Gene
scn8aa
- ID
- ZDB-GENE-000828-1
- Name
- sodium channel, voltage gated, type VIII, alpha subunit a
- Symbol
- scn8aa Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Enables voltage-gated sodium channel activity. Acts upstream of or within several processes, including mechanosensory behavior; motor neuron axon guidance; and sodium ion transmembrane 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; nervous system; otic vesicle; and trigeminal placode. 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
- 21 figures from 14 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 18 figures from 6 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
la022612Tg | Transgenic insertion | Unknown | Unknown | DNA | |
la028527Tg | Transgenic insertion | Unknown | Unknown | DNA | |
mi89 | Allele with one point mutation | Unknown | Unknown | ENU | |
mi130 | Allele with one point mutation | Unknown | Missense | ENU | |
s3032 | Allele with one deletion | Exon 2 | Unknown | CRISPR | |
sa12919 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa31090 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa37728 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa43994 | Allele with one point mutation | Unknown | Splice Site | ENU | |
tW1752X | Allele with one point mutation | Exon 9 | Premature Stop | ENU |
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Targeting Reagent | Created Alleles | Citations |
---|---|---|
CRISPR1-scn8aa | Griffin et al., 2021 | |
MO1-scn8aa | N/A | (5) |
MO2-scn8aa | N/A | (2) |
MO3-scn8aa | N/A | Pineda et al., 2006 |
MO4-scn8aa | N/A | (3) |
MO5-scn8aa | N/A | Chen et al., 2008 |
MO6-scn8aa | N/A | Chen et al., 2008 |
MO7-scn8aa | N/A | Chen et al., 2008 |
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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:A0A8M3AYF6 | InterPro | 1949 | ||||||||
UniProtKB:Q9DF53 | InterPro | 1949 | ||||||||
UniProtKB:A0A8M9PT64 | InterPro | 1960 | ||||||||
UniProtKB:A0A8M2B935 | InterPro | 1960 | ||||||||
UniProtKB:A0A8M9P572 | InterPro | 1271 |
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Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
scn8aa-201
(1)
|
Ensembl | 6,814 nt | ||
mRNA |
scn8aa-202
(1)
|
Ensembl | 6,804 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
---|---|---|---|---|---|
Tg(scn8aa:EGFP) |
|
| 1 | (4) |
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Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | DKEY-9P24 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_131628 (1) | 6814 nt | ||
Genomic | GenBank:CR376824 (2) | 235026 nt | ||
Polypeptide | UniProtKB:A0A8M2B935 (1) | 1960 aa |
- Cansiz, D., Unal, I., Beler, M., Ustundag, U.V., Ak, E., Emekli-Alturfan, E., Alturfan, A.A. (2023) The Effect of Acetic Acid-Induced Pain in Parkinson's Disease Model in Zebrafish. Neurotoxicology. 99:14-23
- 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
- Dong, Z., Li, Y., Chen, X., Lai, X., Liu, M. (2020) A comparative study of the expression patterns of Fign family members in zebrafish embryonic development. Comparative biochemistry and physiology. Part B, Biochemistry & molecular biology. 251:110522
- Denichenko, P., Mogilevsky, M., Cléry, A., Welte, T., Biran, J., Shimshon, O., Barnabas, G.D., Danan-Gotthold, M., Kumar, S., Yavin, E., Levanon, E.Y., Allain, F.H., Geiger, T., Levkowitz, G., Karni, R. (2019) Specific inhibition of splicing factor activity by decoy RNA oligonucleotides. Nature communications. 10:1590
- 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
- Eijkenboom, I., Sopacua, M., Otten, A.B.C., Gerrits, M.M., Hoeijmakers, J.G.J., Waxman, S.G., Lombardi, R., Lauria, G., Merkies, I.S.J., Smeets, H.J.M., Faber, C.G., Vanoevelen, J.M., PROPANE Study Group (2018) Expression of pathogenic SCN9A mutations in the zebrafish: A model to study small fiber neuropathy. Experimental neurology. 311:257-264
- 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
- Ma, Z., Zhu, P., Pang, M., Guo, L., Chang, N., Zheng, J., Zhu, X., Gao, C., Huang, H., Cui, Z., Xiong, J.W., Peng, J., Chen, J. (2017) A novel inducible mutagenesis screen enables to isolate and clone both embryonic and adult zebrafish mutants. Scientific Reports. 7:10381
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