Gene
desma
- ID
- ZDB-GENE-980526-221
- Name
- desmin a
- Symbol
- desma Nomenclature History
- Previous Names
-
- des
- desm
- cb290 (1)
- wu:fb59a12
- zgc:109859
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to be a structural constituent of cytoskeleton. Acts upstream of or within several processes, including regulation of calcium ion transport into cytosol; regulation of cardiac muscle contraction by calcium ion signaling; and sarcomere organization. Located in Z disc. Is expressed in several structures, including cardiovascular system; mesoderm; musculature system; pectoral fin; and somite. Used to study myofibrillar myopathy 1. Human ortholog(s) of this gene implicated in intrinsic cardiomyopathy (multiple) and myopathy (multiple). Orthologous to human DES (desmin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 46 figures from 23 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb290 (15 images)
Wild Type Expression Summary
- All Phenotype Data
- 16 figures from 4 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| ct122aGt | Transgenic insertion | Unknown | Unknown | DNA | |
| ct122aRGt | Transgenic insertion | Unknown | Unknown | not specified | |
| kg97 | Allele with one delins | Exon 1 | Unknown | CRISPR | |
| sa5 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa15298 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa34555 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| umu10 | Allele with one delins | Exon 1 | Unknown | CRISPR |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-desma | Kayman Kürekçi et al., 2021 | |
| CRISPR2-desma | Dennhag et al., 2024 | |
| MO1-desma | N/A | Vogel et al., 2009 |
| MO2-desma | N/A | (3) |
| MO3-desma | N/A | Li et al., 2013 |
| MO4-desma | N/A | Li et al., 2013 |
| MO5-desma | N/A | Ramspacher et al., 2015 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| dilated cardiomyopathy 1I | Alliance | Cardiomyopathy, dilated, 1I | 604765 |
| myofibrillar myopathy 1 | Alliance | Myopathy, myofibrillar, 1 | 601419 |
| neurogenic scapuloperoneal syndrome Kaeser type | Alliance | Scapuloperoneal syndrome, neurogenic, Kaeser type | 181400 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| myofibrillar myopathy 1 | desmact122aGt/ct122aGt | control | Ramspacher et al., 2015 |
| myofibrillar myopathy 1 | desmasa5/sa5 | control | Ramspacher et al., 2015 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Intermediate filament head, DNA-binding domain | Intermediate filament protein, conserved site | Intermediate filament, rod domain | Intermediate filament structural protein |
|---|---|---|---|---|---|---|
| UniProtKB:F1R8W4 | InterPro | 473 | ||||
| UniProtKB:F1R8W3 | InterPro | 488 |
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Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-desm | polyclonal | Rabbit |
|
Sigma-Aldrich
|
17 |
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Plasmids
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH73-129N15 | ZFIN Curated Data | |
| Encodes | EST | cb290 | Thisse et al., 2001 | |
| Encodes | EST | fb59a12 | ||
| Encodes | cDNA | MGC:109859 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:192695 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001328376 (1) | 1848 nt | ||
| Genomic | GenBank:CU861474 (2) | 89132 nt | ||
| Polypeptide | UniProtKB:F1R8W3 (1) | 488 aa |
- Dennhag, N., Kahsay, A., Nissen, I., Nord, H., Chermenina, M., Liu, J., Arner, A., Liu, J.X., Backman, L.J., Remeseiro, S., von Hofsten, J., Pedrosa Domellöf, F. (2024) fhl2b mediates extraocular muscle protection in zebrafish models of muscular dystrophies and its ectopic expression ameliorates affected body muscles. Nature communications. 15:19501950
- Han, Y., Sun, K., Yu, S., Qin, Y., Zhang, Z., Luo, J., Hu, H., Dai, L., Cui, M., Jiang, C., Liu, F., Huang, Y., Gao, P., Chen, X., Xin, T., Ren, X., Wu, X., Song, J., Wang, Q., Tang, Z., Chen, J., Zhang, H., Zhang, X., Liu, M., Luo, D. (2024) A Mettl16/m6A/mybl2b/Igf2bp1 axis ensures cell cycle progression of embryonic hematopoietic stem and progenitor cells. The EMBO journal. 43(10):1990-2014
- Chiang, H.J., Koo, D.E.S., Kitano, M., Burkitt, S., Unruh, J.R., Zavaleta, C., Trinh, L.A., Fraser, S.E., Cutrale, F. (2023) HyU: Hybrid Unmixing for longitudinal in vivo imaging of low signal-to-noise fluorescence. Nature Methods. 20(2):248-258
- Watson, S., LaVigne, C.A., Xu, L., Surdez, D., Cyrta, J., Calderon, D., Cannon, M.V., Kent, M.R., Silvius, K.M., Kucinski, J.P., Harrison, E.N., Murchison, W., Rakheja, D., Tirode, F., Delattre, O., Amatruda, J.F., Kendall, G.C. (2023) VGLL2-NCOA2 leverages developmental programs for pediatric sarcomagenesis. Cell Reports. 42:112013112013
- Zhao, Y., Wang, H., He, T., Ma, B., Chen, G., Tzeng, C. (2023) Knockdown of Yap attenuates TAA-induced hepatic fibrosis by interaction with hedgehog signals. Journal of cell communication and signaling. 17(4):1335-1354
- Ho, M., Thompson, B., Fisk, J.N., Nebert, D.W., Bruford, E.A., Vasiliou, V., Bunick, C.G. (2022) Update of the keratin gene family: evolution, tissue-specific expression patterns, and relevance to clinical disorders. Human genomics. 16:1
- Wada, Y., Tsukatani, H., Kuroda, C., Miyazaki, Y., Otoshi, M., Kobayashi, I. (2022) Jagged 2b induces intercellular signaling within somites to establish hematopoietic stem cell fate in zebrafish. Development (Cambridge, England). 149(7)
- Zhou, C., Zhao, W., Zhang, S., Ma, J., Sultan, Y., Li, X. (2022) High-throughput transcriptome sequencing reveals the key stages of cardiovascular development in zebrafish embryos. BMC Genomics. 23:587
- Kayman Kürekçi, G., Kural Mangit, E., Koyunlar, C., Unsal, S., Saglam, B., Ergin, B., Gizer, M., Uyanik, I., Boustanabadimaralan Düz, N., Korkusuz, P., Talim, B., Purali, N., Hughes, S.M., Dincer, P.R. (2021) Knockout of zebrafish desmin genes does not cause skeletal muscle degeneration but alters calcium flux. Scientific Reports. 11:7505
- Espanola, S.G., Song, H., Ryu, E., Saxena, A., Kim, E.S., Manegold, J.E., Nasamran, C.A., Sahoo, D., Oh, C.K., Bickers, C., Shin, U., Grainger, S., Park, Y.H., Pandolfo, L., Kang, M.S., Kang, S., Myung, K., Cooper, K.L., Yelon, D., Traver, D., Lee, Y. (2020) Haematopoietic stem cell-dependent Notch transcription is mediated by p53 through the Histone chaperone Supt16h. Nature cell biology. 22(12):1411-1422
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