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 R... See more...

Aliases for MFAP5 Gene

Aliases for MFAP5 Gene

  • Microfibril Associated Protein 5 2 3 5
  • Microfibril-Associated Glycoprotein-2 2 3
  • Microfibrillar-Associated Protein 5 3 4
  • Microfibrillar Associated Protein 5 2 3
  • MAGP-2 3 4
  • MFAP-5 3 4
  • MAGP2 3 4
  • MP25 3 4
  • 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 (Microfibril Associated Protein 5) is a Protein Coding gene. Diseases associated with MFAP5 include Aortic Aneurysm, Familial Thoracic 9 and Familial Thoracic Aortic Aneurysm And Dissection. Among its related pathways are Notch Signaling Pathway (WikiPathways) and MFAP5-mediated ovarian cancer cell motility and invasiveness. Gene Ontology (GO) annotations related to this gene include extracellular matrix structural constituent. An important paralog of this gene is MFAP2.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for MFAP5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MFAP5 Gene

Genomics for MFAP5 Gene

GeneHancer (GH) Regulatory Elements for MFAP5 Gene

Promoters and enhancers for MFAP5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J008659 Promoter/Enhancer 1.6 EPDnew FANTOM5 Ensembl ENCODE 502.6 -2.1 -2086 10.1 EP300 DEK CEBPB CHD2 RCOR1 GTF2F1 MAX MAZ STAT3 TBP RIMKLB MFAP5 ENSG00000255829 lnc-MFAP5-3 LOC101060064
GH12J008672 Promoter/Enhancer 0.7 EPDnew FANTOM5 500.4 -9.7 -9721 0.3 ZFP36 MFAP5 CLEC6A CLEC4E M6PR ENSG00000249790 CLEC4D ENSG00000255829 LOC101060064
GH12J008909 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.2 -250.6 -250574 8.3 EP300 CTCF NRF1 PHF8 ZBTB5 AFF1 ZBTB26 SAP30 RFX1 MYC PHC1 ENSG00000282022 KLRG1 M6PR ENSG00000255829 MFAP5 A2ML1 A2ML1-AS2 piR-36588-083
GH12J008639 Enhancer 0.6 Ensembl ENCODE 13 +23.3 23287 1.2 FOXA1 GATA3 ZNF579 FOS HSALNG0089081 ENSG00000255829 MFAP5 CLEC4E A2ML1 A2ML1-AS2 RNU6-275P RIMKLB piR-62045-003
GH12J008637 Enhancer 0.5 Ensembl ENCODE 13 +25.1 25115 0.9 ZIC2 CTCF HSALNG0089081 piR-62045-003 ENSG00000255829 MFAP5 CLEC4E A2ML1 A2ML1-AS2 RNU6-275P HADHAP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MFAP5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MFAP5

Top Transcription factor binding sites by QIAGEN in the MFAP5 gene promoter:
  • Bach1
  • Brachyury
  • Cdc5
  • GCNF
  • GCNF-1
  • GCNF-2
  • HSF2
  • Ik-1
  • MIF-1
  • RFX1

Genomic Locations for MFAP5 Gene

Genomic Locations for MFAP5 Gene
chr12:8,637,346-8,662,888
(GRCh38/hg38)
Size:
25,543 bases
Orientation:
Minus strand
chr12:8,789,942-8,815,484
(GRCh37/hg19)
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. Interacts with BMP2. Interacts with FBN1 (via N-terminal domain) and FBN2.

    Alternative splice isoforms for MFAP5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MFAP5 Gene

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
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • MFAP5_HUMAN (752)

No data available for DME Specific Peptides for MFAP5 Gene

Domains & Families for MFAP5 Gene

Gene Families for MFAP5 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for MFAP5 Gene

Blocks:
  • Microfibril-associated glycoprotein
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MFAP5 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ42377 fis, clone UTERU2035469, highly similar to Microfibrillar-associated protein 5 (B3KW70_HUMAN)
  • Microfibril-associated glycoprotein 2 (MFAP5_HUMAN)
  • cDNA FLJ54936, highly similar to Microfibrillar-associated protein 5 (Q7Z490_HUMAN)

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

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 RCA,TAS 25037231
genes like me logo Genes that share ontologies with MFAP5: view
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

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
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 MFAP5 gene
Compartment Confidence
extracellular 5
plasma membrane 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for MFAP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001527 microfibril ISS --
GO:0005576 extracellular region TAS --
GO:0031012 extracellular matrix IEA --
GO:0062023 collagen-containing extracellular matrix HDA 25037231
genes like me logo Genes that share ontologies with MFAP5: view

