Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	9313
Gene name	Matrix metallopeptidase 20
Gene symbol	MMP20
Synonyms (NCBI Gene)	AI2A2MMP-20
Chromosome	11
Chromosome location	11q22.2
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 art

7 Show/Hide all (7)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016744	hsa-miR-335-5p	Microarray	18185580
MIRT024491	hsa-miR-215-5p	Microarray	19074876
MIRT026110	hsa-miR-192-5p	Microarray	19074876
MIRT1153356	hsa-miR-4264	CLIP-seq
MIRT1153357	hsa-miR-4276	CLIP-seq
MIRT1153358	hsa-miR-4795-3p	CLIP-seq
MIRT1153359	hsa-miR-4797-3p	CLIP-seq

Transcription factor	Regulation	Reference
JUN	Unknown	17611094

25 Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004175	Function	Endopeptidase activity	IEA
GO:0004222	Function	Metalloendopeptidase activity	IBA
GO:0004222	Function	Metalloendopeptidase activity	IDA	9398237
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0004222	Function	Metalloendopeptidase activity	TAS	9398237
GO:0005515	Function	Protein binding	IPI	18434575
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	TAS	9398237
GO:0006508	Process	Proteolysis	IEA
GO:0006508	Process	Proteolysis	TAS	9398237
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008270	Function	Zinc ion binding	TAS	9398237
GO:0016787	Function	Hydrolase activity	IEA
GO:0022617	Process	Extracellular matrix disassembly	IEA
GO:0030163	Process	Protein catabolic process	IEA
GO:0030198	Process	Extracellular matrix organization	IBA
GO:0030574	Process	Collagen catabolic process	IBA
GO:0031012	Component	Extracellular matrix	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0070173	Process	Regulation of enamel mineralization	TAS	18434575
GO:0097186	Process	Amelogenesis	IBA
GO:0097186	Process	Amelogenesis	IEA

MIM	HGNC	e!Ensembl
604629	7167	ENSG00000137674

O60882

Protein name

Matrix metalloproteinase-20 (MMP-20) (EC 3.4.24.-) (Enamel metalloproteinase) (Enamelysin)

Protein function

Degrades amelogenin, the major protein component of the enamel matrix and two of the macromolecules characterizing the cartilage extracellular matrix: aggrecan and the cartilage oligomeric matrix protein (COMP). May play a central role in tooth

PDB

2JSD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00045	Hemopexin	394 → 441	Hemopexin	Repeat
PF00045	Hemopexin	347 → 389	Hemopexin	Repeat
PF00045	Hemopexin	443 → 483	Hemopexin	Repeat
PF00413	Peptidase_M10	116 → 271	Matrixin	Domain
PF01471	PG_binding_1	35 → 95	Putative peptidoglycan binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed specifically in the enamel organ.

Sequence

MKVLPASGLAVFLIMALKFSTAAPSLVAASPRTWRNNYRLAQAYLDKYYTNKEGHQIGEM
VARGSNSMIRKIKELQAFFGLQVTGKLDQTTMNVIKKPRCGVPDVANYRLFPGEPKWKKN
TLTYRISKYTPSMSSVEVDKAVEMALQAWSSAVPLSFVRINSGEADIMISFENGDHGDSY
PFDGPRGTLAHAFAPGEGLGGDTHFDNAEKWTMGTNGFNLFTVAAHEFGHALGLAHSTDP
SALMYPTYKYKNPYGFHLPKDDVKGIQALYGPRKVFLGKPTLPHAPHHKPSIPDLCDSSS
SFDAVTMLGKELLLFKDRIFWRRQVHLRTGIRPSTITSSFPQLMSNVDAAYEVAERGTAY
FFKGPHYWITRGFQMQGPPRTIYDFGFPRHVQQIDAAVYLREPQKTLFFVGDEYYSYDER
KRKMEKDYPKNTEEEFSGVNGQIDAAVELNGYIYFFSGPKTYKYDTEKEDVVSVVKSSSW
IGC

Sequence length

483

Interactions

View interactions

Reactome Pathway
Collagen degradation
Degradation of the extracellular matrix
Assembly of collagen fibrils and other multimeric structures

