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.

• not_specified (17 variants)

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. These statistics are base on transcript: NM_000024302.5. 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						0
missense			17			17
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	17	0	0

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