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# | Reference Title | Reference Citation |
1. | Expression and intracellular localization of an SCN5A double mutant R1232W/T1620M implicated in Brugada syndrome. | Baroudi G, etal., Circ Res 2002 Jan 11;90(1):E11-6. |
2. | Odontoblasts in developing, mature and ageing rat teeth have multiple phenotypes that variably express all nine voltage-gated sodium channels. | Byers MR and Westenbroek RE, Arch Oral Biol. 2011 Nov;56(11):1199-220. |
3. | Characterization of sodium channel alpha- and beta-subunits in rat and mouse cardiac myocytes. | Dhar Malhotra J, etal., Circulation. 2001 Mar 6;103(9):1303-10. |
4. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
5. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
6. | [Expression and function of voltage-gated Na+ channel isoforms in rat sinoatrial node]. | Huang X, etal., Nan Fang Yi Ke Da Xue Xue Bao. 2007 Jan;27(1):52-5. |
7. | High-density rat radiation hybrid maps containing over 24,000 SSLPs, genes, and ESTs provide a direct link to the rat genome sequence. | Kwitek AE, etal., Genome Res. 2004 Apr;14(4):750-7 |
8. | Modulation of the cardiac sodium channel Nav1.5 by fibroblast growth factor homologous factor 1B. | Liu CJ, etal., J Biol Chem. 2003 Jan 10;278(2):1029-36. Epub 2002 Oct 24. |
9. | Voltage-gated Nav channel targeting in the heart requires an ankyrin-G dependent cellular pathway. | Lowe JS, etal., J Cell Biol. 2008 Jan 14;180(1):173-86. Epub 2008 Jan 7. |
10. | Drug-induced long-QT syndrome associated with a subclinical SCN5A mutation. | Makita N, etal., Circulation 2002 Sep 3;106(10):1269-74. |
11. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
12. | Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes. | Mohler PJ, etal., Proc Natl Acad Sci U S A. 2004 Dec 14;101(50):17533-8. Epub 2004 Dec 3. |
13. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
14. | Remodeling of the cardiac sodium channel, connexin43, and plakoglobin at the intercalated disk in patients with arrhythmogenic cardiomyopathy. | Noorman M, etal., Heart Rhythm. 2013 Mar;10(3):412-9. doi: 10.1016/j.hrthm.2012.11.018. Epub 2012 Nov 23. |
15. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
16. | SMPDB Annotation Import Pipeline | Pipeline to import SMPDB annotations from SMPDB into RGD |
17. | Cloning and expression of the two new variants of Nav1.5/SCN5A in rat brain. | Ren CT, etal., Mol Cell Biochem. 2012 Jun;365(1-2):139-48. Epub 2012 Feb 14. |
18. | GOA pipeline | RGD automated data pipeline |
19. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
20. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
21. | Molecular cloning of a putative tetrodotoxin-resistant rat heart Na+ channel isoform. | Rogart RB, etal., Proc Natl Acad Sci U S A 1989 Oct;86(20):8170-4. |
22. | New therapeutic targets in cardiology: arrhythmias and Ca2+/calmodulin-dependent kinase II (CaMKII). | Rokita AG and Anderson ME, Circulation. 2012 Oct 23;126(17):2125-39. doi: 10.1161/CIRCULATIONAHA.112.124990. |
23. | Loss of plakophilin-2 expression leads to decreased sodium current and slower conduction velocity in cultured cardiac myocytes. | Sato PY, etal., Circ Res. 2009 Sep 11;105(6):523-6. Epub 2009 Aug 6. |
24. | Interactions between ankyrin-G, Plakophilin-2, and Connexin43 at the cardiac intercalated disc. | Sato PY, etal., Circ Res. 2011 Jul 8;109(2):193-201. Epub 2011 May 26. |
25. | Fibrillation potentials of denervated rat skeletal muscle are associated with expression of cardiac-type voltage-gated sodium channel isoform Nav1.5. | Sekiguchi K, etal., Clin Neurophysiol. 2012 Feb 13. |
26. | An antisense oligonucleotide against H1 inhibits the classical sodium current but not ICa(TTX) in rat ventricular cells. | Sha Q, etal., J Physiol. 2003 Mar 1;547(Pt 2):435-40. Epub 2003 Jan 24. |
27. | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. | Tester DJ, etal., Heart Rhythm. 2005 May;2(5):507-17. |
28. | Ionic mechanisms underlying action potential prolongation by focal cerebral ischemia in rat ventricular myocytes. | Wang L, etal., Cell Physiol Biochem. 2009;23(4-6):305-16. Epub 2009 May 6. |
29. | Involvement of Kv1.1 and Nav1.5 in proliferation of gastric epithelial cells. | Wu WK, etal., J Cell Physiol. 2006 May;207(2):437-44. |
30. | Increased late sodium currents are related to transcription of neuronal isoforms in a pressure-overload model. | Xi Y, etal., Eur J Heart Fail. 2009 Aug;11(8):749-57. Epub 2009 Jul 7. |
31. | A common variant alters SCN5A-miR-24 interaction and associates with heart failure mortality. | Zhang X, etal., J Clin Invest. 2018 Mar 1;128(3):1154-1163. doi: 10.1172/JCI95710. Epub 2018 Feb 19. |
32. | Predicting Patient Response to the Antiarrhythmic Mexiletine Based on Genetic Variation: Personalized Medicine for Long QT Syndrome. | Zhu W, etal., Circ Res. 2018 Dec 18. doi: 10.1161/CIRCRESAHA.118.314050. |
PMID:7889574 | PMID:8286044 | PMID:8889548 | PMID:10471492 | PMID:11834499 | PMID:11972032 | PMID:14500339 | PMID:15047701 | PMID:15217910 | PMID:15272007 | PMID:15746173 | PMID:15809371 |
