MMP13 matrix metallopeptidase 13 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MMP13provided by HGNC
Official Full Name: matrix metallopeptidase 13provided by HGNC
Primary source: HGNC:HGNC:7159
See related: Ensembl:ENSG00000137745 MIM:600108; AllianceGenome:HGNC:7159
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: CLG3; MDST; MANDP1; MMP-13
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 cleaves type II collagen more efficiently than types I and III. It may be involved in articular cartilage turnover and cartilage pathophysiology associated with osteoarthritis. Mutations in this gene are associated with metaphyseal anadysplasia. This gene is part of a cluster of MMP genes on chromosome 11. [provided by RefSeq, Jan 2016]
Expression: Low expression observed in reference dataset 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 (102942995..102955732, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (102946765..102959501, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (102813724..102826461, 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?

MMP13 Expression and Activity Suggest Its Role in Bone Resorption in Ameloblastomas.
Title: MMP13 Expression and Activity Suggest Its Role in Bone Resorption in Ameloblastomas.
TPX2 upregulates MMP13 to promote the progression of lipopolysaccharide-induced osteoarthritis.
Title: TPX2 upregulates MMP13 to promote the progression of lipopolysaccharide-induced osteoarthritis.
Association of Clinicopathological Factors With MMP13 (rs2252070) Gene Polymorphism in Swedish Patients With Colorectal Cancer.
Title: Association of Clinicopathological Factors With MMP13 (rs2252070) Gene Polymorphism in Swedish Patients With Colorectal Cancer.
Human Host Defense Peptide LL-37 Suppresses TNFalpha-Mediated Matrix Metalloproteinases MMP9 and MMP13 in Human Bronchial Epithelial Cells.
Title: Human Host Defense Peptide LL-37 Suppresses TNFα-Mediated Matrix Metalloproteinases MMP9 and MMP13 in Human Bronchial Epithelial Cells.
Inhibiting MMP13 Attenuates Deep Vein Thrombosis in a Mouse Model by Reducing the Expression of Pdpn.
Title: Inhibiting MMP13 Attenuates Deep Vein Thrombosis in a Mouse Model by Reducing the Expression of Pdpn.
MMP1, MMP9, MMP11 and MMP13 in melanoma and its metastasis - key points in understanding the mechanisms and celerity of tumor dissemination.
Title: MMP1, MMP9, MMP11 and MMP13 in melanoma and its metastasis - key points in understanding the mechanisms and celerity of tumor dissemination.
Breast cancer malignancy is governed by regulation of the macroH2A2/TM4SF1 axis, the AKT/NF-kappaB pathway, and elevated MMP13 expression.
Title: Breast cancer malignancy is governed by regulation of the macroH2A2/TM4SF1 axis, the AKT/NF-κB pathway, and elevated MMP13 expression.
The Mediating Role of miR-451/ETV4/MMP13 Signaling Axis on Epithelialmesenchymal Transition in Promoting Non-small Cell Lung Cancer Progression.
Title: The Mediating Role of miR-451/ETV4/MMP13 Signaling Axis on Epithelialmesenchymal Transition in Promoting Non-small Cell Lung Cancer Progression.
Disrupting mechanical homeostasis promotes matrix metalloproteinase-13 mediated processing of neuron glial antigen 2 in mandibular condylar cartilage.
Title: Disrupting mechanical homeostasis promotes matrix metalloproteinase-13 mediated processing of neuron glial antigen 2 in mandibular condylar cartilage.
Pan-cancer analysis reveals the associations between MMP13 high expression and carcinogenesis and its value as a serum diagnostic marker.
Title: Pan-cancer analysis reveals the associations between MMP13 high expression and carcinogenesis and its value as a serum diagnostic marker.

Submit: New GeneRIF Correction See all GeneRIFs (316)

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

Associated conditions

Description	Tests
Metaphyseal chondrodysplasia, Spahr type MedGen: C0432225 OMIM: 250400 GeneReviews: Not available	not available
Spondyloepimetaphyseal dysplasia, Missouri type MedGen: C1865832 OMIM: 602111 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
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

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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Replication interactions

Interaction	Pubs
Knockdown of matrix metallopeptidase 13 (collagenase 3; MMP13) by siRNA has both activating and inhibiting activities on HIV-1 replication in HeLa P4/R5 cells, suggesting a regulatory role in HIV replication	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC64850P1 (e-PCR)
- UniSTS:273422

D11S3989 (e-PCR)
- UniSTS:81949

GDB:632948 (e-PCR)
- UniSTS:158504

GDB:632950 (e-PCR)
- UniSTS:158505

NoName (e-PCR)
- UniSTS:481168

PMC125702P1 (e-PCR)
- UniSTS:270507

PMC125702P2 (e-PCR)
- UniSTS:270508

NoName (e-PCR)
- UniSTS:482030

STS-X75308 (e-PCR)
- UniSTS:33275

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables collagen binding	IDA Inferred from Direct Assay more info	PubMed
enables endopeptidase activity	IDA Inferred from Direct Assay 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	TAS Traceable Author Statement more info
enables serine-type endopeptidase activity	TAS Traceable Author Statement more info
enables zinc ion binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in bone mineralization	IEA Inferred from Electronic Annotation more info
involved_in bone morphogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in collagen catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in collagen catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in collagen catabolic process	TAS Traceable Author Statement more info
involved_in endochondral ossification	IEA Inferred from Electronic Annotation more info
involved_in extracellular matrix disassembly	IMP Inferred from Mutant Phenotype 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 growth plate cartilage development	IEA Inferred from Electronic Annotation more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info
involved_in response to amyloid-beta	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
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

General protein information

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Preferred Names: collagenase 3

Names: matrix metalloproteinase 13 (collagenase 3)

NP_002418.1

EC 3.4.24.-

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_021404.1 RefSeqGene

Range

5003..17740

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002427.4 → NP_002418.1 collagenase 3 preproprotein

See identical proteins and their annotated locations for NP_002418.1

Status: REVIEWED

Source sequence(s)

AK222748, AK292211, CA413743, X75308

Consensus CDS

CCDS8324.1

UniProtKB/Swiss-Prot

A8K846, B2RCZ3, P45452, Q6NWN6

UniProtKB/TrEMBL

Q53H33

Related

ENSP00000260302.3, ENST00000260302.8

Conserved Domains (3) summary

cd00094
Location:281 → 471

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:112 → 267

Peptidase_M10; Matrixin

pfam01471
Location:32 → 91

PG_binding_1; Putative peptidoglycan binding domain