MMP20 matrix metallopeptidase 20 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MMP20provided by HGNC
Official Full Name: matrix metallopeptidase 20provided by HGNC
Primary source: HGNC:HGNC:7167
See related: Ensembl:ENSG00000137674 MIM:604629; AllianceGenome:HGNC:7167
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: AI2A2; MMP-20
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 protein encoded by this gene degrades amelogenin, the major protein component of dental enamel matrix, and thus thought to play a role in tooth enamel formation. A mutation in this gene, which alters the normal splice pattern and results in premature termination of the encoded protein, has been associated with amelogenesis imperfecta. This gene is part of a cluster of MMP genes located on chromosome 11q22.3. [provided by RefSeq, Aug 2011]
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_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (102576832..102625332, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (102579028..102627492, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (102447563..102496063, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Lung development, repair and cancer: A study on the role of MMP20 gene in adenocarcinoma.
Title: Lung development, repair and cancer: A study on the role of MMP20 gene in adenocarcinoma.
Dental malformations associated with biallelic MMP20 mutations.
Title: Dental malformations associated with biallelic MMP20 mutations.
The possible influence of genetic aetiological factors on molar-incisor hypomineralisation.
Title: The possible influence of genetic aetiological factors on molar-incisor hypomineralisation.
Significantly high expression levels of MMP20 and DSPP were observed in the malignant breast, colon, prostate, thyroid, and cervical neoplasms compared with their benign and normal counterparts. Furthermore, MMP20 levels increased with advanced stages of colon and thyroid cancers. DSPP expression increased significantly with tumor stage in all cancers examined.
Title: Survey of dentin sialophosphoprotein and its cognate matrix metalloproteinase-20 in human cancers.
AMELX and ODAM variations was not different between two populations of schoolchildren with respect to dental fluorosis (DF) severity; however, the presence of rs1784418 differed between phenotypes with regard to susceptibility to DF. Therefore, MMP20 might be related to the various phenotypes of DF
Title: DNA sequencing reveals AMELX, ODAM and MMP20 variations in dental fluorosis.
the minimum alleles of rs10895322, rs1784424, rs3781788, and rs1573954 correlated with an increased risk of alcohol-induced ONFH (P<0.05). Genetic model analysis revealed significant associations of 9 SNPs with alcohol-induced ONFH occurrence after adjustment for age (P<0.05): 2 protective SNPs (rs1711423 and rs1784418) and 7 high-risk SNPs (rs10895322, rs1784424, rs3781788, rs7126560, rs1573954, rs1711399, rs2292730).
Title: MMP20 Single-Nucleotide Polymorphisms Correlate with Susceptibility to Alcohol-Induced Osteonecrosis of the Femoral Head in Chinese Males.
The polymorphisms in MMP2, MMP9 and MMP20 genes were not statistically associated with human dental fluorosis.
Title: Evaluation of genetic polymorphisms in MMP2, MMP9 and MMP20 in Brazilian children with dental fluorosis.
The levels of MMP20 silencing-induced downregulation differed amongst CSC markers, with ABCG2 and CD44 showing more pronounced downregulations.
Title: DSPP-MMP20 gene silencing downregulates cancer stem cell markers in human oral cancer cells.
common variants at 11q22.2 within MMP20 associate with neuroblastoma cases harboring 11q deletion (rs10895322)
Title: Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk.
The article data showed that MMP20 rs1784418 C>T (Matrix metalloproteinase 20) appears to protect against dental caries, but its effects are likely to be more marked in certain populations.
Title: MMP20 rs1784418 Protects Certain Populations against Caries.

Submit: New GeneRIF Correction See all GeneRIFs (34)

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
Amelogenesis imperfecta hypomaturation type 2A2 MedGen: C2675858 OMIM: 612529 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
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

D11S3368 (e-PCR)
- UniSTS:152610

NoName (e-PCR)
- UniSTS:483894

NoName (e-PCR)
- UniSTS:480572

SHGC-153582 (e-PCR)
- UniSTS:182427

SHGC-153765 (e-PCR)
- UniSTS:182428

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metalloendopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metalloendopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in amelogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in collagen catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in extracellular matrix disassembly	IEA Inferred from Electronic Annotation more info
involved_in extracellular matrix organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info
involved_in regulation of enamel mineralization	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: matrix metalloproteinase-20

Names: enamel metalloproteinase; matrix metalloproteinase 20 (enamelysin)

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_012151.1 RefSeqGene

Range

5001..53501

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004771.4 → NP_004762.2 matrix metalloproteinase-20 preproprotein

See identical proteins and their annotated locations for NP_004762.2

Status: REVIEWED

Source sequence(s)

AP000851

Consensus CDS

CCDS8318.1

UniProtKB/Swiss-Prot

O60882, Q6DKT9

Related

ENSP00000260228.2, ENST00000260228.3

Conserved Domains (4) summary

cd00094
Location:293 → 483

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:35 → 95

PG_binding_1; Putative peptidoglycan binding domain