Gene
cacnb4a
- ID
- ZDB-GENE-080320-2
- Name
- calcium channel, voltage-dependent, beta 4a subunit
- Symbol
- cacnb4a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to enable high 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 cardiovascular system; nervous system; pleuroperitoneal region; presumptive neural retina; 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
- 5 figures from 3 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
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa34703 | 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 |
|---|---|---|---|
| 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 |
| Family | IPR008079 | Voltage-dependent calcium channel, L-type, beta-3 subunit |
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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-3 subunit | Voltage-dependent calcium channel, L-type, beta subunit | Voltage-dependent L-type calcium channel subunit beta-1-4, N-terminal A domain |
|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A8WHZ5 | InterPro | 485 | |||||||
| UniProtKB:B0F0D0 | InterPro | 519 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
cacnb4a-201
(1)
|
Ensembl | 2,422 nt | ||
| mRNA |
cacnb4a-202
(1)
|
Ensembl | 1,568 nt | ||
| mRNA |
cacnb4a-203
(1)
|
Ensembl | 1,497 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 | DKEY-219C10 | ||
| Encodes | cDNA | MGC:198320 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:198324 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001113519 (1) | 2446 nt | ||
| Genomic | GenBank:BX548038 (1) | 173526 nt | ||
| Polypeptide | UniProtKB:B0F0D0 (1) | 519 aa |
- 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
- Chiavacci, E., D'Aurizio, R., Guzzolino, E., Russo, F., Baumgart, M., Groth, M., Mariani, L., D'Onofrio, M., Arisi, I., Pellegrini, M., Cellerino, A., Cremisi, F., Pitto, L. (2015) MicroRNA 19a replacement partially rescues fin and cardiac defects in zebrafish model of Holt Oram syndrome. Scientific Reports. 5:18240
- 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
- Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903
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