MMP2 matrix metallopeptidase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MMP2provided by HGNC
Official Full Name: matrix metallopeptidase 2provided by HGNC
Primary source: HGNC:HGNC:7166
See related: Ensembl:ENSG00000087245 MIM:120360; AllianceGenome:HGNC:7166
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: CLG4; MONA; CLG4A; MMP-2; TBE-1; MMP-II
Summary: This gene is a member of the matrix metalloproteinase (MMP) gene family, that are zinc-dependent enzymes capable of cleaving components of the extracellular matrix and molecules involved in signal transduction. The protein encoded by this gene is a gelatinase A, type IV collagenase, that contains three fibronectin type II repeats in its catalytic site that allow binding of denatured type IV and V collagen and elastin. Unlike most MMP family members, activation of this protein can occur on the cell membrane. This enzyme can be activated extracellularly by proteases, or, intracellulary by its S-glutathiolation with no requirement for proteolytical removal of the pro-domain. This protein is thought to be involved in multiple pathways including roles in the nervous system, endometrial menstrual breakdown, regulation of vascularization, and metastasis. Mutations in this gene have been associated with Winchester syndrome and Nodulosis-Arthropathy-Osteolysis (NAO) syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
Expression: Broad expression in gall bladder (RPKM 482.6), urinary bladder (RPKM 341.0) and 15 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q12.2

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (55478830..55506691)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (61276956..61304813)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (55512742..55540603)

Chromosome 16 - NC_000016.10 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Co-expression of CD44v6 and MMP2 predicts lung metastasis and unfavorable prognosis in osteosarcoma.
Title: Co-expression of CD44v6 and MMP2 predicts lung metastasis and unfavorable prognosis in osteosarcoma.
Impacts of Matrix Metalloproteinase-2 Promoter Genotypes on Breast Cancer Risk.
Title: Impacts of Matrix Metalloproteinase-2 Promoter Genotypes on Breast Cancer Risk.
ERK/MAPK Signalling Pathway Regulates MMP2 through ETS1 in Renal Clear Cell Carcinoma.
Title: ERK/MAPK Signalling Pathway Regulates MMP2 through ETS1 in Renal Clear Cell Carcinoma.
Association of Matrix Metalloproteinase-2 (MMP-2) and MMP-9 Promoter Variants, Their Serum Levels, and Activities with Aortic Valve Calcification (AVC) in a Population from Western Iran.
Title: Association of Matrix Metalloproteinase-2 (MMP-2) and MMP-9 Promoter Variants, Their Serum Levels, and Activities with Aortic Valve Calcification (AVC) in a Population from Western Iran.
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.
Functional relevance of MMP2 promoter variants in gallbladder cancer: A case-control study in an Eastern Indian Population.
Title: Functional relevance of MMP2 promoter variants in gallbladder cancer: A case-control study in an Eastern Indian Population.
Association between Gene Polymorphisms and SNP-SNP Interactions of the Matrix Metalloproteinase 2 Signaling Pathway and the Risk of Vascular Senescence.
Title: Association between Gene Polymorphisms and SNP-SNP Interactions of the Matrix Metalloproteinase 2 Signaling Pathway and the Risk of Vascular Senescence.
Growth differentiation factor-11 upregulates matrix metalloproteinase 2 expression by inducing Snail in human extravillous trophoblast cells.
Title: Growth differentiation factor-11 upregulates matrix metalloproteinase 2 expression by inducing Snail in human extravillous trophoblast cells.
Disruption of CADM1-dependent cell-cell adhesion in human oral squamous cell carcinoma cells results in tumor progression, possibly through an increase of MMP-2 and MMP-9 expression.
Title: Disruption of CADM1-dependent cell-cell adhesion in human oral squamous cell carcinoma cells results in tumor progression, possibly through an increase of MMP-2 and MMP-9 expression.
Matrix metalloproteinase-2 inducing COL1A1 synthesis via integrin alpha promotes invasion and metastasis of cholangiocarcinoma cells.
Title: Matrix metalloproteinase-2 inducing COL1A1 synthesis via integrin alpha Ⅴ promotes invasion and metastasis of cholangiocarcinoma cells.

