MMP8 matrix metallopeptidase 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MMP8provided by HGNC
Official Full Name: matrix metallopeptidase 8provided by HGNC
Primary source: HGNC:HGNC:7175
See related: Ensembl:ENSG00000118113 MIM:120355; AllianceGenome:HGNC:7175
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: HNC; CLG1; MMP-8; PMNL-CL
Summary: This gene encodes a member of the matrix metalloproteinase (MMP) family of proteins. These proteins are involved in the breakdown of extracellular matrix in embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Proteolysis at different sites on this protein results in multiple active forms of the enzyme with distinct N-termini. This protein functions in the degradation of type I, II and III collagens. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Expression: Restricted expression toward bone marrow (RPKM 202.1) See more
Orthologs: mouse all
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Genomic context

Location:: 11q22.2

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (102711796..102724954, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (102713966..102727115, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (102582527..102595685, 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
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?

Impact of Matrix Metalloproteinase-8 Polymorphisms on Nasopharyngeal Carcinoma Risk.
Title: Impact of Matrix Metalloproteinase-8 Polymorphisms on Nasopharyngeal Carcinoma Risk.
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.
The adhesion-GPCR ADGRF5 fuels breast cancer progression by suppressing the MMP8-mediated antitumorigenic effects.
Title: The adhesion-GPCR ADGRF5 fuels breast cancer progression by suppressing the MMP8-mediated antitumorigenic effects.
Comparative evaluation of semaphorin-4D, peptidylarginine deiminase-2, and matrix metalloproteinase-8 levels of gingival crevicular fluid in periodontally healthy and Stage III periodontitis smoker and non-smoker patients before and after non-surgical periodontal therapy.
Title: Comparative evaluation of semaphorin-4D, peptidylarginine deiminase-2, and matrix metalloproteinase-8 levels of gingival crevicular fluid in periodontally healthy and Stage III periodontitis smoker and non-smoker patients before and after non-surgical periodontal therapy.
Circulating myeloid-derived MMP8 in stress susceptibility and depression.
Title: Circulating myeloid-derived MMP8 in stress susceptibility and depression.
Comparing the activity level of salivary matrix metalloproteinase-8 in patients with diabetes and moderate to severe chronic generalized periodontitis.
Title: Comparing the activity level of salivary matrix metalloproteinase-8 in patients with diabetes and moderate to severe chronic generalized periodontitis.
Inhibition of MMP8 effectively alleviates manic-like behavior and reduces neuroinflammation by modulating astrocytic CEBPD.
Title: Inhibition of MMP8 effectively alleviates manic-like behavior and reduces neuroinflammation by modulating astrocytic CEBPD.
Correlations between different protein species of oral rinse MMP-8 and patient-related factors.
Title: Correlations between different protein species of oral rinse MMP-8 and patient-related factors.
Association study for the role of MMP8 gene polymorphisms in Colorectal cancer susceptibility.
Title: Association study for the role of MMP8 gene polymorphisms in Colorectal cancer susceptibility.
The roles of MMP8/MMP10 polymorphisms in ischemic stroke susceptibility.
Title: The roles of MMP8/MMP10 polymorphisms in ischemic stroke susceptibility.

Submit: New GeneRIF Correction See all GeneRIFs (204)

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
Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:197833 (e-PCR)
- UniSTS:155956

NoName (e-PCR)
- UniSTS:482163

D11S4330 (e-PCR)
- UniSTS:53665

MMP8_926 (e-PCR)
- UniSTS:277494

MMP8_V216 (e-PCR)
- UniSTS:277494

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables endopeptidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables metalloendopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metalloendopeptidase activity	TAS Traceable Author Statement more info
enables peptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables serine-type endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables serine-type endopeptidase activity	TAS Traceable Author Statement more info
enables tumor necrosis factor binding	IDA Inferred from Direct Assay more info	PubMed
enables zinc ion binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to lipopolysaccharide	ISS Inferred from Sequence or Structural Similarity 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 endodermal cell differentiation	IEP Inferred from Expression Pattern 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
acts_upstream_of positive regulation of microglial cell activation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of neuroinflammatory response	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of tumor necrosis factor production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of tumor necrosis factor-mediated signaling pathway	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in proteolysis	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in specific 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: neutrophil collagenase

