MMP28

protein-coding

matrix metallopeptidase 28, the group of M10 matrix metallopeptidases

Gene summary

Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix for both normal physiological processes, such as embryonic development, reproduction and tissue remodeling, and disease processes, such as asthma and metastasis. This gene encodes a secreted enzyme that degrades casein. Its expression pattern suggests that it plays a role in tissue homeostasis and in wound repair. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]

MANE transcript

NM_024302.5

Inheritance

—

ClinVar variants

U:28

Top phenotype

—

Max pathogenic AF

—

Genomic locus

chr17:35,756,249-35,795,707

External References & Databases

Ensembl (ENSG00000271447)

Transcript & Mutation Effects

hg38 • Region Span ~39.5 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MMP28 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 20

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_024302.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar			1
missense			26 clinvar			26
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	28	0	0	28

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 76 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_024302.5	RefSeq	NP_077278.1	8	MANE Select
ENST00000605424.6	Ensembl	ENSP00000473853.1	8	MANE Select
NM_001032278.3	RefSeq	NP_001027449.1	3	Standard
NM_032950.4	RefSeq	NP_116568.1	8	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Matrix Metalloproteinases

Biological Process

proteolysis
negative regulation of macrophage chemotaxis
extracellular matrix organization
collagen catabolic process

Molecular Function

metalloendopeptidase activity
zinc ion binding

Cellular Component

extracellular space
cytoplasm
extracellular matrix
collagen-containing extracellular matrix

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Can degrade casein. Could play a role in tissues homeostasis and repair.;

Recessive Scores

pRec: 0.204

Intolerance Scores

RVIS EVS: 0.21
RVIS percentile EVS: 67.72

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.469

Gene Damage Prediction

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