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Aliases for MFAP5 Gene

Aliases for MFAP5 Gene

  • Microfibrillar Associated Protein 5 2 3 5
  • MAGP-2 3 4
  • MFAP-5 3 4
  • MAGP2 3 4
  • MP25 3 4
  • Microfibril-Associated Glycoprotein-2 3
  • Microfibril-Associated Glycoprotein 2 4
  • THE1A-MFAP5 3
  • AAT9 3

External Ids for MFAP5 Gene

Previous GeneCards Identifiers for MFAP5 Gene

  • GC12M008690
  • GC12M008689
  • GC12M008798
  • GC12M008585
  • GC12M008806

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 and mfap5-related thoracic aortic aneurysms and aortic dissections. Among its related pathways are Degradation of the extracellular matrix and Notch signaling pathway (Pathway Interaction Database). 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

Regulatory Elements for MFAP5 Gene

Promoters for MFAP5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MFAP5 on UCSC Golden Path with GeneCards custom track

Genomic Location for MFAP5 Gene

Chromosome:
12
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

Genes around MFAP5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MFAP5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MFAP5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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 Thr 54 and Asn 79
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cloud-Clone Corp. Antibodies for MFAP5

No data available for DME Specific Peptides for MFAP5 Gene

Domains & Families for MFAP5 Gene

Protein Domains for MFAP5 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q13361

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for MFAP5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MFAP5 Gene

MGI Knock Outs for MFAP5:

Animal Model Products

  • Taconic Biosciences Mouse Models for MFAP5

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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

No data available for Gene Ontology (GO) - Cellular Components for MFAP5 Gene

Pathways & Interactions 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

Gene Ontology (GO) - Biological Process for MFAP5 Gene

None

No data available for SIGNOR curated interactions for MFAP5 Gene

Drugs & Compounds for MFAP5 Gene

No Compound Related Data Available

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 (x6.6), Adipose - Subcutaneous (x5.4), and Uterus (x4.9).

Protein differential expression in normal tissues from HIPED for MFAP5 Gene

This gene is overexpressed in Gallbladder (11.8).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with MFAP5: view

Protein tissue co-expression partners for MFAP5 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for MFAP5 Gene

Orthologs for MFAP5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MFAP5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MFAP5 35
  • 85.88 (n)
  • 80 (a)
MFAP5 36
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MFAP5 35
  • 86.47 (n)
  • 83.53 (a)
MFAP5 36
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mfap5 35
  • 82.52 (n)
  • 81.1 (a)
Mfap5 16
Mfap5 36
  • 80 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MFAP5 35
  • 99.61 (n)
  • 98.84 (a)
MFAP5 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mfap5 35
  • 81.62 (n)
  • 81.21 (a)
oppossum
(Monodelphis domestica)
Mammalia MFAP5 36
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves MFAP5 35
  • 58.61 (n)
  • 49.02 (a)
MFAP5 36
  • 44 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MFAP5 36
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101734819 35
  • 61.76 (n)
  • 60.29 (a)
zebrafish
(Danio rerio)
Actinopterygii mfap5 36
  • 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

(2) 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
VAR_036430 A breast cancer sample
VAR_072688 Aortic aneurysm, familial thoracic 9 (AAT9)
rs14541 -- 8,647,970(-) CAATG(C/T)CCAGC nc-transcript-variant, utr-variant-3-prime
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

Variation tolerance for MFAP5 Gene

Residual Variation Intolerance Score: 56.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.47; 10.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MFAP5 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MFAP5 Gene

Disorders for MFAP5 Gene

MalaCards: The human disease database

(5) MalaCards diseases for MFAP5 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
aortic aneurysm, familial thoracic 9
  • aat9
mfap5-related thoracic aortic aneurysms and aortic dissections
  • aortic aneurysm, familial thoracic 9
aortic aneurysm
  • abdominal aortic aneurysm, ruptured
aneurysm
  • aneurysms
simpson-golabi-behmel syndrome
  • bulldog syndrome
- elite association - COSMIC cancer census association via MalaCards
Search MFAP5 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for MFAP5

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MFAP5
genes like me logo Genes that share disorders with MFAP5: view

No data available for Genatlas for MFAP5 Gene

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 67
  2. A gene signature predictive for outcome in advanced ovarian cancer identifies a survival factor: microfibril-associated glycoprotein 2. (PMID: 19962670) Mok S.C. … Birrer M.J. (Cancer Cell 2009) 3 23
  3. 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
  4. 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
  5. Enriched protein screening of human bone marrow mesenchymal stromal cell secretions reveals MFAP5 and PENK as novel IL-10 modulators. (PMID: 24496384) Milwid J.M. … Parekkadan B. (Mol. Ther. 2014) 3

Products for MFAP5 Gene

Sources for MFAP5 Gene

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