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Amelogenesis imperfecta hypomaturation type 2A2	Pathogenic; Likely pathogenic	rs587777515, rs587777516, rs786204826, rs140213840, rs761478767, rs759614533, rs781178683, rs916966344, rs1565397250, rs199788797, rs1859555583	RCV000128567 RCV000128568 RCV000169729 RCV000005761 RCV003154849 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gastric cancer	Pathogenic	rs140213840	RCV005887322	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MMP20-related disorder	Pathogenic	rs140213840	RCV003415660	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (16)
AMELOGENESIS IMPERFECTA	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA HYPOMATURATION TYPE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA TYPE 2	—	GWAS catalog	15744043	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA2	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta, Recessive	Uncertain significance; Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTIN DYSPLASIA	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTINOGENESIS IMPERFECTA	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOMATURATION AMELOGENESIS IMPERFECTA	—	Orphanet	15744043	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 56	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability, autosomal dominant 56	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	GWAS catalog	28924153	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	23535732, 29892016, 33293427, 33398198, 37340002, 37945903, 39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	23535732, 29892016, 33293427, 33398198, 37340002, 37945903, 39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ODAPH	4	["Amelogenesis imperfecta","Dentin dysplasia","Dentinogenesis imperfecta","Hypomaturation amelogenesis imperfecta"]	[]	8	["Disgenet (Amelogenesis imperfecta)","CTD (Amelogenesis imperfecta)","GWAS catalog (Amelogenesis imperfecta)","ClinVar (Amelogenesis imperfecta)","HPO (Amelogenesis imperfecta)","Disgenet (Dentin dysplasia)","Disgenet (Dentinogenesis imperfecta)","Orphanet (Hypomaturation amelogenesis imperfecta)"]
AMELX	4	["Amelogenesis imperfecta","Dentin dysplasia","Dentinogenesis imperfecta","Hypomaturation amelogenesis imperfecta"]	[]	8	["Disgenet (Amelogenesis imperfecta)","CTD (Amelogenesis imperfecta)","GWAS catalog (Amelogenesis imperfecta)","ClinVar (Amelogenesis imperfecta)","HPO (Amelogenesis imperfecta)","Disgenet (Dentin dysplasia)","Disgenet (Dentinogenesis imperfecta)","Orphanet (Hypomaturation amelogenesis imperfecta)"]
KLK4	4	["Amelogenesis imperfecta","Dentin dysplasia","Dentinogenesis imperfecta","Hypomaturation amelogenesis imperfecta"]	[]	8	["Disgenet (Amelogenesis imperfecta)","CTD (Amelogenesis imperfecta)","GWAS catalog (Amelogenesis imperfecta)","ClinVar (Amelogenesis imperfecta)","HPO (Amelogenesis imperfecta)","Disgenet (Dentin dysplasia)","Disgenet (Dentinogenesis imperfecta)","Orphanet (Hypomaturation amelogenesis imperfecta)"]
ENAM	3	["Amelogenesis imperfecta","Dentin dysplasia","Dentinogenesis imperfecta"]	[]	7	["Disgenet (Amelogenesis imperfecta)","CTD (Amelogenesis imperfecta)","GWAS catalog (Amelogenesis imperfecta)","ClinVar (Amelogenesis imperfecta)","HPO (Amelogenesis imperfecta)","Disgenet (Dentin dysplasia)","Disgenet (Dentinogenesis imperfecta)"]
SLC24A4	4	["Amelogenesis imperfecta","Dentin dysplasia","Dentinogenesis imperfecta","Hypomaturation amelogenesis imperfecta"]	[]	8	["Disgenet (Amelogenesis imperfecta)","CTD (Amelogenesis imperfecta)","GWAS catalog (Amelogenesis imperfecta)","ClinVar (Amelogenesis imperfecta)","HPO (Amelogenesis imperfecta)","Disgenet (Dentin dysplasia)","Disgenet (Dentinogenesis imperfecta)","Orphanet (Hypomaturation amelogenesis imperfecta)"]

MMP20 (matrix metallopeptidase 20)

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