Gene
scn4aa
- ID
- ZDB-GENE-051201-2
- Name
- sodium channel, voltage-gated, type IV, alpha, a
- Symbol
- scn4aa Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to enable voltage-gated sodium channel activity. Predicted to be involved in 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 heart; musculature system; nervous system; pectoral fin; and testis. 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
- 5 figures from 5 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 |
|---|---|---|---|---|---|
| sa1270 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa13933 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa16761 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa31853 | Allele with one point mutation | Unknown | Splice Site | 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:A0A0R4IJX4 | InterPro | 1829 | ||||||
| UniProtKB:Q2XVR3 | InterPro | 1829 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
scn4aa-201
(1)
|
Ensembl | 5,559 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 | CH211-93E11 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001039825 (1) | 5490 nt | ||
| Genomic | GenBank:BX323464 (1) | 167058 nt | ||
| Polypeptide | UniProtKB:A0A0R4IJX4 (1) | 1829 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
- Postlethwait, J.H., Massaquoi, M.S., Farnsworth, D.R., Yan, Y.L., Guillemin, K., Miller, A.C. (2021) The SARS-CoV-2 receptor and other key components of the Renin-Angiotensin-Aldosterone System related to COVID-19 are expressed in enterocytes in larval zebrafish. Biology Open. 10(3):
- Wang, Y., Yang, L. (2021) Genomic Evidence for Convergent Molecular Adaptation in Electric Fishes. Genome biology and evolution. 13(3):
- Postlethwait, J.H., Farnsworth, D.R., Miller, A.C. (2020) An intestinal cell type in zebrafish is the nexus for the SARS-CoV-2 receptor and the Renin-Angiotensin-Aldosterone System that contributes to COVID-19 comorbidities. ZFIN Direct Data Submission.
- 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
- 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
- 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
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