MMP9 matrix metallopeptidase 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MMP9provided by HGNC
Official Full Name: matrix metallopeptidase 9provided by HGNC
Primary source: HGNC:HGNC:7176
See related: Ensembl:ENSG00000100985 MIM:120361; AllianceGenome:HGNC:7176
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: GELB; CLG4B; MMP-9; MANDP2
Summary: Proteins of the matrix metalloproteinase (MMP) 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. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The enzyme encoded by this gene degrades type IV and V collagens. Studies in rhesus monkeys suggest that the enzyme is involved in IL-8-induced mobilization of hematopoietic progenitor cells from bone marrow, and murine studies suggest a role in tumor-associated tissue remodeling. [provided by RefSeq, Jul 2008]
Expression: Biased expression in bone marrow (RPKM 144.9), lymph node (RPKM 49.8) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.12

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (46008908..46016561)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (47744921..47752589)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (44637547..44645200)

Chromosome 20 - NC_000020.11 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?

Complement regulatory protein CD46 promotes bladder cancer metastasis through activation of MMP9.
Title: Complement regulatory protein CD46 promotes bladder cancer metastasis through activation of MMP9.
Knockdown of PRDX2 Inhibits the Proliferation, Growth, Migration, Invasion, and MMP9 Activity of Ewing's Sarcoma Cells Cultured In Vitro.
Title: Knockdown of PRDX2 Inhibits the Proliferation, Growth, Migration, Invasion, and MMP9 Activity of Ewing's Sarcoma Cells Cultured In Vitro.
Interaction of MMP-9 in the active phase of Graves' disease with and without ophthalmopathy.
Title: Interaction of MMP-9 in the active phase of Graves' disease with and without ophthalmopathy.
Preliminary investigation of MMP8 (rs11225395) and MMP9 (rs3787268) polymorphisms association with breast cancer risk in pashtun women of Pakistan.
Title: Preliminary investigation of MMP8 (rs11225395) and MMP9 (rs3787268) polymorphisms association with breast cancer risk in pashtun women of Pakistan.
JNK2-MMP-9 axis facilitates the progression of intracranial aneurysms.
Title: JNK2-MMP-9 axis facilitates the progression of intracranial aneurysms.
Silencing HE4 alleviates the renal fibrosis in lupus nephritis mice by regulating the C3/MMPs/prss axis.
Title: Silencing HE4 alleviates the renal fibrosis in lupus nephritis mice by regulating the C3/MMPs/prss axis.
Impacts of Matrix Metalloproteinase-9 Promoter Genotypes on Asthma Risk.
Title: Impacts of Matrix Metalloproteinase-9 Promoter Genotypes on Asthma Risk.
Msi1 promotes breast cancer metastasis by regulating invadopodia-mediated extracellular matrix degradation via the Timp3-Mmp9 pathway.
Title: Msi1 promotes breast cancer metastasis by regulating invadopodia-mediated extracellular matrix degradation via the Timp3-Mmp9 pathway.
Desmoglein-2 Affects Vascular Function in Moyamoya Disease by Interacting with MMP-9 and Influencing PI3K Signaling.
Title: Desmoglein-2 Affects Vascular Function in Moyamoya Disease by Interacting with MMP-9 and Influencing PI3K Signaling.
AGEs induce MMP-9 promoter demethylation through the GADD45alpha-mediated BER pathway to promote breast cancer metastasis in patients with diabetes.
Title: AGEs induce MMP-9 promoter demethylation through the GADD45α-mediated BER pathway to promote breast cancer metastasis in patients with diabetes.

Submit: New GeneRIF Correction See all GeneRIFs (2938)