Submit: New GeneRIF Correction See all GeneRIFs (1783)

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
Multicentric osteolysis, nodulosis, and arthropathy MedGen: CN322832 OMIM: 259600 GeneReviews: Multicentric Osteolysis Nodulosis and Arthropathy	not available

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 surface glycoprotein gp120	env	HIV-1 JRFL Env (gp120) upregulates MMP2 in ARPE-19 and primary human RPE cells and is dependent upon DC-SIGN	PubMed
	env	HIV-1 gp120 interaction with human mannose receptor (hMR) results in increased production of matrix metalloproteinase-2 (MMP-2) in astrocytes	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
Envelope transmembrane glycoprotein gp41	env	Treatment of human glial and neuronal cells with an HIV-1 gp41 peptide (amino acids 583-599) markedly increases the activity of matrix metalloproteinase 2 (MMP-2)	PubMed
Nef	nef	Overexpression of HIV-1 Nef and ALK effect gelatinase activation in astrocytic glioma cells	PubMed
Tat	tat	HIV-1 Tat from AIDS patients with HIV-associated dementia upregulates MMP-2 and MMP-7 release and activation, leading to neurotoxicity	PubMed
	tat	HIV-1 Tat and methamphetamine enhance the release of MMP-1, MMP-2, and uPA from human brain cells	PubMed
	tat	HIV-1 Tat and bFGF synergize to upregulate MMP-2 (type-IV collagenase) secretion and activation in endothelial cells and also synergize in inducing angiogenic Kaposi's sarcoma-like lesions in mice as a result of enhanced MMP-2 expression	PubMed
Vpu	vpu	HIV-1 Vpu-expressing U937 monocytes coculture with LX2 stellate cells to upregulate expression of profibrogenic markers COL-1, PCT, SMA-1, VEGF, and MMP2, which is inhibited by MIF treatment	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

PMC179881P2 (e-PCR)
- UniSTS:271663

D16S2904 (e-PCR)
- UniSTS:153474

G62045 (e-PCR)
- UniSTS:139144

STS-M55593 (e-PCR)
- UniSTS:66965

STS-W44530 (e-PCR)
- UniSTS:19916

WI-18839 (e-PCR)
- UniSTS:9943

RH69324 (e-PCR)
- UniSTS:30687

MMP2_210 (e-PCR)
- UniSTS:277493

Mmp2 (e-PCR), detects polymorphism
- UniSTS:495865

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables fibronectin binding	IEA Inferred from Electronic Annotation more info
enables metalloendopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metalloendopeptidase activity	TAS Traceable Author Statement more info
enables metallopeptidase 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	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in blood vessel maturation	IEA Inferred from Electronic Annotation more info
involved_in bone trabecula formation	IEA Inferred from Electronic Annotation more info
involved_in cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to UV-A	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to amino acid stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to estradiol stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to fluid shear stress	IEA Inferred from Electronic Annotation more info
involved_in cellular response to interleukin-1	IEA Inferred from Electronic Annotation more info
involved_in cellular response to reactive oxygen species	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 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	PubMed
involved_in extracellular matrix organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in face morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in heart development	IEA Inferred from Electronic Annotation more info
involved_in intramembranous ossification	IEA Inferred from Electronic Annotation more info
involved_in luteinization	IEA Inferred from Electronic Annotation more info
involved_in macrophage chemotaxis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of vasoconstriction	IEA Inferred from Electronic Annotation more info
involved_in ovarian follicle development	IEA Inferred from Electronic Annotation more info
involved_in ovulation from ovarian follicle	IEA Inferred from Electronic Annotation more info
involved_in parturition	IEA Inferred from Electronic Annotation more info
involved_in peripheral nervous system axon regeneration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell migration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of vascular associated smooth muscle cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in prostate gland epithelium morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in proteolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in response to activity	IEA Inferred from Electronic Annotation more info
involved_in response to amyloid-beta	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to electrical stimulus	IEA Inferred from Electronic Annotation more info
involved_in response to estrogen	IEA Inferred from Electronic Annotation more info
involved_in response to hydrogen peroxide	IEA Inferred from Electronic Annotation more info
involved_in response to hyperoxia	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to mechanical stimulus	IEA Inferred from Electronic Annotation more info
involved_in response to nicotine	IEA Inferred from Electronic Annotation more info
involved_in response to retinoic acid	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in tissue remodeling	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
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 mitochondrion	IEA Inferred from Electronic Annotation more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in sarcomere	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: 72 kDa type IV collagenase

