MMP11

matrix metallopeptidase 11, the group of M10 matrix metallopeptidases

Basic information

Region (hg38): 22:23768226-23784316

Previous symbols: [ "STMY3" ]

Links

ENSG00000099953 ∙ NCBI:4320 ∙ OMIM:185261 ∙ HGNC:7157 ∙ Uniprot:P24347 ∙ 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 MMP11 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MMP11 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					2	2
missense			39	2		41
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	39	2	2

Variants in MMP11

This is a list of pathogenic ClinVar variants found in the MMP11 region.

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

Position	Type	Phenotype	Significance	ClinVar
22-23772875-C-A		not specified	Uncertain significance (Nov 08, 2022)
22-23772883-G-A		not specified	Uncertain significance (Jan 12, 2024)
22-23772898-G-C		not specified	Uncertain significance (Oct 12, 2022)
22-23772907-C-T		not specified	Uncertain significance (Feb 05, 2024)
22-23779190-G-T		not specified	Uncertain significance (Jul 20, 2021)
22-23779229-T-A		not specified	Uncertain significance (Jul 05, 2022)
22-23779236-C-A		not specified	Likely benign (Feb 21, 2024)
22-23779265-C-T		not specified	Uncertain significance (May 26, 2024)
22-23779272-C-T		not specified	Uncertain significance (Aug 17, 2021)
22-23779286-C-T		not specified	Uncertain significance (Feb 28, 2023)
22-23779314-G-A		not specified	Uncertain significance (Apr 22, 2024)
22-23779328-G-A		not specified	Uncertain significance (Aug 26, 2022)
22-23779338-A-G		not specified	Uncertain significance (Sep 14, 2022)
22-23779350-C-T		not specified	Uncertain significance (Aug 16, 2022)
22-23779373-G-A		not specified	Uncertain significance (Aug 02, 2022)
22-23779401-C-G		not specified	Uncertain significance (Aug 23, 2021)
22-23779401-C-T		not specified	Uncertain significance (Mar 29, 2024)
22-23780399-C-T		not specified	Uncertain significance (Aug 11, 2022)
22-23780608-T-G		not specified	Uncertain significance (Jan 23, 2023)
22-23780623-G-A		not specified	Uncertain significance (Jun 07, 2024)
22-23780700-A-G		not specified	Uncertain significance (May 17, 2023)
22-23780704-G-T		not specified	Uncertain significance (Nov 18, 2022)
22-23780900-G-A		not specified	Uncertain significance (Apr 25, 2023)
22-23780960-C-T		not specified	Uncertain significance (May 21, 2024)
22-23780970-T-C		not specified	Uncertain significance (Apr 25, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MMP11	protein_coding	protein_coding	ENST00000215743	8	16091

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000241	0.982	125694	0	54	125748	0.000215

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.650	268	300	0.894	0.0000194	3134
Missense in Polyphen		109	129.54	0.84146		1307
Synonymous	1.17	114	131	0.870	0.00000939	1029
Loss of Function	2.12	11	21.7	0.508	0.00000129	197

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000405	0.000405
Ashkenazi Jewish	0.00	0.00
East Asian	0.000387	0.000381
Finnish	0.000118	0.0000924
European (Non-Finnish)	0.000217	0.000211
Middle Eastern	0.000387	0.000381
South Asian	0.000203	0.000196
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play an important role in the progression of epithelial malignancies.
• Pathway: Matrix Metalloproteinases;Collagen degradation;Extracellular matrix organization;Activation of Matrix Metalloproteinases;Degradation of the extracellular matrix (Consensus)

Recessive Scores

• pRec: 0.378

Intolerance Scores

• loftool: 0.710
• rvis_EVS: -0.16
• rvis_percentile_EVS: 42.16

Haploinsufficiency Scores

• pHI: 0.214
• hipred: N
• hipred_score: 0.343
• ghis: 0.492

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.286

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mmp11
• 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); neoplasm; homeostasis/metabolism phenotype

Gene ontology

• Biological process: proteolysis;multicellular organism development;extracellular matrix disassembly;extracellular matrix organization;collagen fibril organization;collagen catabolic process;negative regulation of fat cell differentiation;basement membrane organization
• Cellular component: extracellular region;extracellular space;Golgi lumen;extracellular matrix
• Molecular function: metalloendopeptidase activity;serine-type endopeptidase activity;zinc ion binding