosis in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. {ECO:0000269 PubMed:25434006}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) Novoseek inferred disease relationships for MFAP5 Gene

Disease -log(P) Hits PubMed IDs
skin fibrosis 83.5 1
genes like me logo Genes that share disorders with MFAP5: view

Publications for MFAP5 Gene

  1. The exon structure of the human MAGP-2 gene. Similarity with the MAGP-1 gene is confined to two exons encoding a cysteine-rich region. (PMID: 9792630) Hatzinikolas G. … Gibson M.A. (J. Biol. Chem. 1998) 2 3 4 23
  2. Further characterization of proteins associated with elastic fiber microfibrils including the molecular cloning of MAGP-2 (MP25). (PMID: 8557636) Gibson M.A. … Cleary E.G. (J. Biol. Chem. 1996) 2 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections. (PMID: 25434006) Barbier M. … Boileau C. (Am. J. Hum. Genet. 2014) 3 4
  5. Microfibril-associate glycoprotein-2 (MAGP-2) promotes angiogenic cell sprouting by blocking notch signaling in endothelial cells. (PMID: 18417156) Albig A.R. … Schiemann W.P. (Microvasc. Res. 2008) 3 23

Products for MFAP5 Gene

Sources for MFAP5 Gene

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