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MMP20 matrix metallopeptidase 20 [ Homo sapiens (human) ]

Gene ID: 9313, updated on 8-Jul-2021

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
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
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Genomic context

See MMP20 in Genome Data Viewer
Location:
11q22.2
Exon count:
10
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (102576832..102625332, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (102447563..102496063, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723838 Neighboring gene matrix metallopeptidase 7 Neighboring gene uncharacterized LOC101928477 Neighboring gene matrix metallopeptidase 27 Neighboring gene matrix metallopeptidase 8

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Amelogenesis imperfecta, hypomaturation type, IIA2
MedGen: C2675858 OMIM: 612529 GeneReviews: Not available
Compare labs
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metalloendopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
involved_in collagen catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
 
located_in extracellular space TAS
Traceable Author Statement
more info
PubMed 

General protein information

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

  1. NG_012151.1 RefSeqGene

    Range
    5001..53501
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004771.4NP_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
    Related
    ENSP00000260228.2, ENST00000260228.3
    Conserved Domains (4) summary
    cd00094
    Location:293483
    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:116271
    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:116271
    Peptidase_M10; Matrixin
    pfam01471
    Location:3595
    PG_binding_1; Putative peptidoglycan binding domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    102576832..102625332 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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