Scn4a - sodium channel, voltage-gated, type IV, alpha Gene
Also Known as mH2; SkM1; Nav1.4
Species: Mus musculus
About Scn4a
This gene has 2 transcripts (splice variants), 191 orthologues, 26 paralogues and is associated with 39 phenotypes. Biased expression in mammary gland adult (RPKM 6.9), heart adult (RPKM 4.1) and 3 other tissues.
Summary
Enables voltage-gated Sodium Channel activity. Acts upstream of or within sodium ion transport. Predicted to be integral component of plasma membrane. Predicted to be part of voltage-gated Sodium Channel complex. Predicted to be active in axon. Is expressed in heart; heart ventricle; and testis. Used to study hyperkalemic periodic paralysis and hypokalemic periodic paralysis. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 16; hyperkalemic periodic paralysis; and paramyotonia congenita of Von Eulenburg. Orthologous to human SCN4A (sodium voltage-gated channel alpha subunit 4). [provided by Alliance of Genome Resources, Apr 2022]
Scn4a Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_133199.3 | NP_573462.2 | sodium channel protein type 4 subunit alpha |
| NM_001403641.1 | NP_001390570.1 | sodium channel protein type 4 subunit alpha |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables voltage-gated sodium channel activity |
IDA
IDA: Inferred from direct assay
|
11834499 | MGI |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of or within sodium ion transport |
IDA
IDA: Inferred from direct assay
|
11834499 | MGI |
Scn4a Protein Structure
Ion_trans: pfam00520 (129 - 450)
Ion_trans: pfam00520 (570 - 783)
Na_trans_assoc: pfam06512 (809 - 1019)
Ion_trans: pfam00520 (1023 - 1297)
Na_channel_gate: cd13433 (1289 - 1341)
Ion_trans: pfam00520 (1346 - 1602)
- 0
- 300
- 600
- 900
- 1200
- 1500
- 1841 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
sodium channel protein type 4 subunit alpha |
|
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