MMP7

Chr 11

matrix metallopeptidase 7

Also known as: MMP-7, MPSL1, PUMP-1

NCBI Gene: 4316 ENSG00000137673 UniProt: P09237 OMIM: 178990

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 proteoglycans, fibronectin, elastin and casein and differs from most MMP family members in that it lacks a conserved C-terminal hemopexin domain. The enzyme is involved in wound healing, and studies in mice suggest that it regulates the activity of defensins in intestinal mucosa. The gene is part of a cluster of MMP genes on chromosome 11. This gene exhibits elevated expression levels in multiple human cancers. [provided by RefSeq, Jan 2016]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

198

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.52

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.52LOEUF

pLI 0.000

Z-score 0.08

OE 0.98 (0.65–1.52)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.43Z-score

OE missense 1.10 (0.97–1.25)

166 obs / 151.1 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.98 (0.65–1.52)

0≤0.351.4

Missense OE?1.10 (0.97–1.25)

0≤0.61.4

Synonymous OE?1.21

0≤1.21.6

LoF obs/exp: 14 / 14.3Missense obs/exp: 166 / 151.1Syn Z: -1.28

Background carrier burden — how many people carry a rare variant somewhere in MMP7?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 140

383 rare PASS variants

Rare truncating (LoF)

1 in 2,000

63 rare PASS variants

Rare synonymous (reference)

1 in 220

156 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for MMP7. 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 220	1 in 2,800
South Asian	~43k	1 in 140	1 in 760
Remaining (unassigned)	~30k	1 in 140	1 in 700
European (Finnish)	~27k	1 in 1,100	1 in 2,700
Admixed American	~22k	1 in 120	1 in 1,700
African / African American	~21k	1 in 110	1 in 1,000
East Asian	~20k	1 in 140	1 in 2,000
Ashkenazi Jewish	~13k	1 in 250	1 in 1,100
Middle Eastern	~2,884	1 in 110	≈ 1 in 580

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 5 of 6 coding exons well covered in gnomAD exomes; exon 6 marginal. Genomes: all 6.? see exons ↓