Gene
mmp20a
- ID
- ZDB-GENE-100603-2
- Name
- matrix metallopeptidase 20a (enamelysin)
- Symbol
- mmp20a Nomenclature History
- Previous Names
-
- mmp20 (1)
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to enable metalloendopeptidase activity. Predicted to be involved in collagen catabolic process and extracellular matrix organization. Predicted to act upstream of or within proteolysis. Predicted to be located in extracellular matrix. Predicted to be active in extracellular space. Human ortholog(s) of this gene implicated in amelogenesis imperfecta hypomaturation type 2A2. Orthologous to human MMP20 (matrix metallopeptidase 20).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from Jackson et al., 2023
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa42554 | Allele with one point mutation | Unknown | Splice Site | ENU |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| amelogenesis imperfecta hypomaturation type 2A2 | Alliance | Amelogenesis imperfecta, type IIA2 | 612529 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Hemopexin-like domain | Hemopexin-like domain superfamily | Hemopexin-like repeats | Metallopeptidase, catalytic domain superfamily | Peptidase M10A | Peptidase M10A, catalytic domain | Peptidase M10, metallopeptidase | Peptidase, metallopeptidase | PGBD-like superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M6YV12 | InterPro | 420 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
mmp20a-201
(1)
|
Ensembl | 1,383 nt | ||
| mRNA |
mmp20a-202
(1)
|
Ensembl | 2,007 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-169I9 | ||
| Contained in | BAC | DKEY-54N8 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_017351189 (1) | 3143 nt | ||
| Genomic | GenBank:CU856359 | 216188 nt | ||
| Polypeptide | UniProtKB:A0A8M6YV12 (1) | 420 aa |
- Jackson, A., Lin, S.J., Jones, E.A., Chandler, K.E., Orr, D., Moss, C., Haider, Z., Ryan, G., Holden, S., Harrison, M., Burrows, N., Jones, W.D., Loveless, M., Petree, C., Stewart, H., Low, K., Donnelly, D., Lovell, S., Drosou, K., Genomics England Research Consortium, Solve-RD consortium, Varshney, G.K., Banka, S. (2023) Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14. HGG advances. 4:100186100186
- Höijer, I., Emmanouilidou, A., Östlund, R., van Schendel, R., Bozorgpana, S., Tijsterman, M., Feuk, L., Gyllensten, U., den Hoed, M., Ameur, A. (2022) CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo that segregate across generations. Nature communications. 13:627
- Tsarouchas, T.M., Wehner, D., Cavone, L., Munir, T., Keatinge, M., Lambertus, M., Underhill, A., Barrett, T., Kassapis, E., Ogryzko, N., Feng, Y., van Ham, T.J., Becker, T., Becker, C.G. (2018) Dynamic control of proinflammatory cytokines Il-1β and Tnf-α by macrophages in zebrafish spinal cord regeneration. Nature communications. 9:4670
- Wang, W.L., Liu, W., Gong, H.Y., Hong, J.R., Lin, C.C., and Wu, J.L. (2011) Activation of cytokine expression occurs through the tnfα/nf-κb-mediated pathway in birnavirus-infected cells. Fish & shellfish immunology. 31(1):10-21
- Wyatt, R.A., Keow, J.Y., Harris, N.D., Haché, C.A., Li, D.H., and Crawford, B.D. (2009) The Zebrafish Embryo: A Powerful Model System for Investigating Matrix Remodeling. Zebrafish. 6(4):347-354
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