Gene
cacna2d4b
- ID
- ZDB-GENE-100422-18
- Name
- calcium channel, voltage-dependent, alpha 2/delta subunit 4b
- Symbol
- cacna2d4b Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Predicted to enable voltage-gated calcium channel activity. Acts upstream of or within retinal cone cell development. Predicted to be located in membrane. Predicted to be part of voltage-gated calcium channel complex. Is expressed in cerebellum; retinal inner nuclear layer; and retinal outer nuclear layer. Human ortholog(s) of this gene implicated in retinal cone dystrophy 4. Orthologous to human CACNA2D4 (calcium voltage-gated channel auxiliary subunit alpha2delta 4).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Schlegel et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la028685Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa16578 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa19361 | Allele with one point mutation | Unknown | Unknown | ENU | |
| sa24654 | Allele with one point mutation | Unknown | Missense | ENU | |
| sa24655 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa30239 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa38052 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa38053 | Allele with one point mutation | Unknown | Unknown | ENU | |
| sa38054 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa38055 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| retinal cone dystrophy 4 | Alliance | Retinal cone dystrophy 4 | 610478 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Voltage-dependent calcium channel subunit alpha-2/delta | VWA N-terminal |
|---|---|---|---|---|
| UniProtKB:A0A8M9PN85 | InterPro | 1094 | ||
| UniProtKB:A0A8M9PEF2 | InterPro | 224 | ||
| UniProtKB:A0A8M3AZP4 | InterPro | 1100 | ||
| UniProtKB:A0A8M9PYY9 | InterPro | 1093 | ||
| UniProtKB:A0AB32TE66 | InterPro | 1100 | ||
| UniProtKB:A0AB32TF73 | InterPro | 1094 | ||
| UniProtKB:A0AB32TJX8 | InterPro | 1093 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
cacna2d4b-201
(1)
|
Ensembl | 3,916 nt | ||
| mRNA |
cacna2d4b-202
(1)
|
Ensembl | 3,603 nt | ||
| mRNA |
cacna2d4b-203
(1)
|
Ensembl | 2,283 nt | ||
| mRNA |
cacna2d4b-204
(1)
|
Ensembl | 2,537 nt |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-218L23 | ZFIN Curated Data | |
| Contained in | BAC | DKEYP-19H3 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_068217523 (1) | 4962 nt | ||
| Genomic | GenBank:CR354535 (1) | 225139 nt | ||
| Polypeptide | UniProtKB:A0A8M3AZP4 (1) | 1100 aa |
- Hu, T., Liu, L., Wang, H., Yang, M., Xu, B., Xie, H., Lin, Z., Jin, X., Wang, P., Liu, Y., Sun, H., Liu, S. (2024) RCAN family member 3 deficiency contributes to noncompaction of the ventricular myocardium. Journal of genetics and genomics = Yi chuan xue bao. 51(5):543-553
- Cai, W., Wang, Y., Luo, Y., Gao, L., Zhang, J., Jiang, Z., Fan, X., Li, F., Xie, Y., Wu, X., Li, Y., Yuan, W. (2023) asb5a/asb5b Double Knockout Affects Zebrafish Cardiac Contractile Function. International Journal of Molecular Sciences. 24(22):
- Schlegel, D.K., Glasauer, S.M.K., Mateos, J.M., Barmettler, G., Ziegler, U., Neuhauss, S.C.F. (2019) A New Zebrafish Model for CACNA2D4-Dysfunction. Investigative ophthalmology & visual science. 60:5124-5135
- Sánchez, E., Azcona, L.J., Paisán-Ruiz, C. (2018) Pla2g6 Deficiency in Zebrafish Leads to Dopaminergic Cell Death, Axonal Degeneration, Increased β-Synuclein Expression, and Defects in Brain Functions and Pathways. Molecular neurobiology. 55(8):6734-6754
- 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
- Cardoso, J.C., Bergqvist, C.A., Felix, R.C., Larhammar, D. (2016) Corticotropin-releasing hormone family evolution: five ancestral genes remain in some lineages. Journal of molecular endocrinology. 57(1):73-86
- Samarut, E., Bekri, A., Drapeau, P. (2016) Transcriptomic Analysis of Purified Embryonic Neural Stem Cells from Zebrafish Embryos Reveals Signaling Pathways Involved in Glycine-Dependent Neurogenesis. Frontiers in molecular neuroscience. 9:22
- 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
- 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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