MFAP5

Chr 12p13.31

microfibril associated protein 5

Aliases:: MAGP2, MP25
MANE:: ENST00000359478.7

OMIM: 601103 ↗NCBI: 8076 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

MFAP5 · Q13361

v62025-08-01

Predicted Aligned Error matrix for MFAP5 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

64.9/ 100

Low

173 residues

Confidence breakdown

Very high(≥ 90)19%
Confident(70–90)25%
Low(50–70)22%
Very low(< 50)34%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Thoracic aortic aneurysm or dissection (GMS)
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pneumothorax - familial
Thoracic aortic aneurysm or dissection
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

familial thoracic aortic aneurysm and aortic dissection
0.67
hypertensive disorder
0.42
thoracic aortic aneurysm
0.27
Rare disease with thoracic aortic aneurysm and aortic dissection
0.27
response to xenobiotic stimulus
0.20
Abnormality of the cardiovascular system
0.19
connective tissue disorder
0.12
neoplasm
0.11
ovarian carcinoma
0.10
ovarian cancer
0.10

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Microfibrillar-associated protein 5

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)