PMID:15932895 | PMID:16115203 | PMID:16172272 | PMID:16728661 | PMID:16966585 | PMID:17060380 | PMID:17592081 | PMID:17884088 | PMID:17900547 | PMID:18032528 | PMID:18065446 | PMID:18178574 |
PMID:18184654 | PMID:18591664 | PMID:18616619 | PMID:19074138 | PMID:19167345 | PMID:19376164 | PMID:19666841 | PMID:19745168 | PMID:19808477 | PMID:19943616 | PMID:20042427 | PMID:20517693 |
PMID:20724705 | PMID:20877009 | PMID:21051419 | PMID:21164104 | PMID:21167176 | PMID:21677263 | PMID:21817159 | PMID:21895525 | PMID:22247482 | PMID:22514276 | PMID:22529811 | PMID:22766342 |
PMID:22811280 | PMID:23085483 | PMID:23420830 | PMID:23684688 | PMID:24998131 | PMID:25850710 | PMID:26059563 | PMID:26067667 | PMID:26187182 | PMID:26279430 | PMID:26392562 | PMID:26459913 |
PMID:26786162 | PMID:27861438 | PMID:28205593 | PMID:29184507 | PMID:29393394 | PMID:29514831 | PMID:30506890 | PMID:30772377 | PMID:30860472 | PMID:32046907 | PMID:33145656 | PMID:33397917 |
PMID:33803193 | PMID:34520724 | PMID:35384053 |
Scn5a (Rattus norvegicus - Norway rat) |
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SCN5A (Homo sapiens - human) |
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Scn5a (Mus musculus - house mouse) |
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Scn5a (Chinchilla lanigera - long-tailed chinchilla) |
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SCN5A (Pan paniscus - bonobo/pygmy chimpanzee) |
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SCN5A (Canis lupus familiaris - dog) |
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Scn5a (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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SCN5A (Sus scrofa - pig) |
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SCN5A (Chlorocebus sabaeus - green monkey) |
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Scn5a (Heterocephalus glaber - naked mole-rat) |
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Variants in Scn5a
498 total Variants |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
D8Wox12 |
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BI294104 |
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RH94513 |
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Scn3a |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | appendage | |
High | |||||||||||||
Medium | 43 | ||||||||||||
Low | 1 | 4 | 2 | 4 | 2 | 1 | 1 | 60 | 14 | 10 | 1 | ||
Below cutoff | 2 | 51 | 37 | 15 | 37 | 7 | 10 | 14 | 27 | 27 | 1 | 7 |
RefSeq Transcripts | NM_001160162 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_013125 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006244076 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017595481 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017595482 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039080899 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039080900 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039080901 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC094738 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF353637 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ623272 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CV796639 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FM058340 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAXUCZ010000008 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L11243 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M27902 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000064555 ⟹ ENSRNOP00000060180 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000066932 ⟹ ENSRNOP00000060586 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000082892 ⟹ ENSRNOP00000069875 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001160162 ⟹ NP_001153634 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_013125 ⟹ NP_037257 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017595481 ⟹ XP_017450970 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039080899 ⟹ XP_038936827 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039080900 ⟹ XP_038936828 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039080901 ⟹ XP_038936829 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Protein RefSeqs | NP_001153634 | (Get FASTA) | NCBI Sequence Viewer |
NP_037257 | (Get FASTA) | NCBI Sequence Viewer | |
XP_017450970 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038936827 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038936828 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038936829 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAA42114 | (Get FASTA) | NCBI Sequence Viewer |
AAK38884 | (Get FASTA) | NCBI Sequence Viewer | |
CAF25042 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000060180 | ||
ENSRNOP00000060180.3 | |||
ENSRNOP00000060586 | |||
ENSRNOP00000060586.2 | |||
ENSRNOP00000069875 | |||
ENSRNOP00000069875.2 | |||
