MMP10

matrix metallopeptidase 10, the group of M10 matrix metallopeptidases

Basic information

Region (hg38): 11:102770502-102780628

Previous symbols: [ "STMY2" ]

Links

ENSG00000166670 ∙ NCBI:4319 ∙ OMIM:185260 ∙ HGNC:7156 ∙ Uniprot:P09238 ∙ 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 MMP10 gene.

• not_specified (65 variants)
• not_provided (6 variants)
• Essential_tremor (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MMP10 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002425.3. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	1	2
missense			63	3		66
nonsense				1		1
start loss						0
frameshift			1			1
splice donor/acceptor (+/-2bp)					1	1
Total	0	0	64	5	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MMP10	protein_coding	protein_coding	ENST00000279441	10	10126

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.91e-15	0.0149	121474	33	4240	125747	0.0171

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.08	299	251	1.19	0.0000120	3149
Missense in Polyphen		107	88.408	1.2103		1151
Synonymous	-0.995	106	93.7	1.13	0.00000479	887
Loss of Function	0.0405	22	22.2	0.991	0.00000102	278

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0219	0.0214
Ashkenazi Jewish	0.0200	0.0198
East Asian	0.00137	0.00114
Finnish	0.00486	0.00486
European (Non-Finnish)	0.0242	0.0241
Middle Eastern	0.00137	0.00114
South Asian	0.0167	0.0164
Other	0.0216	0.0216

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Can degrade fibronectin, gelatins of type I, III, IV, and V; weakly collagens III, IV, and V. Activates procollagenase.
• Pathway: Matrix Metalloproteinases;MAPK6-MAPK4 signaling;VEGFA-VEGFR2 Signaling Pathway;Signal Transduction;MAPK6/MAPK4 signaling;Collagen degradation;Extracellular matrix organization;Activation of Matrix Metalloproteinases;MAPK family signaling cascades;Degradation of the extracellular matrix (Consensus)

Recessive Scores

• pRec: 0.634

Intolerance Scores

• loftool: 0.928
• rvis_EVS: 1.14
• rvis_percentile_EVS: 92.3

Haploinsufficiency Scores

• pHI: 0.0972
• hipred: N
• hipred_score: 0.156

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.623

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mmp10
• Phenotype: immune 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); normal phenotype; respiratory system phenotype

Gene ontology

• Biological process: proteolysis;extracellular matrix disassembly;extracellular matrix organization;collagen catabolic process
• Cellular component: extracellular region;extracellular space;extracellular matrix
• Molecular function: metalloendopeptidase activity;serine-type endopeptidase activity;zinc ion binding