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

Gene Ontology (GO) - Biological Process for MFAP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030198 extracellular matrix organization TAS --
GO:0060216 definitive hemopoiesis ISS --
GO:0097435 supramolecular fiber organization IEA --
genes like me logo Genes that share ontologies with MFAP5: view

No data available for SIGNOR curated interactions for MFAP5 Gene

Drugs & Compounds for MFAP5 Gene

No Compound Related Data Available

Transcripts for MFAP5 Gene

mRNA/cDNA for MFAP5 Gene

5 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

No ASD Table

Relevant External Links for MFAP5 Gene

GeneLoc Exon Structure for
MFAP5

Expression for MFAP5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for MFAP5 Gene



Protein tissue co-expression partners for MFAP5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MFAP5

SOURCE GeneReport for Unigene cluster for MFAP5 Gene:

Hs.512842

Evidence on tissue expression from TISSUES for MFAP5 Gene

  • Muscle(4.4)
  • Liver(4.1)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MFAP5 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • mouth
  • pharynx
  • skull
Thorax:
  • aorta
  • chest wall
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • abdominal wall
  • intestine
Pelvis:
  • pelvis
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with MFAP5: view

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
chimpanzee
(Pan troglodytes)
Mammalia MFAP5 31 30
  • 99.61 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MFAP5 31 30
  • 86.47 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MFAP5 31 30
  • 85.88 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mfap5 17 31 30
  • 82.52 (n)
rat
(Rattus norvegicus)
Mammalia Mfap5 30
  • 81.62 (n)
oppossum
(Monodelphis domestica)
Mammalia MFAP5 31
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves MFAP5 31 30
  • 58.61 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MFAP5 31
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101734819 30
  • 61.76 (n)
zebrafish
(Danio rerio)
Actinopterygii mfap5 31
  • 33 (a)
OneToOne
Species where no ortholog for MFAP5 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MFAP5: view image

Paralogs for MFAP5 Gene

Paralogs for MFAP5 Gene

(2) SIMAP similar genes for MFAP5 Gene using alignment to 9 proteins:

  • MFAP5_HUMAN
  • B3KW70_HUMAN
  • F5GYX4_HUMAN
  • F5H1C0_HUMAN
  • F5H2W4_HUMAN
  • F5H413_HUMAN
  • F5H7Z2_HUMAN
  • H0YG03_HUMAN
  • H0YGS3_HUMAN
genes like me logo Genes that share paralogs with MFAP5: view

Variants for MFAP5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MFAP5 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
636624 Uncertain Significance: not provided 8,649,528(-) C/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
668293 Likely Benign: not provided 8,654,418(-) G/C INTRON_VARIANT
668685 Likely Benign: not provided 8,650,537(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON_VARIANT
669640 Benign: not provided 8,648,486(-) C/A INTRON_VARIANT
674704 Benign: not provided 8,660,999(-) T/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for MFAP5 Gene

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

Variant ID Type Subtype PubMed ID
esv2667162 CNV deletion 23128226
nsv1051530 CNV gain 25217958

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)

Additional Variant Information for MFAP5 Gene

Human Gene Mutation Database (HGMD)
MFAP5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MFAP5

SNP Genotyping and Copy Number Assay Products

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

Disorders for MFAP5 Gene

MalaCards: The human disease database

(12) MalaCards diseases for MFAP5 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
aortic aneurysm, familial thoracic 9
  • aat9
familial thoracic aortic aneurysm and dissection
  • annuloaortic ectasia
aortic aneurysm
  • abdominal aortic aneurysm, ruptured
aneurysm
  • aneurysms
vein disease
  • disorder of vein
- 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.

Additional Disease Information for 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 MA (The Journal of biological chemistry 1998) 2 3 4 23 54
  2. Further characterization of proteins associated with elastic fiber microfibrils including the molecular cloning of MAGP-2 (MP25) (PMID: 8557636) Gibson MA … Cleary EG (The Journal of biological chemistry 1996) 2 3 4 54
  3. 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 (American journal of human genetics 2014) 3 4 54
  4. A gene signature predictive for outcome in advanced ovarian cancer identifies a survival factor: microfibril-associated glycoprotein 2. (PMID: 19962670) Mok SC … Birrer MJ (Cancer cell 2009) 3 23 54
  5. Microfibril-associate glycoprotein-2 (MAGP-2) promotes angiogenic cell sprouting by blocking notch signaling in endothelial cells. (PMID: 18417156) Albig AR … Schiemann WP (Microvascular research 2008) 3 23 54

Products for MFAP5 Gene

Sources for MFAP5 Gene