This gene encodes a member of the von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains five von Willebrand factor A domains. The specific function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
13
Pubs (1 yr)
P/LP submissions
P/LP missense
0.88
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.88LOEUF
pLI 0.000
Z-score 2.22
OE 0.64 (0.470.88)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.67Z-score
OE missense 0.80 (0.740.86)
437 obs / 546.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.64 (0.470.88)
00.351.4
Missense OE?0.80 (0.740.86)
00.61.4
Synonymous OE?0.88
01.21.6
LoF obs/exp: 28 / 43.9Missense obs/exp: 437 / 546.8Syn Z: 1.34

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MATN2 · 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

No active trials found for this gene.

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