Gene
dym
- ID
- ZDB-GENE-091204-348
- Name
- dymeclin
- Symbol
- dym Nomenclature History
- Previous Names
-
- si:ch211-167h3.1
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to be involved in Golgi organization. Predicted to be active in Golgi apparatus. Is expressed in ceratobranchial cartilage; ceratohyal cartilage; head; neuromast; and ventral mandibular arch. Human ortholog(s) of this gene implicated in Dyggve-Melchior-Clausen disease; Smith-McCort dysplasia 1; and osteochondrodysplasia. Orthologous to human DYM (dymeclin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Denais et al., 2011
- 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 |
|---|---|---|---|---|---|
| la011147Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa10263 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa11233 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa11707 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa23842 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa23843 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa45724 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Dyggve-Melchior-Clausen disease | Alliance | Dyggve-Melchior-Clausen disease | 223800 |
| Smith-McCort dysplasia 1 | Alliance | Smith-McCort dysplasia | 607326 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR019142 | Dymeclin |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Dymeclin |
|---|---|---|---|
| UniProtKB:A0A8M6Z399 | InterPro | 671 |
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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 | CH211-167H3 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_017353033 (1) | |||
| Genomic | GenBank:CT033824 (1) | 141377 nt | ||
| Polypeptide | UniProtKB:A0A8M6Z399 (1) | 671 aa |
- 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
- Denais, C., Dent, C.L., Southgate, L., Hoyle, J., Dafou, D., Trembath, R.C., and Machado, R.D. (2011) Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development. Human Mutation. 32(2):231-239
- 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
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