MMP28

matrix metallopeptidase 28, the group of M10 matrix metallopeptidases

Basic information

Region (hg38): 17:35756249-35795707

Links

ENSG00000271447 ∙ NCBI:79148 ∙ OMIM:608417 ∙ HGNC:14366 ∙ Uniprot:Q9H239 ∙ 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 MMP28 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MMP28 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						0
missense			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	0	0

Variants in MMP28

This is a list of pathogenic ClinVar variants found in the MMP28 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-35764069-G-A		not specified	Uncertain significance (Aug 28, 2021)
17-35764178-G-A		not specified	Uncertain significance (Mar 15, 2024)
17-35764218-G-C		not specified	Uncertain significance (Aug 02, 2021)
17-35764307-T-C		not specified	Uncertain significance (Jun 11, 2021)
17-35764449-C-T		not specified	Uncertain significance (Oct 05, 2021)
17-35764479-C-T		not specified	Uncertain significance (Sep 01, 2021)
17-35764604-G-C		not specified	Uncertain significance (Aug 10, 2021)
17-35767889-C-T		not specified	Uncertain significance (Dec 13, 2023)
17-35768295-T-C		not specified	Uncertain significance (Jan 17, 2025)
17-35768365-C-T		not specified	Uncertain significance (Feb 22, 2023)
17-35779017-G-A		not specified	Uncertain significance (Sep 23, 2023)
17-35779050-G-T		not specified	Uncertain significance (May 13, 2024)
17-35779062-C-G		not specified	Uncertain significance (Jan 23, 2025)
17-35779073-G-A		not specified	Uncertain significance (Apr 05, 2023)
17-35779074-C-T		not specified	Uncertain significance (Aug 12, 2021)
17-35779280-T-G		not specified	Uncertain significance (Jan 08, 2024)
17-35779283-G-A		not specified	Uncertain significance (Mar 01, 2025)
17-35795275-C-G		not specified	Uncertain significance (Jan 19, 2024)
17-35795361-C-G		not specified	Uncertain significance (Nov 09, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Can degrade casein. Could play a role in tissues homeostasis and repair.
• Pathway: Matrix Metalloproteinases (Consensus)

Recessive Scores

• pRec: 0.204

Intolerance Scores

• rvis_EVS: 0.21
• rvis_percentile_EVS: 67.72

Haploinsufficiency Scores

• pHI: 0.0803
• hipred: N
• hipred_score: 0.180

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.469

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mmp28
• Phenotype: immune system phenotype; hematopoietic system phenotype; cellular phenotype

Gene ontology

• Biological process: proteolysis;negative regulation of macrophage chemotaxis;extracellular matrix organization;collagen catabolic process
• Cellular component: extracellular space;cytoplasm;extracellular matrix;collagen-containing extracellular matrix
• Molecular function: metalloendopeptidase activity;zinc ion binding