MMP12

matrix metallopeptidase 12, the group of M10 matrix metallopeptidases

Basic information

Region (hg38): 11:102862735-102874982

Links

ENSG00000262406 ∙ NCBI:4321 ∙ OMIM:601046 ∙ HGNC:7158 ∙ Uniprot:P39900 ∙ 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 MMP12 gene.

• Inborn genetic diseases (13 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MMP12 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				2		2
missense			13			13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	2	0

Variants in MMP12

This is a list of pathogenic ClinVar variants found in the MMP12 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-102864194-A-T		not specified	Uncertain significance (Oct 12, 2021)
11-102864224-G-C		not specified	Uncertain significance (Jan 24, 2024)
11-102864225-G-C		not specified	Uncertain significance (Aug 08, 2023)
11-102865888-G-C		not specified	Uncertain significance (Dec 06, 2022)
11-102866336-T-C		not specified	Uncertain significance (Dec 28, 2022)
11-102867284-A-G			Likely benign (Jun 01, 2022)
11-102868008-A-G			Likely benign (Dec 01, 2022)
11-102871854-C-T		not specified	Uncertain significance (Nov 09, 2023)
11-102871866-G-C		not specified	Uncertain significance (Jan 31, 2022)
11-102871878-C-T		not specified	Uncertain significance (Dec 13, 2021)
11-102871899-C-A		not specified	Uncertain significance (Jan 07, 2022)
11-102871900-G-A		not specified	Uncertain significance (Dec 26, 2023)
11-102871905-G-T		not specified	Uncertain significance (Feb 16, 2023)
11-102871906-C-A		not specified	Uncertain significance (Feb 15, 2023)
11-102871914-A-G		not specified	Uncertain significance (Feb 01, 2023)
11-102872943-C-T		not specified	Uncertain significance (Jun 24, 2022)
11-102873059-T-G		not specified	Uncertain significance (Mar 22, 2023)
11-102874855-T-C		not specified	Uncertain significance (Feb 15, 2023)
11-102874885-G-A		not specified	Uncertain significance (Dec 26, 2023)
11-102874889-G-A		not specified	Uncertain significance (Jan 24, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in tissue injury and remodeling. Has significant elastolytic activity. Can accept large and small amino acids at the P1' site, but has a preference for leucine. Aromatic or hydrophobic residues are preferred at the P1 site, with small hydrophobic residues (preferably alanine) occupying P3.
• Pathway: Matrix Metalloproteinases;Spinal Cord Injury;TGF-beta Signaling Pathway;Collagen degradation;Extracellular matrix organization;Degradation of the extracellular matrix;Urokinase-type plasminogen activator (uPA) and uPAR-mediated signaling (Consensus)

Recessive Scores

• pRec: 0.668

Haploinsufficiency Scores

• pHI: 0.159

Mouse Genome Informatics

• Gene name: Mmp12
• Phenotype: integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); immune system phenotype; homeostasis/metabolism phenotype; respiratory system phenotype; reproductive system phenotype; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan)

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;proteolysis;protein import into nucleus;extracellular matrix disassembly;extracellular matrix organization;collagen catabolic process;wound healing, spreading of epidermal cells;positive regulation of transcription by RNA polymerase II;regulation of defense response to virus by host;positive regulation of epithelial cell proliferation involved in wound healing;elastin catabolic process;negative regulation of type I interferon-mediated signaling pathway;positive regulation of type I interferon-mediated signaling pathway;cellular response to virus;positive regulation of interferon-alpha secretion;negative regulation of endothelial cell-matrix adhesion via fibronectin
• Cellular component: extracellular region;extracellular space;nucleus;cytoplasm;extracellular matrix
• Molecular function: core promoter binding;endopeptidase activity;metalloendopeptidase activity;serine-type endopeptidase activity;calcium ion binding;collagen binding;zinc ion binding;sequence-specific DNA binding