Gene
scn8ab
- ID
- ZDB-GENE-060906-2
- Name
- sodium channel, voltage gated, type VIII, alpha subunit b
- Symbol
- scn8ab Nomenclature History
- Previous Names
-
- zscn1 (1)
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to enable voltage-gated sodium channel activity. Acts upstream of or within axon regeneration and fin regeneration. Predicted to be located in plasma membrane. Predicted to be part of voltage-gated sodium channel complex. Predicted to be active in axon. Is expressed in bone tissue; heart; and nervous system. Human ortholog(s) of this gene implicated in benign familial infantile seizures 5 and developmental and epileptic encephalopathy 13. Orthologous to human SCN8A (sodium voltage-gated channel alpha subunit 8).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 7 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Osorio-Méndez et al., 2022
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| pd291 | Allele with one point mutation | Unknown | Missense | ENU | |
| sa2298 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa8756 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa9145 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa20765 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa33912 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa33913 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| pd298 | Allele with one deletion | Unknown | Unknown | CRISPR |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| benign familial infantile seizures 5 | Alliance | Seizures, benign familial infantile, 5 | 617080 |
| developmental and epileptic encephalopathy 13 | Alliance | Developmental and epileptic encephalopathy 13 | 614558 |
| Cognitive impairment with or without cerebellar ataxia | 614306 | ||
| ?Myoclonus, familial, 2 | 618364 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR005821 | Ion transport domain |
| Domain | IPR010526 | Sodium ion transport-associated domain |
| Domain | IPR024583 | Voltage-gated Na+ ion channel, cytoplasmic domain |
| Domain | IPR044564 | Voltage-gated sodium channel alpha subunit, inactivation gate |
| Family | IPR001696 | Voltage gated sodium channel, alpha subunit |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Ion transport domain | Sodium ion transport-associated domain | Voltage-dependent channel domain superfamily | Voltage-gated cation channel calcium and sodium | Voltage-gated Na+ ion channel, cytoplasmic domain | Voltage gated sodium channel, alpha-8 subunit | Voltage gated sodium channel, alpha subunit | Voltage-gated sodium channel alpha subunit, inactivation gate |
|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M3ATI6 | InterPro | 1958 | ||||||||
| UniProtKB:A0A8M2BDE6 | InterPro | 1969 | ||||||||
| UniProtKB:A0A8M9QAH6 | InterPro | 1969 | ||||||||
| UniProtKB:Q20JQ3 | InterPro | 1958 | ||||||||
| UniProtKB:A0A8M2BDI5 | InterPro | 1958 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
scn8ab-201
(1)
|
Ensembl | 5,877 nt | ||
| mRNA |
scn8ab-202
(1)
|
Ensembl | 6,036 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 | CH211-173N18 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-195M11 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001045183 (1) | 5877 nt | ||
| Genomic | GenBank:CR753817 (2) | 236737 nt | ||
| Polypeptide | UniProtKB:A0A8M2BDE6 (1) | 1969 aa |
- Osorio-Méndez, D., Miller, A., Begeman, I.J., Kurth, A., Hagle, R., Rolph, D., Dickson, A.L., Chen, C.H., Halloran, M., Poss, K.D., Kang, J. (2022) Voltage-gated sodium channel scn8a is required for innervation and regeneration of amputated adult zebrafish fins. Proceedings of the National Academy of Sciences of the United States of America. 119:e2200342119
- Griffin, A., Carpenter, C., Liu, J., Paterno, R., Grone, B., Hamling, K., Moog, M., Dinday, M.T., Figueroa, F., Anvar, M., Ononuju, C., Qu, T., Baraban, S.C. (2021) Phenotypic analysis of catastrophic childhood epilepsy genes. Communications biology. 4:680
- Wong, H.H., Seet, S.H., Maier, M., Gurel, A., Traspas, R.M., Lee, C., Zhang, S., Talim, B., Loh, A.Y.T., Chia, C.Y., Teoh, T.S., Sng, D., Rensvold, J., Unal, S., Shishkova, E., Cepni, E., Nathan, F.M., Sirota, F.L., Liang, C., Yarali, N., Simsek-Kiper, P.O., Mitani, T., Ceylaner, S., Arman-Bilir, O., Mbarek, H., Gumruk, F., Efthymiou, S., Uğurlu Çi Men, D., Georgiadou, D., Sotiropoulou, K., Houlden, H., Paul, F., Pehlivan, D., Lainé, C., Chai, G., Ali, N.A., Choo, S.C., Keng, S.S., Boisson, B., Yılmaz, E., Xue, S., Coon, J.J., Ly, T.T.N., Gilani, N., Hasbini, D., Kayserili, H., Zaki, M., Isfort, R.J., Ordonez, N., Tripolszki, K., Bauer, P., Rezaei, N., Seyedpour, S., Khotaei, G.T., Bascom, C.C., Maroofian, R., Chaabouni, M., Alsubhi, A., Eyaid, W., Işıkay, S., Gleeson, J.G., Lupski, J.R., Casanova, J.L., Pagliarini, D.J., Akarsu, N.A., Maurer-Stroh, S., Cetinkaya, A., Bertoli-Avella, A., Mathuru, A.S., Ho, L., Bard, F.A., Reversade, B. (2021) Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen storage-associated mitochondriopathy. American journal of human genetics. 108(7):1301-1317
- Yang, L., Jiang, H., Chen, J., Lei, Y., Sun, N., Lv, W., Near, T.J., He, S. (2019) Comparative Genomics Reveals Accelerated Evolution of Fright Reaction Genes in Ostariophysan Fishes. Frontiers in genetics. 10:1283
- Haverinen, J., Hassinen, M., Korajoki, H., Vornanen, M. (2018) Cardiac voltage-gated sodium channel expression and electrophysiological characterization of the sodium current in the zebrafish (Danio rerio) ventricle. Progress in Biophysics and Molecular Biology. 138:59-68
- 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
- Baraban, S.C., Dinday, M.T., and Hortopan, G.A. (2013) Drug screening in Scn1a zebrafish mutant identifies clemizole as a potential Dravet syndrome treatment. Nature communications. 4:2410
- Won, Y.J., Ono, F., and Ikeda, S.R. (2012) Characterization of na(+) and ca(2+) channels in zebrafish dorsal root ganglion neurons. PLoS One. 7(8):e42602
- Chopra, S.S., Stroud, D.M., Watanabe, H., Bennett, J.S., Burns, C.G., Wells, K.S., Yang, T., Zhong, T.P., and Roden, D.M. (2010) Voltage-Gated Sodium Channels Are Required for Heart Development in Zebrafish. Circulation research. 106(8):1342-1350
- Novak, A.E., Jost, M.C., Lu, Y., Taylor, A.D., Zakon, H.H., and Ribera, A.B. (2006) Gene duplications and evolution of vertebrate voltage-gated sodium channels. Journal of molecular evolution. 63(2):208-221
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