Names: PMN leukocyte collagenase; PMNL collagenase; collagenase 2; matrix metalloproteinase 8 (neutrophil collagenase); matrix metalloproteinase-8

NP_001291370.1

EC 3.4.24.34

NP_001291371.1

EC 3.4.24.34

NP_002415.1

EC 3.4.24.34

XP_011541136.1

EC 3.4.24.34

XP_011541137.1

EC 3.4.24.34

XP_047282921.1

EC 3.4.24.34

XP_047282922.1

EC 3.4.24.34

XP_054224811.1

EC 3.4.24.34

XP_054224812.1

EC 3.4.24.34

XP_054224813.1

EC 3.4.24.34

XP_054224814.1

EC 3.4.24.34

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_012101.1 RefSeqGene

Range

5001..18159

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001304441.2 → NP_001291370.1 neutrophil collagenase isoform 2

See identical proteins and their annotated locations for NP_001291370.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus compared to isoform 1. Variants 2 and 3 encode the same isoform (2).

Source sequence(s)

AK303388, AL597614, AP000647, AW468376, BC144094, BG213446, J05556

UniProtKB/TrEMBL

B4E0I2

Conserved Domains (4) summary

cd00094
Location:253 → 441

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:84 → 239

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:84 → 239

Peptidase_M10; Matrixin

pfam01471
Location:8 → 63

PG_binding_1; Putative peptidoglycan binding domain
NM_001304442.2 → NP_001291371.1 neutrophil collagenase isoform 2

See identical proteins and their annotated locations for NP_001291371.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus compared to isoform 1. Variants 2 and 3 encode the same isoform (2).

Source sequence(s)

AL597614, AP000647, AW468376, BC144094, BG218770, J05556

UniProtKB/TrEMBL

B4E0I2

Conserved Domains (4) summary

cd00094
Location:253 → 441

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:84 → 239

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:84 → 239

Peptidase_M10; Matrixin

pfam01471
Location:8 → 63

PG_binding_1; Putative peptidoglycan binding domain
NM_002424.3 → NP_002415.1 neutrophil collagenase isoform 1 preproprotein

See identical proteins and their annotated locations for NP_002415.1

Status: REVIEWED

Description

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

Source sequence(s)

AP000647, BC074988, DW009698

Consensus CDS

CCDS8320.1

UniProtKB/Swiss-Prot

P22894, Q45F99

UniProtKB/TrEMBL

A8K9E4

Related

ENSP00000236826.3, ENST00000236826.8

Conserved Domains (4) summary

cd00094
Location:276 → 464

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:107 → 262

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:107 → 262

Peptidase_M10; Matrixin

pfam01471
Location:29 → 86

PG_binding_1; Putative peptidoglycan binding domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

102711796..102724954 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011542834.3 → XP_011541136.1 neutrophil collagenase isoform X1

UniProtKB/TrEMBL

A8K9E4

Conserved Domains (4) summary

cd00094
Location:285 → 473

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:116 → 271

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:116 → 271

Peptidase_M10; Matrixin

pfam01471
Location:45 → 95

PG_binding_1; Putative peptidoglycan binding domain
XM_011542835.3 → XP_011541137.1 neutrophil collagenase isoform X2

See identical proteins and their annotated locations for XP_011541137.1

UniProtKB/TrEMBL

B4E0I2

Conserved Domains (4) summary

cd00094
Location:253 → 441

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:84 → 239

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:84 → 239

Peptidase_M10; Matrixin

pfam01471
Location:8 → 63

PG_binding_1; Putative peptidoglycan binding domain
XM_047426965.1 → XP_047282921.1 neutrophil collagenase isoform X2
XM_047426966.1 → XP_047282922.1 neutrophil collagenase isoform X3

Related

ENSP00000401004.2, ENST00000438475.2