Gene
cacna2d1a
- ID
- ZDB-GENE-041210-215
- Name
- calcium channel, voltage-dependent, alpha 2/delta subunit 1a
- Symbol
- cacna2d1a Nomenclature History
- Previous Names
-
- si:ch211-251k4.1
- Type
- protein_coding_gene
- Location
- Chr: 4 Mapping Details/Browsers
- Description
- Predicted to enable voltage-gated calcium channel activity. Predicted to act upstream of or within calcium ion transmembrane transport. Predicted to be located in membrane. Predicted to be part of L-type voltage-gated calcium channel complex. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 110. Orthologous to human CACNA2D1 (calcium voltage-gated channel auxiliary subunit alpha2delta 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- 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 |
|---|---|---|---|---|---|
| la024479Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la024480Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la024481Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa6941 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa7551 | Allele with one point mutation | Unknown | Missense | ENU | |
| sa8955 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa40279 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa40280 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa45174 | 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 |
|---|---|---|---|
| developmental and epileptic encephalopathy 110 | Alliance | Developmental and epileptic encephalopathy 110 | 620149 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR002035 | von Willebrand factor, type A |
| Domain | IPR013608 | VWA N-terminal |
| Domain | IPR013680 | Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region |
| Family | IPR051173 | Voltage-dependent calcium channel subunit alpha-2/delta |
| Homologous_superfamily | IPR036465 | von Willebrand factor A-like domain superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region | Voltage-dependent calcium channel subunit alpha-2/delta | von Willebrand factor A-like domain superfamily | von Willebrand factor, type A | VWA N-terminal |
|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M3ARM5 | InterPro | 1092 | |||||
| UniProtKB:A0A8M2BBW2 | InterPro | 1083 | |||||
| UniProtKB:A0A8M3B8Y7 | InterPro | 1093 | |||||
| UniProtKB:Q5TZ68 | InterPro | 1069 | |||||
| UniProtKB:A0A8M3AYS1 | InterPro | 1085 | |||||
| UniProtKB:E7F4T2 | InterPro | 1091 | |||||
| UniProtKB:A0AB32TQ93 | InterPro | 1090 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
cacna2d1a-201
(1)
|
Ensembl | 3,305 nt | ||
| mRNA |
cacna2d1a-202
(1)
|
Ensembl | 3,826 nt | ||
| mRNA |
cacna2d1a-203
(1)
|
Ensembl | 3,928 nt |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-251K4 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001044960 (1) | 3305 nt | ||
| Genomic | GenBank:BX323820 (1) | 172228 nt | ||
| Polypeptide | UniProtKB:A0A8M3B8Y7 (1) | 1093 aa |
- 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):
- 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
- 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
- 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
- Horstick, E.J., Linsley, J.W., Dowling, J.J., Hauser, M.A., McDonald, K.K., Ashley-Koch, A., Saint-Amant, L., Satish, A., Cui, W.W., Zhou, W., Sprague, S.M., Stamm, D.S., Powell, C.M., Speer, M.C., Franzini-Armstrong, C., Hirata, H., and Kuwada, J.Y. (2013) Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy. Nature communications. 4:1952
- 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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