Gene
matn3b
- ID
- ZDB-GENE-050221-9
- Name
- matrilin 3b
- Symbol
- matn3b Nomenclature History
- Previous Names
-
- zgc:123028
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to be located in extracellular region. Predicted to be active in collagen-containing extracellular matrix. Is expressed in hypochord and notochord. 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
- 6 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7157032 (3 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
No data available
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 |
| 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 | 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:Q5NIW0 | InterPro | 478 | ||||||
| UniProtKB:Q5NJJ6 | InterPro | 343 | ||||||
| UniProtKB:Q5NJJ7 | InterPro | 299 | ||||||
| UniProtKB:B7ZD91 | InterPro | 434 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
matn3b-201
(1)
|
Ensembl | 1,144 nt | ||
| mRNA |
matn3b-202
(1)
|
Ensembl | 1,484 nt | ||
| mRNA |
matn3b-203
(1)
|
Ensembl | 1,352 nt | ||
| mRNA |
matn3b-204
(1)
|
Ensembl | 1,099 nt |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-206K20 | Ko et al., 2005 | |
| Encodes | EST | IMAGE:7157032 | Thisse et al., 2004 | |
| Encodes | cDNA | MGC:123028 | ZFIN Curated Data |
1 - 3 of 3
Show
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001012385 (1) | 1484 nt | ||
| Genomic | GenBank:AL935163 (1) | 158350 nt | ||
| Polypeptide | UniProtKB:Q5NIW0 (1) | 478 aa |
- Wang, D., Wang, X., Huang, H., Wang, H. (2021) Triclosan regulates alternative splicing events of nerve-related genes through RNA-binding protein CELF2 to induce zebrafish neurotoxicity. Journal of hazardous materials. 413:125414
- 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
- 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
- Barboric, M., Lenasi, T., Chen, H., Johansen, E.B., Guo, S., and Peterlin, B.M. (2009) 7SK snRNP/P-TEFb couples transcription elongation with alternative splicing and is essential for vertebrate development. Proceedings of the National Academy of Sciences of the United States of America. 106(19):7798-7803
- 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
- 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
- Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903
1 - 7 of 7
Show