MMP8

matrix metallopeptidase 8, the group of M10 matrix metallopeptidases

Basic information

Region (hg38): 11:102711796-102727050

Previous symbols: [ "CLG1" ]

Links

ENSG00000118113 ∙ NCBI:4317 ∙ OMIM:120355 ∙ HGNC:7175 ∙ Uniprot:P22894 ∙ 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 MMP8 gene.

• not_specified (64 variants)
• not_provided (14 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MMP8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002424.3. 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				2	3	5
missense			60	7	3	70
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	60	9	6

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MMP8	protein_coding	protein_coding	ENST00000236826	10	15256

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.07e-24	0.0000191	125459	1	286	125746	0.00114

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.613	277	250	1.11	0.0000123	3086
Missense in Polyphen		116	102.38	1.1331		1268
Synonymous	-1.70	110	89.5	1.23	0.00000477	857
Loss of Function	-1.49	32	24.1	1.33	0.00000127	271

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00402	0.00391
Ashkenazi Jewish	0.00	0.00
East Asian	0.00152	0.00152
Finnish	0.0000468	0.0000462
European (Non-Finnish)	0.00137	0.00133
Middle Eastern	0.00152	0.00152
South Asian	0.000364	0.000359
Other	0.00221	0.00212

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Can degrade fibrillar type I, II, and III collagens.
• Pathway: Matrix Metalloproteinases;Neutrophil degranulation;Collagen degradation;Extracellular matrix organization;Innate Immune System;Immune System;Degradation of the extracellular matrix (Consensus)

Recessive Scores

• pRec: 0.283

Intolerance Scores

• loftool: 0.938
• rvis_EVS: 1.58
• rvis_percentile_EVS: 95.75

Haploinsufficiency Scores

• pHI: 0.132
• hipred: N
• hipred_score: 0.133

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.630

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mmp8
• Phenotype: homeostasis/metabolism phenotype; neoplasm; immune system phenotype

Gene ontology

• Biological process: proteolysis;positive regulation of gene expression;negative regulation of gene expression;extracellular matrix disassembly;extracellular matrix organization;collagen catabolic process;negative regulation of interleukin-10 production;positive regulation of interleukin-6 production;endodermal cell differentiation;neutrophil degranulation;positive regulation of DNA binding;positive regulation of MAPK cascade;positive regulation of nitric oxide biosynthetic process;positive regulation of JNK cascade;regulation of neuroinflammatory response;positive regulation of neuroinflammatory response;positive regulation of NIK/NF-kappaB signaling;positive regulation of reactive oxygen species biosynthetic process;regulation of microglial cell activation;positive regulation of microglial cell activation;positive regulation of tumor necrosis factor secretion
• Cellular component: extracellular region;extracellular space;specific granule lumen;collagen-containing extracellular matrix;tertiary granule lumen
• Molecular function: endopeptidase activity;metalloendopeptidase activity;serine-type endopeptidase activity;zinc ion binding