Gene
desmb
- ID
- ZDB-GENE-061027-102
- Name
- desmin b
- Symbol
- desmb Nomenclature History
- Previous Names
-
- wu:fc11d08
- zgc:154009
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to be a structural constituent of cytoskeleton. Acts upstream of or within locomotory behavior; muscle contraction; and skeletal muscle organ development. Predicted to be active in several cellular components, including Z disc; intermediate filament; and sarcolemma. Is expressed in cardiovascular system; intestine; musculature system; and somite. 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
- 9 figures from 8 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-desmb | Kayman Kürekçi et al., 2021 | |
| CRISPR2-desmb | Dennhag et al., 2024 | |
| MO1-desmb | N/A | Li et al., 2013 |
| MO2-desmb | N/A | Li et al., 2013 |
| MO3-desmb | N/A | Bührdel et al., 2015 |
1 - 5 of 5
Show
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 |
1 - 3 of 3
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:Q05AI8 | InterPro | 474 | ||||
| UniProtKB:A0A8M9QFJ6 | InterPro | 461 |
1 - 2 of 2
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH73-17B14 | ZFIN Curated Data | |
| Encodes | EST | fc11d08 | ||
| Encodes | cDNA | MGC:154009 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:192686 | ZFIN Curated Data |
1 - 4 of 4
Show
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001077452 (1) | 1854 nt | ||
| Genomic | GenBank:AL928556 (1) | 196404 nt | ||
| Polypeptide | UniProtKB:Q05AI8 (1) | 474 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
- Ulhaq, Z.S., Ogino, Y., Tse, W.K.F. (2023) FGF8 rescues motor deficits in zebrafish model of limb-girdle muscular dystrophy R18. Biochemical and Biophysical Research Communications. 652:768376-83
- 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
- Gentile, A., Bensimon-Brito, A., Priya, R., Maischein, H.M., Piesker, J., Guenther, S., Gunawan, F., Stainier, D.Y. (2021) The EMT transcription factor Snai1 maintains myocardial wall integrity by repressing intermediate filament gene expression. eLIFE. 10:
- 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
- Whitesell, T.R., Chrystal, P.W., Ryu, J.R., Munsie, N., Grosse, A., French, C.R., Workentine, M.L., Li, R., Zhu, L.J., Waskiewicz, A., Lehmann, O.J., Lawson, N.D., Childs, S.J. (2019) foxc1 is required for embryonic head vascular smooth muscle differentiation in zebrafish. Developmental Biology. 453(1):34-47
- Goto, H., Kimmey, S.C., Row, R.H., Matus, D.Q., Martin, B.L. (2017) FGF and canonical Wnt signaling cooperate to induce paraxial mesoderm from tailbud neuromesodermal progenitors through regulation of a two-step EMT. Development (Cambridge, England). 144(8):1412-1424
- Braasch, I., Gehrke, A.R., Smith, J.J., Kawasaki, K., Manousaki, T., Pasquier, J., Amores, A., Desvignes, T., Batzel, P., Catchen, J., Berlin, A.M., Campbell, M.S., Barrell, D., Martin, K.J., Mulley, J.F., Ravi, V., Lee, A.P., Nakamura, T., Chalopin, D., Fan, S., Wcisel, D., Cañestro, C., Sydes, J., Beaudry, F.E., Sun, Y., Hertel, J., Beam, M.J., Fasold, M., Ishiyama, M., Johnson, J., Kehr, S., Lara, M., Letaw, J.H., Litman, G.W., Litman, R.T., Mikami, M., Ota, T., Saha, N.R., Williams, L., Stadler, P.F., Wang, H., Taylor, J.S., Fontenot, Q., Ferrara, A., Searle, S.M., Aken, B., Yandell, M., Schneider, I., Yoder, J.A., Volff, J.N., Meyer, A., Amemiya, C.T., Venkatesh, B., Holland, P.W., Guiguen, Y., Bobe, J., Shubin, N.H., Di Palma, F., Alföldi, J., Lindblad-Toh, K., Postlethwait, J.H. (2016) The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons. Nature Genetics. 48(4):427-37
- Bührdel, J.B., Hirth, S., Keßler, M., Westphal, S., Forster, M., Manta, L., Wiche, G., Schoser, B., Schessl, J., Schröder, R., Clemen, C.S., Eichinger, L., Fürst, D.O., van der Ven, P.F., Rottbauer, W., Just, S. (2015) In vivo characterization of human myofibrillar myopathy genes in zebrafish. Biochemical and Biophysical Research Communications. 461(2):217-23
- Ramspacher, C., Steed, E., Boselli, F., Ferreira, R., Faggianelli, N., Roth, S., Spiegelhalter, C., Messaddeq, N., Trinh, L., Liebling, M., Chacko, N., Tessadori, F., Bakkers, J., Laporte, J., Hnia, K., Vermot, J. (2015) Developmental Alterations in Heart Biomechanics and Skeletal Muscle Function in Desmin Mutants Suggest an Early Pathological Root for Desminopathies. Cell Reports. 11:1564-76
1 - 10 of 16
Show