U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

MFAP5 microfibril associated protein 5 [ Homo sapiens (human) ]

Gene ID: 8076, updated on 5-Aug-2026
Official Symbol
MFAP5provided by HGNC
Official Full Name
microfibril associated protein 5provided by HGNC
Primary source
HGNC:HGNC:29673
See related
Ensembl:ENSG00000197614 MIM:601103; AllianceGenome:HGNC:29673
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AAT9; MP25; MAGP2; MAGP-2; MFAP-5
Summary
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]
Expression
Biased expression in fat (RPKM 53.2), endometrium (RPKM 51.6) and 11 other tissues See more
Orthologs
all
Try the new Gene page
Try the new Transcripts and proteins table
See MFAP5 in Genome Data Viewer
Location:
12p13.31
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2025_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (8645943..8662826, complement)
RS_2025_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (8629231..8655815, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (8798539..8815422, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene activation induced cytidine deaminase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:8779867-8780858 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5936 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:8788329-8789138 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:8790755-8791562 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:8791770-8792686 Neighboring gene NANOG hESC enhancer GRCh37_chr12:8797315-8797837 Neighboring gene HADHA pseudogene 2 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:8800473-8801672 Neighboring gene Fanconi anemia core complex-associated protein 24-like Neighboring gene ribosomal modification protein rimK like family member B Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:8850416-8851382 Neighboring gene ribosomal protein SA pseudogene 51

Go to nucleotide: Graphics FASTA GenBank

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Related articles in PubMed

  1. Upregulation of MFAP5 Enhances COL1A1 Expression, Promoting Epithelial-Mesenchymal Transition in Gastric Cancer Cells. Shi Y, et al. Discov Med, 2024 Oct. PMID 39463228
  2. Identification of the chondrocyte lineage using microfibril-associated glycoprotein-2, a novel marker that distinguishes chondrocytes from synovial cells. Rapko S, et al. Tissue Eng Part C Methods, 2010 Dec. PMID 20345228, Free PMC Article
  3. MFAP5 promotes tumor progression and bone metastasis by regulating ERK/MMP signaling pathways in breast cancer. Wu Z, et al. Biochem Biophys Res Commun, 2018 Apr 6. PMID 29526753
  4. Proteomic Analysis of Cancer-Associated Fibroblasts Reveals a Paracrine Role for MFAP5 in Human Oral Tongue Squamous Cell Carcinoma. Principe S, et al. J Proteome Res, 2018 Jun 1. PMID 29681158
  5. DNA methylation and gene expression profiling reveal MFAP5 as a regulatory driver of extracellular matrix remodeling in varicose vein disease. Smetanina MA, et al. Epigenomics, 2018 Aug. PMID 30070582

See all (59) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Loci cg06256735 and cg15815843 in the MFAP5 gene regulatory regions are hypomethylated in varicose veins apparently due to active demethylation.
    Title: Loci cg06256735 and cg15815843 in the MFAP5 gene regulatory regions are hypomethylated in varicose veins apparently due to active demethylation.
  2. Microfibril-Associated Glycoprotein-2 Promoted Fracture Healing via Integrin alphavbeta3/PTK2/AKT Signaling.
    Title: Microfibril-Associated Glycoprotein-2 Promoted Fracture Healing via Integrin αvβ3/PTK2/AKT Signaling.
  3. Targeting MFAP5 in cancer-associated fibroblasts sensitizes pancreatic cancer to PD-L1-based immunochemotherapy via remodeling the matrix.
    Title: Targeting MFAP5 in cancer-associated fibroblasts sensitizes pancreatic cancer to PD-L1-based immunochemotherapy via remodeling the matrix.
  4. MAGP2 induces tumor progression by enhancing uPAR-mediated cell proliferation.
    Title: MAGP2 induces tumor progression by enhancing uPAR-mediated cell proliferation.
  5. Reduced MFAP5 expression in stroma of gallbladder adenocarcinoma and its potential diagnostic utility.
    Title: Reduced MFAP5 expression in stroma of gallbladder adenocarcinoma and its potential diagnostic utility.
  6. CAFs-derived MFAP5 promotes bladder cancer malignant behavior through NOTCH2/HEY1 signaling.
    Title: CAFs-derived MFAP5 promotes bladder cancer malignant behavior through NOTCH2/HEY1 signaling.
  7. Stromal fibroblast-derived MFAP5 promotes the invasion and migration of breast cancer cells via Notch1/slug signaling.
    Title: Stromal fibroblast-derived MFAP5 promotes the invasion and migration of breast cancer cells via Notch1/slug signaling.
  8. Anticancer Immunotherapy by MFAP5 Blockade Inhibits Fibrosis and Enhances Chemosensitivity in Ovarian and Pancreatic Cancer.
    Title: Anticancer Immunotherapy by MFAP5 Blockade Inhibits Fibrosis and Enhances Chemosensitivity in Ovarian and Pancreatic Cancer.
  9. this study showed that MFAP5 is a novel myoepithelial cell marker that appears to be upregulated in duct epithelium in duct carcinoma in situ and invasive carcinoma of no special type during tumorogenesis
    Title: Immunohistochemical Expression of Microfibrillar-associated Protein 5 (MFAP5) in Invasive Breast Carcinoma of No Special Type.
  10. Authors showed that MFAP5 promoted ICC cell growth and G1 to S-phase transition. Using RNA-seq expression and ATAC-seq chromatin accessibility profiling of ICC cells with suppressed MFAP5 secretion, we showed that MFAP5 regulated the expression of genes involved in the Notch1 signaling pathway.
    Title: MFAP5 facilitates the aggressiveness of intrahepatic Cholangiocarcinoma by activating the Notch1 signaling pathway.
Submit: New GeneRIF Correction See all GeneRIFs (29)