Names: collagenase type IV-A; matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase); matrix metalloproteinase-2; matrix metalloproteinase-II; neutrophil gelatinase

NP_001121363.1

EC 3.4.24.24

NP_001289437.1

EC 3.4.24.24

NP_001289438.1

EC 3.4.24.24

NP_001289439.1

EC 3.4.24.24

NP_004521.1

EC 3.4.24.24

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_008989.1 RefSeqGene

Range

5030..32523

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001127891.3 → NP_001121363.1 72 kDa type IV collagenase isoform 2

See identical proteins and their annotated locations for NP_001121363.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate 5' terminal exon, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.

Source sequence(s)

AC007336, AK310314, BQ004983, BX357054

Consensus CDS

CCDS45487.1

UniProtKB/Swiss-Prot

P08253

Related

ENSP00000394237.2, ENST00000437642.6

Conserved Domains (5) summary

smart00059
Location:292 → 340

FN2; Fibronectin type 2 domain

cd00094
Location:416 → 610

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:68 → 396

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 ...

pfam00413
Location:68 → 396

Peptidase_M10; Matrixin

pfam01471
Location:20 → 47

PG_binding_1; Putative peptidoglycan binding domain
NM_001302508.1 → NP_001289437.1 72 kDa type IV collagenase isoform 3

See identical proteins and their annotated locations for NP_001289437.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains an alternate 5' terminal exon, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1. Variants 3, 4, and 5 all encode the same isoform (3).

Source sequence(s)

AC007336, AK301536, BQ004983, BX357054, DA579926

Consensus CDS

CCDS76869.1

UniProtKB/Swiss-Prot

P08253

Conserved Domains (4) summary

smart00059
Location:266 → 314

FN2; Fibronectin type 2 domain

cd00094
Location:390 → 584

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:42 → 370

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 ...

pfam00413
Location:42 → 370

Peptidase_M10; Matrixin
NM_001302509.2 → NP_001289438.1 72 kDa type IV collagenase isoform 3

See identical proteins and their annotated locations for NP_001289438.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) contains an alternate 5' terminal exon, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1. Variants 3, 4, and 5 all encode the same isoform (3).

Source sequence(s)

AK301536, BQ004983, BX357054

Consensus CDS

CCDS76869.1

UniProtKB/Swiss-Prot

P08253

Related

ENSP00000444143.1, ENST00000543485.5

Conserved Domains (4) summary

smart00059
Location:266 → 314

FN2; Fibronectin type 2 domain

cd00094
Location:390 → 584

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:42 → 370

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 ...

pfam00413
Location:42 → 370

Peptidase_M10; Matrixin
NM_001302510.2 → NP_001289439.1 72 kDa type IV collagenase isoform 3

See identical proteins and their annotated locations for NP_001289439.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) contains an alternate 5' terminal exon, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1. Variants 3, 4, and 5 all encode the same isoform (3).

Source sequence(s)

AK301536, AU133104, BQ004983, BX357054

Consensus CDS

CCDS76869.1

UniProtKB/Swiss-Prot

P08253

Related

ENSP00000461421.1, ENST00000570308.5

Conserved Domains (4) summary

smart00059
Location:266 → 314

FN2; Fibronectin type 2 domain

cd00094
Location:390 → 584

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:42 → 370

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 ...

pfam00413
Location:42 → 370

Peptidase_M10; Matrixin
NM_004530.6 → NP_004521.1 72 kDa type IV collagenase isoform 1 preproprotein

See identical proteins and their annotated locations for NP_004521.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC007336, AK312711, BP341649, BQ004983, BX357054

Consensus CDS

CCDS10752.1

UniProtKB/Swiss-Prot

B2R6U1, B4DWH3, E9PE45, P08253, Q9UCJ8

Related

ENSP00000219070.4, ENST00000219070.9

Conserved Domains (4) summary

smart00059
Location:342 → 390

FN2; Fibronectin type 2 domain

cd00094
Location:466 → 660

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:118 → 446

Peptidase_M10; Matrixin

pfam01471
Location:70 → 97

PG_binding_1; Putative peptidoglycan binding domain