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 anadysplasia 2 MedGen: C2751322 OMIM: 613073 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 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
HIV-1 infection significantly decreases MMP9 in blood plasma clinical samples	PubMed
HIV-1 infection in macrophages decreases interactions between Cathepsin B and MMP9	PubMed
Knockdown of matrix metallopeptidase 9 (gelatinase B; 92kDa gelatinase; 92kDa type IV collagenase; MMP9) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 JRFL Env (gp120) upregulates MMP9 in ARPE-19 and primary human RPE cells and is dependent upon DC-SIGN	PubMed
	env	HIV-1 gp120-mediated binding of human mannose receptor induces MMP-9 expression in vaginal epithelial cells	PubMed
	env	Inhibition of NRF2 by siRNA results in increased NOX2, NFkappaB (p65/p50), TNF-alpha, and MMP-9 proteins in astrocytes exposed to HIV-1 gp120	PubMed
	env	Matrix metalloproteinases MMP2 and MMP9 participate in the maturation process of cleavage and activation of IL-1beta based on the intracerebroventricular injection of the HIV-1 envelope glycoprotein gp120	PubMed
	env	Concomitant incubation with gp120 and methamphetamine stimulates LPS-induced MMP-9 expression and biological activity in monocyte-derived macrophages	PubMed
	env	T- and M-tropic HIV-1 gp120 proteins are able to induce the secretion of matrix metalloproteinase 9 (MMP-9) by T cells or glioma cells; MMP-9 is an extracellular metalloproteinase present in cerebrospinal fluid of patients with HIV-1	PubMed
Nef	nef	Overexpression of HIV-1 Nef and ALK effect gelatinase activation in astrocytic glioma cells	PubMed
	nef	MMP-9 activity in the cerebrospinal fluid (CSF) samples from rats is induced by injecting the rats intracisternally with recombinant HIV-1 Nef protein, but not after injection of heat-treated Nef, HIV-1 gp120, HIV-1 gp160 or PBS	PubMed
Tat	tat	The basic domain (49RKKRRQRRR57) of HIV-1 Tat is essential for enhancing the FGF-induced activation of ERK, Rho-A, and MLC2 and upregulates the expression of MMP-9 in human podocytes	PubMed
	tat	HIV-1 Tat protein increases the permeability of primary human brain micro vascular endothelial cells by both inhibiting occludin expression and cleaving occludin via matrix metalloproteinase-9	PubMed
	tat	HIV-1 Tat-induced MAPK (ERK, JNK, and p38) activation is required for MMP-9 expression in human astrocytes	PubMed
	tat	HIV-1 Tat-mediated upregulation of MMP-9 in human astrocytes results from NF-kappaB activation pathway	PubMed
	tat	HIV-1 Tat upregulates the expression of MMP-9 in monocytes in an IL-1beta, TNF-alpha, and tyrosine phosphatase dependent manner	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

Mmp9 (e-PCR), detects polymorphism
- UniSTS:498480

GDB:512297 (e-PCR)
- UniSTS:157524

PMC152639P2 (e-PCR)
- UniSTS:271235

WI-7659 (e-PCR)
- UniSTS:31877

D20S838 (e-PCR), detects polymorphism
- UniSTS:36766

RH11668 (e-PCR)
- UniSTS:88486

PMC97903P1 (e-PCR)
- UniSTS:273659

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables collagen binding	TAS Traceable Author Statement more info	PubMed
enables endopeptidase activity	EXP Inferred from Experiment more info	PubMed
enables endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction 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 metallopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables peptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables serine-type endopeptidase activity	EXP Inferred from Experiment more info	PubMed
enables serine-type endopeptidase activity	TAS Traceable Author Statement more info
enables zinc ion binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in cell migration	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cell migration	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to UV-A	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to lipopolysaccharide	TAS Traceable Author Statement more info	PubMed
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 embryo implantation	IEA Inferred from Electronic Annotation more info
involved_in endodermal cell differentiation	IEP Inferred from Expression Pattern more info	PubMed
involved_in ephrin receptor signaling pathway	TAS Traceable Author Statement more info
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 macrophage differentiation	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cation channel activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of epithelial cell differentiation involved in kidney development	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of intrinsic apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA binding	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of epidermal growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of keratinocyte migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of receptor binding	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of release of cytochrome c from mitochondria	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of vascular associated smooth muscle cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proteolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of neuroinflammatory response	TAS Traceable Author Statement more info	PubMed
involved_in response to amyloid-beta	ISS Inferred from Sequence or Structural Similarity more info
involved_in skeletal system development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	HDA more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
located_in ficolin-1-rich granule lumen	TAS Traceable Author Statement more info
located_in tertiary granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: matrix metalloproteinase-9

Names: macrophage gelatinase; matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase); matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase); type V collagenase

NP_004985.2

EC 3.4.24.35

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_011468.1 RefSeqGene

Range

5001..12654

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004994.3 → NP_004985.2 matrix metalloproteinase-9 preproprotein

See identical proteins and their annotated locations for NP_004985.2

Status: REVIEWED

Source sequence(s)

AW468235, BC006093, CN288579, J05070

Consensus CDS

CCDS13390.1

UniProtKB/Swiss-Prot

B2R7V9, P14780, Q3LR70, Q8N725, Q9H4Z1, Q9UCJ9, Q9UCL1, Q9UDK2

UniProtKB/TrEMBL

B7Z507

Related

ENSP00000361405.3, ENST00000372330.3

Conserved Domains (6) summary

smart00059
Location:281 → 329

FN2; Fibronectin type 2 domain

cd00094
Location:514 → 704

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 ...

cd04278
Location:115 → 444

ZnMc_MMP; Zinc-dependent metalloprotease, matrix metalloproteinase (MMP) sub-family. MMPs are responsible for a great deal of pericellular proteolysis of extracellular matrix and cell surface molecules, playing crucial roles in morphogenesis, cell fate ...

pfam00040
Location:347 → 388

fn2; Fibronectin type II domain

pfam00413
Location:115 → 444

Peptidase_M10; Matrixin

pfam04886
Location:472 → 506

PT; PT repeat