MMP7

matrix metallopeptidase 7, the group of M10 matrix metallopeptidases

Basic information

Region (hg38): 11:102520508-102530750

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.

not_specified (31 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. These statistics are base on transcript: NM_000002423.5. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous					3 clinvar	3
missense			29 clinvar	2 clinvar	2 clinvar	33
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	29	2	5

Loading clinvar variants...

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