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Aortic aneurysm, familial thoracic 9
MedGen: C4015368 OMIM: 616166 GeneReviews: Not available
Compare labs

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables extracellular matrix structural constituent RCA
inferred from Reviewed Computational Analysis
more info
 PubMed 
enables extracellular matrix structural constituent TAS
Traceable Author Statement
more info
 PubMed 
enables microfibril binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in definitive hemopoiesis IEA
Inferred from Electronic Annotation
more info
  
involved_in definitive hemopoiesis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in embryonic eye morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in extracellular matrix HDA PubMed 
located_in extracellular matrix IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular region TAS
Traceable Author Statement
more info
  
is_active_in microfibril IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in microfibril ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in microfibril TAS
Traceable Author Statement
more info
 PubMed 
located_in non-collagenous component of interstitial matrix TAS
Traceable Author Statement
more info
 PubMed 
Preferred Names
microfibrillar-associated protein 5
Names
THE1A-MFAP5
microfibril-associated glycoprotein-2
microfibrillar associated protein 5

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_041814.1 RefSeqGene

    Range
    5063..21946
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001297709.2 → NP_001284638.1  microfibrillar-associated protein 5 isoform b precursor

    See identical proteins and their annotated locations for NP_001284638.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon, in the central coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
    Source sequence(s)
    AI494006, AK124368, AK299475, AL833019, DB247952
    Consensus CDS
    CCDS73437.1
    UniProtKB/TrEMBL
    A8K3H0
    Related
    ENSP00000379798.2, ENST00000396549.7
    Conserved Domains (1) summary
    pfam05507
    Location:33 → 128
    MAGP; Microfibril-associated glycoprotein (MAGP)

  2. NM_001297710.2 → NP_001284639.1  microfibrillar-associated protein 5 isoform c precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two alternate in-frame exons in the coding region compared to variant 1. The encoded isoform (c) is shorter than isoform a.
    Source sequence(s)
    AI494006, AK124368, AL833019, BX396041, DB247952
    Consensus CDS
    CCDS76522.1
    UniProtKB/TrEMBL
    A0ACI8UNP7, F5GYX4
    Related
    ENSP00000441492.1, ENST00000543369.6
    Conserved Domains (1) summary
    pfam05507
    Location:21 → 116
    MAGP; Microfibril-associated glycoprotein (MAGP)

  3. NM_001297711.2 → NP_001284640.1  microfibrillar-associated protein 5 isoform d precursor

    See identical proteins and their annotated locations for NP_001284640.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two alternate in-frame exons in the coding region compared to variant 1. The encoded isoform (d) is shorter than isoform a.
    Source sequence(s)
    AI494006, AK124368, AL833019, DB247952
    Consensus CDS
    CCDS76523.1
    UniProtKB/TrEMBL
    A8K3H0, B3KW70, F6UJ56
    Related
    ENSP00000411997.2, ENST00000433590.6
    Conserved Domains (1) summary
    pfam05507
    Location:33 → 113
    MAGP; Microfibril-associated glycoprotein (MAGP)

  4. NM_001297712.2 → NP_001284641.1  microfibrillar-associated protein 5 isoform e precursor

    See identical proteins and their annotated locations for NP_001284641.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks three alternate in-frame exons in the coding region compared to variant 1. The encoded isoform (e) is shorter than isoform a.
    Source sequence(s)
    AI494006, AK124368, AL833019, DA544968, DB247952
    Consensus CDS
    CCDS76524.1
    UniProtKB/TrEMBL
    F5H413
    Related
    ENSP00000438525.1, ENST00000535336.6
    Conserved Domains (1) summary
    pfam05507
    Location:3 → 75
    MAGP; Microfibril-associated glycoprotein (MAGP)

  5. NM_003480.4 → NP_003471.1  microfibrillar-associated protein 5 isoform a precursor

    See identical proteins and their annotated locations for NP_003471.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AI494006, AK124368, AL833019, DB247952, U37283
    Consensus CDS
    CCDS8595.1
    UniProtKB/Swiss-Prot
    B0AZL6, D3DUV1, Q13361, Q7Z490
    UniProtKB/TrEMBL
    A8K3H0
    Related
    ENSP00000352455.2, ENST00000359478.7
    Conserved Domains (1) summary
    pfam05507
    Location:3 → 138
    MAGP; Microfibril-associated glycoprotein (MAGP)

RNA

  1. NR_123733.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI494006, AK124368, AL833019, DB247952, DN996275

  2. NR_123734.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks an alternate internal exon, and contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI494006, AK124368, AL833019, BU929788, DB247952

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2025_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    8645943..8662826 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    8629231..8655815 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054373294.1 → XP_054229269.1  microfibrillar-associated protein 5 isoform X2

    UniProtKB/TrEMBL
    A8K3H0

  2. XM_054373293.1 → XP_054229268.1  microfibrillar-associated protein 5 isoform X1

    UniProtKB/Swiss-Prot
    B0AZL6, D3DUV1, Q13361, Q7Z490
    UniProtKB/TrEMBL
    A8K3H0
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q13361.1 GenPept UniProtKB/Swiss-Prot:Q13361

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous