MMP12 matrix metallopeptidase 12 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MMP12provided by HGNC
Official Full Name: matrix metallopeptidase 12provided by HGNC
Primary source: HGNC:HGNC:7158
See related: Ensembl:ENSG00000262406 MIM:601046; AllianceGenome:HGNC:7158
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ME; HME; MME; MMP-12
Summary: This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease degrades soluble and insoluble elastin. This gene may play a role in aneurysm formation and mutations in this gene are associated with lung function and chronic obstructive pulmonary disease (COPD). This gene is part of a cluster of MMP genes on chromosome 11. [provided by RefSeq, Jan 2016]
Expression: Biased expression in appendix (RPKM 25.3), urinary bladder (RPKM 15.0) and 7 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q22.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (102862736..102874982, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (102866505..102878751, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (102733467..102745712, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SNP-SNP positive interaction between MMP2 and MMP12 increases the risk of COPD.
Title: SNP-SNP positive interaction between MMP2 and MMP12 increases the risk of COPD.
Integrated Exploration of Epigenetic Dysregulation Reveals a Stemness/EMT Subtype and MMP12 Linked to the Progression and Prognosis in Hepatocellular Carcinoma.
Title: Integrated Exploration of Epigenetic Dysregulation Reveals a Stemness/EMT Subtype and MMP12 Linked to the Progression and Prognosis in Hepatocellular Carcinoma.
HOXB9 promotes laryngeal squamous cell carcinoma progression by upregulating MMP12.
Title: HOXB9 promotes laryngeal squamous cell carcinoma progression by upregulating MMP12.
MTOR Suppresses Cigarette Smoke-Induced Airway Inflammation and MMP12 Expression in Macrophage in Chronic Obstructive Pulmonary Disease.
Title: MTOR Suppresses Cigarette Smoke-Induced Airway Inflammation and MMP12 Expression in Macrophage in Chronic Obstructive Pulmonary Disease.
Prognostic and clinicopathological significance of MMP12 in various cancers: a meta-analysis and bioinformatics analysis.
Title: Prognostic and clinicopathological significance of MMP12 in various cancers: a meta-analysis and bioinformatics analysis.
Matrix metalloproteinase -12: A marker of preeclampsia?
Title: Matrix metalloproteinase -12: A marker of preeclampsia?
DRP1 contributes to head and neck cancer progression and induces glycolysis through modulated FOXM1/MMP12 axis.
Title: DRP1 contributes to head and neck cancer progression and induces glycolysis through modulated FOXM1/MMP12 axis.
Circulating MMP-12 as Potential Biomarker in Evaluating Disease Severity and Efficacy of Sublingual Immunotherapy in Allergic Rhinitis.
Title: Circulating MMP-12 as Potential Biomarker in Evaluating Disease Severity and Efficacy of Sublingual Immunotherapy in Allergic Rhinitis.
Analytical Study Of Salivary Mmp-12 Expression In Oral Submucous Fibrosis.
Title: Analytical Study Of Salivary Mmp-12 Expression In Oral Submucous Fibrosis.
Matrix metalloproteinase 12 (MMP12) as an adverse prognostic biomarker of vascular invasion in hepatic cell carcinoma.
Title: Matrix metalloproteinase 12 (MMP12) as an adverse prognostic biomarker of vascular invasion in hepatic cell carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (157)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-Wide Association Study of CSF Levels of 59 Alzheimer's Disease Candidate Proteins: Significant Associations with Proteins Involved in Amyloid Processing and Inflammation. EBI GWAS Catalog EBI GWAS CatalogPubMed
Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope transmembrane glycoprotein gp41	env	A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 upregulates the expression of matrix metallopeptidase 12 (MMP12) in peptide-treated PBMCs	PubMed
Tat	tat	Microarray analysis indicates HIV-1 Tat-induced upregulation of matrix metallopeptidase 12 (MMP12) in primary human brain microvascular endothelial cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MMP12 (e-PCR)
- UniSTS:67601

NoName (e-PCR)
- UniSTS:480478

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables collagen binding	IPI Inferred from Physical Interaction more info	PubMed
enables core promoter sequence-specific DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables endopeptidase activity	TAS Traceable Author Statement more info	PubMed
enables metalloendopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metalloendopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables metalloendopeptidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables metalloendopeptidase activity	TAS Traceable Author Statement more info	PubMed
enables sequence-specific DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables serine-type endopeptidase activity	TAS Traceable Author Statement more info
enables zinc ion binding	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in bronchiole development	IEA Inferred from Electronic Annotation more info
involved_in cellular response to virus	IEA Inferred from Electronic Annotation more info
involved_in collagen catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in collagen catabolic process	TAS Traceable Author Statement more info
involved_in elastin catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in extracellular matrix disassembly	TAS Traceable Author Statement more info
involved_in extracellular matrix organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in lung alveolus development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of endothelial cell-matrix adhesion via fibronectin	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of type I interferon-mediated signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of epithelial cell proliferation involved in wound healing	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interferon-alpha production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of type I interferon-mediated signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in protein import into nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proteolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in proteolysis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of defense response to virus by host	IEA Inferred from Electronic Annotation more info
involved_in response to amyloid-beta	TAS Traceable Author Statement more info	PubMed
involved_in wound healing, spreading of epidermal cells	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular matrix	IEA Inferred from Electronic Annotation more info
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IMP Inferred from Mutant Phenotype more info	PubMed
located_in nucleus	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: macrophage metalloelastase

Names: matrix metallopeptidase 12 (macrophage elastase); matrix metalloproteinase 12 (macrophage elastase)

NP_002417.2

EC 3.4.24.65

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_032936.1 RefSeqGene

Range

5053..17299

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002426.6 → NP_002417.2 macrophage metalloelastase preproprotein

See identical proteins and their annotated locations for NP_002417.2

Status: REVIEWED

Source sequence(s)

AI352562, BC112301

Consensus CDS

CCDS73375.1

UniProtKB/Swiss-Prot

B2R9X8, B7ZLF6, P39900, Q2M1L9

Related

ENSP00000458585.1, ENST00000571244.3

Conserved Domains (3) summary

cd00094
Location:279 → 470

HX; Hemopexin-like repeats.; Hemopexin is a heme-binding protein that transports heme to the liver. Hemopexin-like repeats occur in vitronectin and some matrix metalloproteinases family (matrixins). The HX repeats of some matrixins bind tissue inhibitor of ...

pfam00413
Location:109 → 263

Peptidase_M10; Matrixin

pfam01471
Location:28 → 87

PG_binding_1; Putative peptidoglycan binding domain