MMP20 (matrix metallopeptidase 20)

2003-06-01  

Identity

HGNC
LOCATION
11q22.2
LOCUSID
ALIAS
AI2A2,MMP-20
FUSION GENES

Other Information

Locus ID:

NCBI: 9313
MIM: 604629
HGNC: 7167
Ensembl: ENSG00000137674

Variants:

dbSNP: 9313
ClinVar: 9313
TCGA: ENSG00000137674
COSMIC: MMP20

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000137674ENST00000260228O60882

Expression (GTEx)

0
1
2
3

Pathways

PathwaySourceExternal ID
Extracellular matrix organizationREACTOMER-HSA-1474244
Collagen formationREACTOMER-HSA-1474290
Assembly of collagen fibrils and other multimeric structuresREACTOMER-HSA-2022090
Degradation of the extracellular matrixREACTOMER-HSA-1474228
Collagen degradationREACTOMER-HSA-1442490

References

Pubmed IDYearTitleCitations
157440432005MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta.105
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
187141422009Human and mouse enamel phenotypes resulting from mutation or altered expression of AMEL, ENAM, MMP20 and KLK4.33
198345352009Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.27
198345352009Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.27
199660412010MMP20 hemopexin domain mutation in amelogenesis imperfecta.24
223303212012Genetic variation in MMP20 contributes to higher caries experience.24
233555232013Novel KLK4 and MMP20 mutations discovered by whole-exome sequencing.22
204845972010Association of matrix metalloproteinase gene polymorphisms with refractive error in Amish and Ashkenazi families.15

Citation

Dessen P

MMP20 (matrix metallopeptidase 20)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/41397/mmp20