Gene
scn4ab
- ID
- ZDB-GENE-051201-1
- Name
- sodium channel, voltage-gated, type IV, alpha, b
- Symbol
- scn4ab Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to enable voltage-gated sodium channel activity. Predicted to be involved in several processes, including membrane depolarization during action potential; neuronal action potential; and sodium ion transmembrane transport. Predicted to act upstream of or within monoatomic ion transmembrane transport and sodium ion transport. 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 several structures, including gill; heart; mesoderm; musculature system; and nervous system. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 16; congenital myopathy 22A; congenital myopathy 22B; hyperkalemic periodic paralysis; and paramyotonia congenita of Von Eulenburg. Orthologous to human SCN4A (sodium voltage-gated channel alpha subunit 4).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 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 Patel et al., 2014
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa13421 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa13450 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa18126 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa18528 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa25245 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa26050 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa33152 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa40056 | 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 |
|---|---|---|---|
| congenital myasthenic syndrome 16 | Alliance | Myasthenic syndrome, congenital, 16 | 614198 |
| congenital myopathy 22A | Alliance | Congenital myopathy 22A, classic | 620351 |
| congenital myopathy 22B | Alliance | Congenital myopathy 22B, severe fetal | 620369 |
| hyperkalemic periodic paralysis | Alliance | Hyperkalemic periodic paralysis | 170500 |
| hypokalemic periodic paralysis | Alliance | Hypokalemic periodic paralysis, type 2 | 613345 |
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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 | IPR044564 | Voltage-gated sodium channel alpha subunit, inactivation gate |
| Family | IPR001696 | Voltage gated sodium channel, alpha subunit |
| Family | IPR043203 | Voltage-gated cation channel calcium and sodium |
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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 sodium channel, alpha subunit | Voltage-gated sodium channel alpha subunit, inactivation gate |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A2C9F1K3 | InterPro | 1835 | ||||||
| UniProtKB:Q20JQ7 | InterPro | 1784 | ||||||
| UniProtKB:A0AB32TKK4 | InterPro | 1835 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
scn4ab-201
(1)
|
Ensembl | 7,240 nt | ||
| mRNA |
scn4ab-202
(1)
|
Ensembl | 7,646 nt | ||
| mRNA |
scn4ab-203
(1)
|
Ensembl | 7,680 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-248K5 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:195116 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001045065 (1) | 5355 nt | ||
| Genomic | GenBank:BX005440 (1) | 115165 nt | ||
| Polypeptide | UniProtKB:A0A2C9F1K3 (1) | 1835 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
- Haverinen, J., Dzhumaniiazova, I., Abramochkin, D.V., Hassinen, M., Vornanen, M. (2021) Effects of Na+ channel isoforms and cellular environment on temperature tolerance of cardiac Na+ current in zebrafish (Danio rerio) and rainbow trout (Oncorhynchus mykiss). The Journal of experimental biology. 224(8):
- 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
- 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
- Patel, N., Smith, L.L., Faqeih, E., Mohamed, J., Gupta, V.A., Alkuraya, F.S. (2014) ZBTB42 Mutation Defines A Novel Lethal Congenital Contracture Syndrome (LCCS6). Human molecular genetics. 23(24):6584-93
- 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
- Machuca-Tzili, L.E., Buxton, S., Thorpe, A., Timson, C.M., Wigmore, P., Luther, P.K., and Brook, J.D. (2011) Zebrafish deficient for Muscleblind-like 2 exhibit features of myotonic dystrophy. Disease models & mechanisms. 4(3):381-392
- 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
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