Gene
scn12aa
- ID
- ZDB-GENE-060908-2
- Name
- sodium channel, voltage gated, type XII, alpha a
- Symbol
- scn12aa Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to enable voltage-gated sodium channel activity. Acts upstream of or within heart looping and regulation of heart contraction. 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 nervous system and pericardial region.
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 7 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 5 figures from Chopra et al., 2010
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa12084 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa12942 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa15768 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa19899 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa33047 | Allele with one point mutation | Unknown | Unknown | ENU | |
| sa39947 | Allele with one point mutation | Unknown | Unknown | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-scn12aa | N/A | (3) |
| MO2-scn12aa | N/A | Chopra et al., 2010 |
| MO3-scn12aa | N/A | Chiang et al., 2023 |
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Human Disease
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Binding_site | IPR000048 | IQ motif, EF-hand binding site |
| 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 |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Ion transport domain | IQ motif, EF-hand binding site | 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 subunit | Voltage-gated sodium channel alpha subunit, inactivation gate |
|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q20JQ5 | InterPro | 1932 | ||||||||
| UniProtKB:A0A8M3B7Z1 | InterPro | 1940 | ||||||||
| UniProtKB:A0AB32T6B6 | InterPro | 1932 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
scn12aa-201
(1)
|
Ensembl | 5,799 nt | ||
| mRNA |
scn12aa-202
(1)
|
Ensembl | 267 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 | CH211-137C4 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001044922 (1) | 5799 nt | ||
| Genomic | GenBank:BX908782 (1) | 178028 nt | ||
| Polypeptide | UniProtKB:A0A8M3B7Z1 (1) | 1940 aa |
No data available
- Chiang, D.Y., Verkerk, A.O., Victorio, R., Shneyer, B.I., van der Vaart, B., Jouni, M., Narendran, N., Kc, A., Sampognaro, J.R., Vetrano-Olsen, F., Oh, J.S., Buys, E., de Jonge, B., Shah, D.A., Kiviniemi, T., Burridge, P.W., Bezzina, C.R., Akhmanova, A., MacRae, C.A. (2023) The Role of MAPRE2 and Microtubules in Maintaining Normal Ventricular Conduction. Circulation research. 134(1):46-59
- Fang, C., Wang, P., Yu, D., Zhang, X., Gou, D., Liang, L., Bai, X., Xie, W., Li, H., Pu, J., Yao, Y., Wang, B., Ren, X., Ke, T., Tu, X., Xu, C., Wang, Q.K. (2022) Genome-Wide Association Study for Idiopathic Ventricular Tachyarrhythmias Identifies Key Role of CCR7 and PKN2 in Calcium Homeostasis and Cardiac Rhythm Maintenance. Circulation. Genomic and precision medicine. 15(5):e003603
- 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
- Chen, X., Li, W. (2021) Isoflucypram cardiovascular toxicity in zebrafish (Danio rerio). The Science of the total environment. 787:147529
- Marchal, G.A., Jouni, M., Chiang, D.Y., Pérez-Hernández Duran, M., Podliesna, S., Yu, N., Casini, S., Potet, F., Veerman, C.C., Klerk, M., Lodder, E.M., Mengarelli, I., Guan, K., Vanoye, C.G., Rothenberg, E., Charpentier, F., Redon, R., George, A., Verkerk, A.O., Bezzina, C.R., MacRae, C.A., Burridge, P., Delmar, M., Galjart, N.J., Portero, V., Remme, C.A. (2021) Targeting the Microtubule EB1-CLASP2 Complex Modulates NaV1.5 at Intercalated Discs. Circulation research. 129(3):349-365
- Gou, D., Zhou, J., Song, Q., Wang, Z., Bai, X., Zhang, Y., Zuo, M., Wang, F., Chen, A., Yousaf, M., Yang, Z., Peng, H., Li, K., Xie, W., Tang, J., Yao, Y., Han, M., Ke, T., Chen, Q., Xu, C., Wang, Q. (2020) Mog1 knockout causes cardiac hypertrophy and heart failure by downregulating tbx5-cryab-hspb2 signaling in zebrafish. Acta physiologica (Oxford, England). 231(3):e13567
- 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
- Zhou, J., Wang, L., Zuo, M., Wang, X., Ahmed, A.S., Chen, Q., Wang, Q.K. (2016) Cardiac sodium channel regulator MOG1 regulates cardiac morphogenesis and rhythm. Scientific Reports. 6:21538
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