GenBank Protein | P15389 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_037257 ⟸ NM_013125 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q925G6 (UniProtKB/Swiss-Prot), P15389 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001153634 ⟸ NM_001160162 |
- Peptide Label: | isoform 2 |
- UniProtKB: | F1LNF5 (UniProtKB/TrEMBL), A6I3X4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_017450970 ⟸ XM_017595481 |
- Peptide Label: | isoform X3 |
- UniProtKB: | Q925G6 (UniProtKB/Swiss-Prot), P15389 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000069875 ⟸ ENSRNOT00000082892 |
RefSeq Acc Id: | ENSRNOP00000060586 ⟸ ENSRNOT00000066932 |
RefSeq Acc Id: | ENSRNOP00000060180 ⟸ ENSRNOT00000064555 |
RefSeq Acc Id: | XP_038936828 ⟸ XM_039080900 |
- Peptide Label: | isoform X2 |
- UniProtKB: | Q925G6 (UniProtKB/Swiss-Prot), P15389 (UniProtKB/Swiss-Prot), A0A0G2JWG8 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038936827 ⟸ XM_039080899 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q925G6 (UniProtKB/Swiss-Prot), P15389 (UniProtKB/Swiss-Prot), F1LPK3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038936829 ⟸ XM_039080901 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A6I3X4 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P15389-F1-model_v2 | AlphaFold | P15389 | 1-2019 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
Database | Acc Id | Source(s) |
AGR Gene | RGD:3637 | AgrOrtholog |
BioCyc Gene | G2FUF-28785 | BioCyc |
Ensembl Genes | ENSRNOG00000015049 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000064555.4 | UniProtKB/TrEMBL |
ENSRNOT00000066932 | ENTREZGENE | |
ENSRNOT00000066932.5 | UniProtKB/TrEMBL | |
ENSRNOT00000082892.2 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.10.287.70 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
1.20.120.350 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
EF-hand | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
iswi atpase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
InterPro | Ion_trans_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Na_channel_a5su | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Na_channel_asu | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Na_chnl_inactivation_gate | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Na_trans_assoc | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Na_trans_cytopl | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
VGCC_Ca_Na | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Volt_channel_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | rno:25665 | UniProtKB/Swiss-Prot |
NCBI Gene | 25665 | ENTREZGENE |
PANTHER | PTHR10037 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SODIUM CHANNEL PROTEIN TYPE 5 SUBUNIT ALPHA | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Ion_trans | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Na_trans_assoc | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Na_trans_cytopl | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | SCN5A | RGD |
PhenoGen | Scn5a | PhenoGen |
PRINTS | NACHANNEL | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NACHANNEL5 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RatGTEx | ENSRNOG00000015049 | RatGTEx |
Superfamily-SCOP | Voltage-gated potassium channels | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A0G2JWG8 | ENTREZGENE, UniProtKB/TrEMBL |
A4ZYR8_RAT | UniProtKB/TrEMBL | |
A6I3X4 | ENTREZGENE, UniProtKB/TrEMBL | |
F1LNF5 | ENTREZGENE, UniProtKB/TrEMBL | |
F1LPK3 | ENTREZGENE, UniProtKB/TrEMBL | |
P15389 | ENTREZGENE | |
Q6EWG5_RAT | UniProtKB/TrEMBL | |
Q925G6 | ENTREZGENE | |
SCN5A_RAT | UniProtKB/Swiss-Prot | |
UniProt Secondary | Q925G6 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-02-11 | Scn5a | sodium voltage-gated channel alpha subunit 5 | Scn5a | sodium channel, voltage-gated, type V, alpha subunit | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2010-09-16 | Scn5a | sodium channel, voltage-gated, type V, alpha subunit | Scn5a | sodium channel, voltage-gated, type V, alpha | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2009-12-15 | Scn5a | sodium channel, voltage-gated, type V, alpha | Scn5a | sodium channel, voltage-gated, type V, alpha subunit | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2009-05-18 | Scn5a | sodium channel, voltage-gated, type V, alpha subunit | Scn5a | sodium channel, voltage-gated, type 5, alpha subunit | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-02-15 | Scn5a | sodium channel, voltage-gated, type 5, alpha subunit | Scn5a | sodium channel, voltage-gated, type V, alpha polypeptide | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2002-06-10 | Scn5a | Sodium channel, voltage-gated, type V, alpha polypeptide | Symbol and Name status set to approved | 70586 | APPROVED |
Note Type | Note | Reference |
---|---|---|
gene_disease | mutation of the human homolog cause Brugada syndrome, a cardiac disorder that leads to ventricular fibrillation and sudden death | 735235 |