Gene
casq2
- ID
- ZDB-GENE-010724-12
- Name
- calsequestrin 2
- Symbol
- casq2 Nomenclature History
- Previous Names
-
- wu:fa02h03
- zgc:86817
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to enable calcium ion binding activity. Predicted to be involved in regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion. Predicted to be located in sarcoplasmic reticulum. Predicted to be active in Z disc and sarcoplasmic reticulum lumen. Is expressed in adaxial cell; brain; cardiovascular system; musculature system; and somite. Human ortholog(s) of this gene implicated in catecholaminergic polymorphic ventricular tachycardia 2. Orthologous to human CASQ2 (calsequestrin 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 18 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6908916 (10 images)
- IMAGE:7152523 (6 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
No data available
No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| catecholaminergic polymorphic ventricular tachycardia 2 | Alliance | Ventricular tachycardia, catecholaminergic polymorphic, 2 | 611938 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Calsequestrin | Calsequestrin, C-terminal TRX-fold domain | Calsequestrin, middle TRX-fold domain | Calsequestrin, N-terminal TRX-fold domain | Thioredoxin-like superfamily |
|---|---|---|---|---|---|---|---|
| UniProtKB:Q6DI16 | InterPro | 409 |
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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 | CH211-125E6 | ZFIN Curated Data | |
| Encodes | EST | fa02h03 | ||
| Encodes | EST | IMAGE:6908916 | ZFIN Curated Data | |
| Encodes | EST | IMAGE:7152523 | Thisse et al., 2004 | |
| Encodes | cDNA | MGC:86817 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001002682 (1) | 2803 nt | ||
| Genomic | GenBank:BX511259 (1) | 182412 nt | ||
| Polypeptide | UniProtKB:Q6DI16 (1) | 409 aa |
- Fang, C., Wang, P., Yu, D., Zhang, X., Gou, D., Liang, L., Bai, X., Xie, W., Li, H., Pu, J., Yao, Y., Wang, B., Ren, X., Ke, T., Tu, X., Xu, C., Wang, Q.K. (2022) Genome-Wide Association Study for Idiopathic Ventricular Tachyarrhythmias Identifies Key Role of CCR7 and PKN2 in Calcium Homeostasis and Cardiac Rhythm Maintenance. Circulation. Genomic and precision medicine. 15(5):e003603
- Furlan, S., Campione, M., Murgia, M., Mosole, S., Argenton, F., Volpe, P., Nori, A. (2020) Calsequestrins New Calcium Store Markers of Adult Zebrafish Cerebellum and Optic Tectum. Frontiers in Neuroanatomy. 14:15
- Boskovic, S., Marín-Juez, R., Jasnic, J., Reischauer, S., El Sammak, H., Kojic, A., Faulkner, G., Radojkovic, D., Stainier, D.Y.R., Kojic, S. (2018) Characterization of zebrafish (Danio rerio) muscle ankyrin repeat proteins reveals their conserved response to endurance exercise. PLoS One. 13:e0204312
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Takeuchi, M., Yamaguchi, S., Sakakibara, M., Hayashi, T., Matsuda, K., Hara, Y., Tanegashima, C., Shimizu, T., Kuraku, S., Hibi, M. (2017) Gene expression profiling of granule cells and Purkinje cells in the zebrafish cerebellum. The Journal of comparative neurology. 525(7):1558-1585
- Furlan, S., Mosole, S., Murgia, M., Nagaraj, N., Argenton, F., Volpe, P., Nori, A. (2016) Calsequestrins in skeletal and cardiac muscle from adult Danio rerio. Journal of muscle research and cell motility. 37(1-2):27-39
- 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
- Waugh, T.A., Horstick, E., Hur, J., Jackson, S.W., Davidson, A.E., Li, X., Dowling, J.J. (2014) Fluoxetine prevents dystrophic changes in a zebrafish model of Duchenne muscular dystrophy. Human molecular genetics. 23(17):4651-62
- Warner, C.M., Gust, K.A., Stanley, J.K., Habib, T., Wilbanks, M.S., Garcia-Reyero, N., and Perkins, E.J. (2012) A Systems Toxicology Approach to Elucidate the Mechanisms Involved in RDX Species-Specific Sensitivity. Environmental science & technology. 46(14):7790-7798
- Infante, C., Ponce, M., and Manchado, M. (2011) Duplication of calsequestrin genes in teleosts: molecular characterization in the Senegalese sole (Solea senegalensis). Comparative biochemistry and physiology. Part B, Biochemistry & molecular biology. 158(4):304-314
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