AtlasGene
MFAP5
microfibril associated protein 5
- HGNC 29673↗(opens in a new tab)
- Ensembl gene ENSG00000197614↗(opens in a new tab)
- NCBI Gene 8076↗(opens in a new tab)
Summary
- Cytogenetic location
- 12p13.31
- Coordinates
- Chromosome 12: 8,645,943–8,662,826 (GRCh38)
- Exons
- 10 exons across 16.9 kb
- Protein
- 173 amino acids
- Also known as
- MAGP2, MP25
- MANE Select transcript
- ENST00000359478.7NM_003480.4
- Locus type
- Protein-coding
- Very high
- Confident
- Low
- Very low
AtlasThis page as data
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Get my Genome TestCurated report relevant to this gene
Aortic Aneurysm
- Familial Thoracic Aortic Aneurysm and DissectionAutosomal dominant
Inherited widening and tearing of the thoracic aorta, caused by changes in genes such as ACTA2, MYH11, MYLK, LOX, PRKG1, MFAP5 and THSD4.
- ClinGen rates the link moderate
- 1 GenCC submitter rates it definitive or strong
▶Actionability
Knowing about it supports regular aortic imaging, blood pressure control and timely preventive surgery, and screening of relatives.
How MFAP5 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.9 kb of the gene's 16.9 kb; 522 of those bases code for the protein.
Sequencing MFAP5
1Low
How hard MFAP5 is to sequence with short reads, out of 100Each bar is the share of MFAP5's exon bases in that kind of difficult region. The score weighs them by how much each costs a short-read call: 0 when no base is in any, 100 when every base is in all of them.
- MappabilityStretches where 100 or 250 bp reads cannot be placed uniquely, so a call there may be missing or wrong. Weight 35%.0.5%
- HomologySegmental duplications: copies elsewhere in the genome, such as paralogues and pseudogenes, at 90% identity or more. Weight 30%.0%
- RepeatsTandem repeats and runs of one base, which reads slip on and may not span. Weight 15%.4.8%
- GC contentWindows under 25% or over 65% G and C, which library preparation covers thinly. Weight 10%.0%
- Reference coverageGaps in the reference assembly nearby, where there is no sequence for reads to align to. Weight 10%.0%
4
positions in MFAP5 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 16.9 kb of MFAP5, introns included, not only the 2.9 kb of exons.
Genes linked to the same conditions
- ACTA2actin alpha 2, smooth muscleShares 1 condition
- FBN1fibrillin 1Shares 1 condition
- FOXE3forkhead box E3Shares 1 condition
- LOXlysyl oxidaseShares 1 condition
- MYH11myosin heavy chain 11Shares 1 condition
- MYLKmyosin light chain kinaseShares 1 condition
- PRKG1protein kinase cGMP-dependent 1Shares 1 condition
- TGFB2transforming growth factor beta 2Shares 1 condition
- TGFBR1transforming growth factor beta receptor 1Shares 1 condition
- TGFBR2transforming growth factor beta receptor 2Shares 1 condition
- THSD4thrombospondin type 1 domain containing 4Shares 1 condition
Traits linked to MFAP5
The Human Phenotype Ontology lists these as features of the rare conditions MFAP5 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the cardiovascular system
- Cutis marmorata
- Mucoid extracellular matrix accumulation
- Abnormal left ventricular function
- Aortic regurgitation
- Aortic tortuosity
- Ascending aortic dissection
- Descending aortic dissection
- Enlarged heart
Show 18 more traits
- High blood pressure
- Plaque build-up in arteries supplying blood to heart
- Abdominal aortic aneurysm
- Aortic valve has two leaflets rather than three
- Brain aneurysm
- Bulge in wall of root of large artery that carries blood away from heart
- Carotid artery dilatation
- Depleted blood volume
- Descending thoracic aorta aneurysm
- Ischemic stroke
- Mini stroke
- Mitral valve prolapse
- Patent ductus arteriosus
- Peripheral arterial stenosis
- Quivering upper heart chambers resulting in irregular heartbeat
- Stroke
- Tear in inner wall of large artery that carries blood away from heart
- Thoracic aortic aneurysm
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-17: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.17-8666dff2.
Cite this page
Dante Labs. (n.d.). MFAP5 gene: microfibril associated protein 5. Retrieved 18 October 2026, from https://dantelabs.com/genes/mfap5
Dante Labs. MFAP5 gene: microfibril associated protein 5 [Internet]. [cited 18 October 2026]. Available from: https://dantelabs.com/genes/mfap5
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