Gene
cacnb4b
- ID
- ZDB-GENE-060421-7907
- Name
- calcium channel, voltage-dependent, beta 4b subunit
- Symbol
- cacnb4b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Enables voltage-gated calcium channel activity. Acts upstream of or within epiboly involved in gastrulation with mouth forming second. Predicted to be part of voltage-gated calcium channel complex. Is expressed in several structures, including atrium; head; nervous system; pleuroperitoneal region; and spinal cord neural tube. Human ortholog(s) of this gene implicated in dilated cardiomyopathy; episodic ataxia; episodic ataxia type 5; and generalized epilepsy. Orthologous to human CACNB4 (calcium voltage-gated channel auxiliary subunit beta 4).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Ebert et al., 2008
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| episodic ataxia type 5 | Alliance | ?Episodic ataxia, type 5 | 613855 |
| {Epilepsy, idiopathic generalized, susceptibility to, 9} | 607682 | ||
| {Epilepsy, juvenile myoclonic, susceptibility to, 6} | 607682 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR001452 | SH3 domain |
| Domain | IPR008145 | Guanylate kinase/L-type calcium channel beta subunit |
| Domain | IPR046937 | Voltage-dependent L-type calcium channel subunit beta-1-4, N-terminal A domain |
| Family | IPR000584 | Voltage-dependent calcium channel, L-type, beta subunit |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Guanylate kinase/L-type calcium channel beta subunit | P-loop containing nucleoside triphosphate hydrolase | SH3 domain | SH3-like domain superfamily | Voltage-dependent calcium channel, L-type, beta subunit | Voltage-dependent L-type calcium channel subunit beta-1-4, N-terminal A domain |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:T2B3N4 | InterPro | 472 | ||||||
| UniProtKB:A0A8M9QFI8 | InterPro | 506 | ||||||
| UniProtKB:B0F0D1 | InterPro | 523 | ||||||
| UniProtKB:B0F0C6 | InterPro | 489 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| aberrant processed transcript |
cacnb4b-203
(1)
|
Ensembl | 3,038 nt | ||
| aberrant processed transcript |
cacnb4b-204
(1)
|
Ensembl | 3,188 nt | ||
| mRNA |
cacnb4b-201
(1)
|
Ensembl | 3,088 nt | ||
| mRNA |
cacnb4b-202
(1)
|
Ensembl | 3,238 nt |
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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 | CH211-107M8 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-29F19 | ||
| Contained in | BAC | DKEY-197I8 | ZFIN Curated Data | |
| Contained in | BAC | DKEYP-78G2 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:136550 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001040318 (1) | 3238 nt | ||
| Genomic | GenBank:BX323042 (1) | 206473 nt | ||
| Polypeptide | UniProtKB:B0F0D1 (1) | 523 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
- Hung, K.S., Hsiao, C.C., Pai, T.W., Hu, C.H., Tzou, W.S., Wang, W.D., Chen, Y.R. (2018) Functional enrichment analysis based on long noncoding RNA associations. BMC systems biology. 12:45
- 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
- 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
- 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
- Naranjo, D., Wen, H., Brehm, P. (2015) Zebrafish CaV2.1 Calcium Channels Are Tailored for Fast Synchronous Neuromuscular Transmission. Biophysical journal. 108:578-584
- Wen, H., Linhoff, M.W., Hubbard, J.M., Nelson, N.R., Stensland, D., Dallman, J., Mandel, G., and Brehm, P. (2013) Zebrafish calls for reinterpretation for the roles of p/q calcium channels in neuromuscular transmission. The Journal of neuroscience : the official journal of the Society for Neuroscience. 33(17):7384-7392
- Ebert, A.M., McAnelly, C.A., Handschy, A.V., Mueller, R.L., Horne, W.A., and Garrity, D.M. (2008) Genomic organization, expression, and phylogenetic analysis of Ca2+ channel β4 genes in 13 vertebrate species. Physiological Genomics. 35(2):133-144
- Ebert, A.M., McAnelly, C.A., Srinivasan, A., Linker, J.L., Horne, W.A., and Garrity, D.M. (2008) Ca2+ channel-independent requirement for MAGUK family CACNB4 genes in initiation of zebrafish epiboly. Proceedings of the National Academy of Sciences of the United States of America. 105(1):198-203
- Zhou, W., Horstick, E.J., Hirata, H., and Kuwada, J.Y. (2008) Identification and expression of voltage-gated calcium channel beta subunits in Zebrafish. Developmental Dynamics : an official publication of the American Association of Anatomists. 237(12):3842-3852
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