MMP26

matrix metallopeptidase 26, the group of M10 matrix metallopeptidases

Basic information

Region (hg38): 11:4704783-4992431

Links

ENSG00000167346 ∙ NCBI:56547 ∙ OMIM:605470 ∙ HGNC:14249 ∙ Uniprot:Q9NRE1 ∙ 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 MMP26 gene.

• Inborn genetic diseases (172 variants)
• not provided (6 variants)
• not specified (2 variants)
• Bladder exstrophy-epispadias-cloacal extrophy complex (1 variants)
• Myoepithelial tumor (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MMP26 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				1		1
missense			11	2		13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			144	21	2	167
Total	0	0	155	24	2

Variants in MMP26

This is a list of pathogenic ClinVar variants found in the MMP26 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-4769013-C-T		not specified	Likely benign (Oct 03, 2022)
11-4769034-C-T		not specified	Uncertain significance (Nov 07, 2023)
11-4769059-G-C		not specified	Uncertain significance (Apr 13, 2022)
11-4769100-A-C		not specified	Uncertain significance (Nov 22, 2023)
11-4769116-G-A		not specified	Uncertain significance (May 17, 2023)
11-4769124-C-T		not specified	Likely benign (Aug 22, 2023)
11-4769325-C-T		not specified	Uncertain significance (Nov 08, 2022)
11-4769331-G-T		not specified	Uncertain significance (Feb 22, 2023)
11-4769392-G-A		not specified	Uncertain significance (Dec 19, 2022)
11-4769442-A-C		not specified	Uncertain significance (Oct 26, 2022)
11-4769460-C-A		not specified	Uncertain significance (Jan 23, 2023)
11-4769461-G-A		not specified	Uncertain significance (Jul 06, 2021)
11-4769560-T-G		not specified	Uncertain significance (Jan 03, 2024)
11-4769625-C-T		not specified	Uncertain significance (Aug 02, 2021)
11-4769643-CG-C		not specified	Benign (Mar 28, 2016)
11-4769665-C-T		not specified	Uncertain significance (Jul 14, 2023)
11-4769791-C-T		not specified	Uncertain significance (Dec 15, 2022)
11-4769839-C-A		not specified	Uncertain significance (Jan 04, 2022)
11-4769842-G-T		not specified	Uncertain significance (Dec 14, 2022)
11-4769866-C-T		not specified	Uncertain significance (Aug 04, 2023)
11-4769889-T-G		not specified	Uncertain significance (May 18, 2023)
11-4769908-G-C		not specified	Uncertain significance (Nov 13, 2023)
11-4803474-C-T		not specified	Likely benign (Jun 09, 2022)
11-4803500-A-T		not specified	Uncertain significance (Apr 07, 2023)
11-4803507-G-A		not specified	Uncertain significance (Oct 27, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MMP26	protein_coding	protein_coding	ENST00000380390	6	287503

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.36e-11	0.0322	125715	0	5	125720	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.228	149	141	1.05	0.00000681	1729
Missense in Polyphen		37	36.213	1.0217		476
Synonymous	0.360	52	55.4	0.938	0.00000315	477
Loss of Function	-0.341	15	13.6	1.10	5.82e-7	149

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000579	0.0000579
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.0000176	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May hydrolyze collagen type IV, fibronectin, fibrinogen, beta-casein, type I gelatin and alpha-1 proteinase inhibitor. Is also able to activate progelatinase B.
• Pathway: Matrix Metalloproteinases (Consensus)

Recessive Scores

• pRec: 0.103

Intolerance Scores

• loftool: 0.581
• rvis_EVS: 0.37
• rvis_percentile_EVS: 75.29

Haploinsufficiency Scores

• pHI: 0.0344
• hipred: N
• hipred_score: 0.158

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00000506

Gene Damage Prediction

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

Gene ontology

• Biological process: proteolysis;extracellular matrix organization;collagen catabolic process;negative regulation of inflammatory response
• Cellular component: extracellular space;extracellular matrix
• Molecular function: metalloendopeptidase activity;zinc ion binding