MMP17

matrix metallopeptidase 17, the group of M10 matrix metallopeptidases

Basic information

Region (hg38): 12:131828392-131851783

Links

ENSG00000198598 ∙ NCBI:4326 ∙ OMIM:602285 ∙ HGNC:7163 ∙ Uniprot:Q9ULZ9 ∙ 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 MMP17 gene.

• Inborn genetic diseases (45 variants)
• not provided (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MMP17 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				3	3	6
missense			42	3	1	46
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1		1
Total	0	0	42	7	4

Variants in MMP17

This is a list of pathogenic ClinVar variants found in the MMP17 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-131828511-C-G		not specified	Uncertain significance (Nov 17, 2022)
12-131828513-C-T		not specified	Uncertain significance (Dec 21, 2023)
12-131828519-C-G		not specified	Uncertain significance (Jun 03, 2022)
12-131828520-C-A		not specified	Uncertain significance (Oct 06, 2021)
12-131828571-T-C		not specified	Uncertain significance (Dec 07, 2023)
12-131828606-G-C		not specified	Uncertain significance (Dec 15, 2023)
12-131838209-G-T		not specified	Uncertain significance (Apr 24, 2023)
12-131838213-G-C		not specified	Uncertain significance (May 26, 2022)
12-131838255-A-G		not specified	Uncertain significance (Oct 27, 2021)
12-131838256-C-A		not specified	Uncertain significance (Aug 28, 2023)
12-131838263-G-C		not specified	Uncertain significance (May 27, 2022)
12-131838267-C-A			Likely benign (May 11, 2018)
12-131838291-C-G		not specified	Uncertain significance (May 27, 2022)
12-131838311-G-C		not specified	Uncertain significance (Dec 20, 2022)
12-131838318-G-A		not specified	Uncertain significance (Jan 30, 2024)
12-131838645-G-A		not specified	Uncertain significance (Jan 31, 2024)
12-131838716-T-C		not specified	Uncertain significance (Nov 21, 2023)
12-131838731-C-G		not specified	Uncertain significance (Nov 18, 2022)
12-131838732-T-C		not specified	Uncertain significance (Aug 17, 2021)
12-131840577-C-T		not specified	Uncertain significance (Oct 06, 2021)
12-131840610-G-A		not specified	Uncertain significance (Oct 16, 2023)
12-131840613-A-T		not specified	Uncertain significance (Feb 17, 2022)
12-131840614-C-T		not specified	Uncertain significance (Dec 20, 2022)
12-131840640-C-T		not specified	Uncertain significance (Nov 08, 2021)
12-131840659-T-G		not specified	Uncertain significance (Jul 13, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MMP17	protein_coding	protein_coding	ENST00000360564	10	23391

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.20e-8	0.695	125701	0	46	125747	0.000183

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.212	359	371	0.969	0.0000267	3799
Missense in Polyphen		146	164.85	0.88564		1454
Synonymous	-0.390	175	169	1.04	0.0000138	1281
Loss of Function	1.30	15	21.5	0.697	0.00000101	236

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000303	0.000300
Ashkenazi Jewish	0.00	0.00
East Asian	0.000110	0.000109
Finnish	0.000207	0.000185
European (Non-Finnish)	0.000135	0.000132
Middle Eastern	0.000110	0.000109
South Asian	0.000578	0.000555
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Endopeptidase that degrades various components of the extracellular matrix, such as fibrin. May be involved in the activation of membrane-bound precursors of growth factors or inflammatory mediators, such as tumor necrosis factor-alpha. May also be involved in tumoral process. Cleaves pro-TNF-alpha at the '74-Ala-|-Gln-75' site. Not obvious if able to proteolytically activate progelatinase A. Does not hydrolyze collagen types I, II, III, IV and V, gelatin, fibronectin, laminin, decorin nor alpha1- antitrypsin.
• Pathway: Matrix Metalloproteinases;Extracellular matrix organization;Activation of Matrix Metalloproteinases;Degradation of the extracellular matrix (Consensus)

Recessive Scores

• pRec: 0.202

Intolerance Scores

• loftool: 0.807
• rvis_EVS: -0.33
• rvis_percentile_EVS: 30.92

Haploinsufficiency Scores

• pHI: 0.180
• hipred: N
• hipred_score: 0.342
• ghis: 0.550

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.325

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mmp17
• Phenotype: renal/urinary system phenotype; normal phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype

Zebrafish Information Network

• Gene name: mmp17b
• Affected structure: melanocyte
• Phenotype tag: abnormal
• Phenotype quality: spatial pattern

Gene ontology

• Biological process: kidney development;proteolysis;extracellular matrix organization;collagen catabolic process;drinking behavior;positive regulation of catalytic activity
• Cellular component: extracellular space;plasma membrane;extracellular matrix;anchored component of membrane
• Molecular function: metalloendopeptidase activity;enzyme activator activity;zinc ion binding;metalloaminopeptidase activity