MMP7

matrix metallopeptidase 7, the group of M10 matrix metallopeptidases

Basic information

Region (hg38): 11:102520507-102530750

Previous symbols: [ "MPSL1" ]

Links

ENSG00000137673 ∙ NCBI:4316 ∙ OMIM:178990 ∙ HGNC:7174 ∙ Uniprot:P09237 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MMP7 gene.

• Inborn genetic diseases (9 variants)
• not provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MMP7 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					3	3
missense			8	1	2	11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	1	5

Variants in MMP7

This is a list of pathogenic ClinVar variants found in the MMP7 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
11-102523285-A-C		not specified	Uncertain significance (Aug 10, 2021)
11-102523293-G-A			Benign (Jun 27, 2018)
11-102525013-G-A		not specified	Uncertain significance (Jul 19, 2023)
11-102527538-C-T		not specified	Uncertain significance (Dec 28, 2022)
11-102527553-G-T		not specified	Uncertain significance (Jul 30, 2023)
11-102527605-T-A		not specified	Uncertain significance (Sep 26, 2023)
11-102527626-A-C		not specified	Uncertain significance (Jan 02, 2024)
11-102527652-T-C		not specified	Uncertain significance (Aug 02, 2023)
11-102527669-G-A			Benign (Jul 04, 2018)
11-102527807-G-A			Benign (Jul 04, 2018)
11-102527861-G-A			Benign (Jul 04, 2018)
11-102527941-T-G			Benign (Aug 05, 2018)
11-102527956-C-T		not specified	Uncertain significance (Jan 10, 2023)
11-102530609-T-C		not specified	Uncertain significance (Dec 21, 2022)
11-102530630-G-A		not specified	Uncertain significance (Nov 09, 2021)
11-102530645-G-A		not specified	Uncertain significance (Dec 28, 2023)
11-102530661-C-T		not specified	Likely benign (Dec 16, 2021)
11-102530681-C-T		not specified	Uncertain significance (Dec 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MMP7	protein_coding	protein_coding	ENST00000260227	6	10246

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.04e-9	0.0935	125683	0	65	125748	0.000258

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.431	166	151	1.10	0.00000801	1727
Missense in Polyphen		66	60.189	1.0965		711
Synonymous	-1.28	72	59.4	1.21	0.00000341	519
Loss of Function	0.0766	14	14.3	0.978	8.22e-7	156

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000658	0.000658
Ashkenazi Jewish	0.000405	0.000397
East Asian	0.000272	0.000272
Finnish	0.000234	0.000231
European (Non-Finnish)	0.000141	0.000141
Middle Eastern	0.000272	0.000272
South Asian	0.000621	0.000621
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Degrades casein, gelatins of types I, III, IV, and V, and fibronectin. Activates procollagenase. {ECO:0000269|PubMed:2550050}.
• Pathway: Wnt signaling pathway - Homo sapiens (human);Matrix Metalloproteinases;AGE-RAGE pathway;Wnt Signaling Pathway and Pluripotency;Assembly of collagen fibrils and other multimeric structures;Collagen degradation;Collagen formation;Extracellular matrix organization;Activation of Matrix Metalloproteinases;Degradation of the extracellular matrix;Posttranslational regulation of adherens junction stability and dissassembly;Syndecan-1-mediated signaling events;p75(NTR)-mediated signaling (Consensus)

Recessive Scores

• pRec: 0.568

Intolerance Scores

• loftool: 0.913
• rvis_EVS: 0.33
• rvis_percentile_EVS: 73.54

Haploinsufficiency Scores

• pHI: 0.0894
• hipred: N
• hipred_score: 0.260
• ghis: 0.438

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.521

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Mmp7
• Phenotype: homeostasis/metabolism phenotype; cellular phenotype; growth/size/body region phenotype; immune system phenotype; digestive/alimentary phenotype; vision/eye phenotype; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); neoplasm

Gene ontology

• Biological process: proteolysis;aging;extracellular matrix disassembly;extracellular matrix organization;collagen catabolic process;response to nutrient levels;estrous cycle;maternal process involved in female pregnancy;cellular response to mechanical stimulus
• Cellular component: extracellular region;extracellular space;cell surface;extracellular matrix;extracellular exosome
• Molecular function: metalloendopeptidase activity;serine-type endopeptidase activity;protein binding;heparin binding;metallopeptidase activity;zinc ion binding