MFAP5

Chr 12

microfibril associated protein 5

Also known as: AAT9, MAGP-2, MAGP2, MFAP-5, MP25

NCBI Gene: 8076ENSG00000197614UniProt: Q13361

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]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtAortic aneurysm, familial thoracic 9

Clinical highlights

Gene-disease validity (ClinGen)
familial thoracic aortic aneurysm and aortic dissection · ADModerateconsider for supplementary testing
0
Active trials
37
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.85
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — MFAP5
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.85LOEUF
pLI 0.005
Z-score 1.97
OE 0.43 (0.23–0.85)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.32Z-score
OE missense 0.91 (0.77–1.08)
96 obs / 105.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.43 (0.23–0.85)
0≤0.351.4
Missense OE?0.91 (0.77–1.08)
0≤0.61.4
Synonymous OE?1.13
0≤1.21.6
LoF obs/exp: 6 / 14.0Missense obs/exp: 96 / 105.3Syn Z: -0.60

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MFAP5 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients