Gene
matn3a
- ID
- ZDB-GENE-040822-21
- Name
- matrilin 3a
- Symbol
- matn3a Nomenclature History
- Previous Names
-
- ns:zf-e359
- si:dkeyp-50f7.4
- zgc:101120
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to be located in extracellular region. Predicted to be active in collagen-containing extracellular matrix. Is expressed in notochord; skeletal system; and vertebra. Human ortholog(s) of this gene implicated in multiple epiphyseal dysplasia 5; osteoarthritis; and osteochondrodysplasia. Orthologous to human MATN3 (matrilin 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7148317 (4 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| ihb181 | Allele with one insertion | Unknown | Unknown | CRISPR | |
| ihb196 | Allele with one deletion | Exon 3 | Unknown | CRISPR | |
| ihb197 | Allele with one deletion | Exon 3 | Unknown | CRISPR | |
| la021666Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa45716 | 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 |
|---|---|---|---|
| multiple epiphyseal dysplasia 5 | Alliance | Epiphyseal dysplasia, multiple, 5 | 607078 |
| Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type | 608728 | ||
| {Osteoarthritis susceptibility 2} | 140600 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000742 | EGF-like domain |
| Domain | IPR002035 | von Willebrand factor, type A |
| Domain | IPR019466 | Matrilin, coiled-coil trimerisation domain |
| Domain | IPR026823 | Complement Clr-like EGF domain |
| Family | IPR050525 | Extracellular Matrix Assembly and Organization |
| Homologous_superfamily | IPR036337 | Matrilin, coiled-coil domain superfamily |
| Homologous_superfamily | IPR036465 | von Willebrand factor A-like domain superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | Complement Clr-like EGF domain | EGF-like domain | Extracellular Matrix Assembly and Organization | Matrilin, coiled-coil domain superfamily | Matrilin, coiled-coil trimerisation domain | von Willebrand factor A-like domain superfamily | von Willebrand factor, type A |
|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:F1QH94 | InterPro | 295 | |||||||
| UniProtKB:Q68EK6 | InterPro | 337 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
matn3a-201
(1)
|
Ensembl | 1,463 nt | ||
| mRNA |
matn3a-202
(1)
|
Ensembl | 1,414 nt | ||
| mRNA |
matn3a-203
(1)
|
Ensembl | 1,954 nt | ||
| mRNA |
matn3a-204
(1)
|
Ensembl | 1,974 nt | ||
| mRNA |
matn3a-205
(1)
|
Ensembl | 740 nt |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-matn3a | polyclonal | Rabbit |
|
2 |
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEYP-50F7 | Ko et al., 2005 | |
| Encodes | EST | IMAGE:7148317 | Thisse et al., 2004 | |
| Encodes | EST | zf-e359 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:101120 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:174732 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001004007 (1) | 2124 nt | ||
| Genomic | GenBank:CR392340 (1) | 247887 nt | ||
| Polypeptide | UniProtKB:Q68EK6 (1) | 337 aa |
- Tsata, V., Möllmert, S., Schweitzer, C., Kolb, J., Möckel, C., Böhm, B., Rosso, G., Lange, C., Lesche, M., Hammer, J., Kesavan, G., Beis, D., Guck, J., Brand, M., Wehner, D. (2020) A switch in pdgfrb+ cell-derived ECM composition prevents inhibitory scarring and promotes axon regeneration in the zebrafish spinal cord. Developmental Cell. 56(4):509-524.e9
- Mu, X., Liu, J., Yuan, L., Yang, K., Huang, Y., Wang, C., Yang, W., Shen, G., Li, Y. (2019) The mechanisms underlying the developmental effects of bisphenol F on zebrafish. The Science of the total environment. 687:877-884
- Navarro-Martín, L., Oliveira, E., Casado, M., Barata, C., Piña, B. (2017) Dysregulatory effects of retinoic acid isomers in late zebrafish embryos. Environmental science and pollution research international. 25(4):3849-3859
- Becker, A.K., Mikolajek, H., Werner, J.M., Paulsson, M., Wagener, R. (2015) Characterization of recombinantly expressed matrilin VWA domains. Protein Expression and Purification. 107:20-8
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
- Sundström, G., Dreborg, S., and Larhammar, D. (2010) Concomitant duplications of opioid peptide and receptor genes before the origin of jawed vertebrates. PLoS One. 5(5):e10512
- Semon, M., and Wolfe, K.H. (2007) Reciprocal gene loss between Tetraodon and zebrafish after whole genome duplication in their ancestor. Trends in genetics : TIG. 23(3):108-112
- Wang, D., Jao, L.E., Zheng, N., Dolan, K., Ivey, J., Zonies, S., Wu, X., Wu, K., Yang, H., Meng, Q., Zhu, Z., Zhang, B., Lin, S., and Burgess, S.M. (2007) Efficient genome-wide mutagenesis of zebrafish genes by retroviral insertions. Proceedings of the National Academy of Sciences of the United States of America. 104(30):12428-12433
- Ko, Y.P., Kobbe, B., Paulsson, M., and Wagener, R. (2005) Zebrafish (Danio rerio) matrilins: shared and divergent characteristics with their mammalian counterparts. The Biochemical journal. 386(Pt 2):367-79
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