MMP10

Chr 11

matrix metallopeptidase 10

Also known as: SL-2, STMY2

NCBI Gene: 4319 ENSG00000166670 UniProt: P09238 OMIM: 185260

This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. This secreted protease breaks down fibronectin, laminin, elastin, proteoglycan core protein, gelatins, and several types of collagen. The gene is part of a cluster of MMP genes on chromosome 11. [provided by RefSeq, Jan 2016]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.41

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.41LOEUF

pLI 0.000

Z-score 0.04

OE 0.99 (0.71–1.41)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-1.08Z-score

OE missense 1.19 (1.08–1.31)

299 obs / 251.0 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.99 (0.71–1.41)

0≤0.351.4

Missense OE?1.19 (1.08–1.31)

0≤0.61.4

Synonymous OE?1.13

0≤1.21.6

LoF obs/exp: 22 / 22.2Missense obs/exp: 299 / 251.0Syn Z: -0.99

Background carrier burden — how many people carry a rare variant somewhere in MMP10?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 87

675 rare PASS variants

Rare truncating (LoF)

1 in 310

104 rare PASS variants

Rare synonymous (reference)

1 in 300

246 rare PASS variants

Rare missense and truncating variants are carried at similar rates in MMP10; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 140	1 in 670
South Asian	~43k	1 in 77	1 in 330
Remaining (unassigned)	~30k	1 in 61	1 in 300
European (Finnish)	~27k	1 in 350	1 in 530
Admixed American	~22k	1 in 78	1 in 330
African / African American	~21k	1 in 58	1 in 190
East Asian	~20k	1 in 75	1 in 730
Ashkenazi Jewish	~13k	1 in 840	1 in 2,600
Middle Eastern	~2,884	1 in 76	1 in 570

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 10 coding exons well covered in gnomAD exomes and genomes.? see exons ↓