SCN10A - sodium voltage-gated channel alpha subunit 10 Gene
Also Known as PN3; SNS; FEPS2; Nav1.8
Species: Homo sapiens
About SCN10A
This gene has 3 transcripts (splice variants), 331 orthologues, 26 paralogues and is associated with 7 phenotypes. Low expression observed in reference dataset.
Summary
The protein encoded by this gene is a tetrodotoxin-resistant voltage-gated Sodium Channel alpha subunit. The properties of the channel formed by the encoded transmembrane protein can be altered by interaction with different beta subunits. This protein may be involved in the onset of pain associated with peripheral neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
SCN10A Products (6)
| mRNA | Protein | Name |
|---|---|---|
| NM_001293306.2 | NP_001280235.2 | sodium channel protein type 10 subunit alpha isoform 2 |
| NM_001293307.2 | NP_001280236.2 | sodium channel protein type 10 subunit alpha isoform 3 |
| NM_006514.4 | NP_006505.4 | sodium channel protein type 10 subunit alpha isoform 1 |
| XM_011533993.3 | XP_011532295.1 | sodium channel protein type 10 subunit alpha isoform X2 |
| XM_005265371.4 | XP_005265428.1 | sodium channel protein type 10 subunit alpha isoform X1 |
| XM_011533994.3 | XP_011532296.1 | sodium channel protein type 10 subunit alpha isoform X3 |
| Molecular Function GO Annotation | Evidence | Referencias | Source |
|---|---|---|---|
| enables transmembrane transporter binding |
IPI
IPI: Inferred from physical interaction
|
24998131 | GOA |
| enables voltage-gated sodium channel activity |
IDA
IDA: Inferred from direct assay
|
9839820 | GOA |
| enables voltage-gated sodium channel activity |
IMP
IMP: Inferred from mutant phenotype
|
23115331 | GOA |
| Biological Process GO Annotation | Evidence | Referencias | Source |
|---|---|---|---|
| involved in AV node cell action potential |
IMP
IMP: Inferred from mutant phenotype
|
24998131 | GOA |
| involved in bundle of His cell action potential |
IMP
IMP: Inferred from mutant phenotype
|
24998131 | GOA |
| involved in membrane depolarization during action potential |
IMP
IMP: Inferred from mutant phenotype
|
23115331 | GOA |
| involved in regulation of atrial cardiac muscle cell membrane depolarization |
IMP
IMP: Inferred from mutant phenotype
|
20062061 | GOA |
| involved in regulation of cardiac muscle contraction |
IMP
IMP: Inferred from mutant phenotype
|
20062061 | GOA |
| involved in regulation of heart rate |
IMP
IMP: Inferred from mutant phenotype
|
20062061 | GOA |
| involved in regulation of monoatomic ion transmembrane transport |
IDA
IDA: Inferred from direct assay
|
9839820 | GOA |
| involved in sodium ion transmembrane transport |
IDA
IDA: Inferred from direct assay
|
9839820 | GOA |
| Cellular Component GO Annotation | Evidence | Referencias | Source |
|---|---|---|---|
| is active in plasma membrane |
IDA
IDA: Inferred from direct assay
|
23115331 | GOA |
| part of voltage-gated sodium channel complex |
IDA
IDA: Inferred from direct assay
|
9839820 | GOA |
SCN10A Protein Structure
Ion_trans: Ion transport protein (156 - 396)
Ion_trans: Ion transport protein (700 - 888)
Na_trans_assoc: Sodium ion transport-associated (904 - 1162)
Ion_trans: Ion transport protein (1189 - 1417)
Ion_trans: Ion transport protein (1511 - 1721)
- 0
- 400
- 800
- 1200
- 1600
- 1956 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
sodium channel protein type 10 subunit alpha |
|
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Penile Benign Neoplasm |
|
|
| Trigeminal Neuralgia |
|
|
| Laurence-Moon Syndrome |
|
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| Long Qt Syndrome |
|
|
| Heart Conduction Disease |
|
|
| Developmental And Epileptic Encephalopathy |
|
|
| Episodic Pain Syndrome, Familial, 2 |
|
|
| Erythromelalgia |
|
|
| Neuroma |
|
|
| Diabetic Polyneuropathy |
|
|
| Bladder Clear Cell Adenocarcinoma |
|
|
| West Syndrome |
|
|
| Familial Atrial Fibrillation |
|
|
| Pain Agnosia |
|
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| Migraine With Or Without Aura 1 |
|
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| Episodic Pain Syndrome, Familial, 3 |
|
|
| Diabetic Neuropathy |
|
|
| Generalized Epilepsy With Febrile Seizures Plus |
|
|
| Brugada Syndrome 1 |
|
|
| Penile Cancer |
|
|
| Agnosia |
|
|
| Hard Palate Cancer |
|
|
| Penile Disease |
|
|
| Complex Regional Pain Syndrome |
|
|
| Gastric Diffuse Adenocarcinoma |
|
|
| Familial Episodic Pain Syndrome |
|
|
| Trigeminal Nerve Disease |
|
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| Neuropathy |
|
|
| Dravet Syndrome |
|
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| Autonomic Nervous System Disease |
|
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| Sinoatrial Node Disease |
|
|
| Indifference To Pain, Congenital, Autosomal Recessive |
|
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| Somatoform Disorder |
|
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| Brugada Syndrome |
|
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| Causalgia |
|
|
| Sick Sinus Syndrome |
|
|
| Long Qt Syndrome 1 |
|
|
| Linitis Plastica |
|
|
| Dilated Cardiomyopathy |
|
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| Paroxysmal Extreme Pain Disorder |
|
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| Sodium Channelopathy-Related Small Fiber Neuropathy |
|
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| Lymphocele |
|
|
| Peripheral Nervous System Disease |
|
|
| Paine Syndrome |
|
|
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | SCN10A | VGNC | VGNC:34343 |
| Mus musculus | SCN10A | MGD | MGI:108029 |
| Felis catus | SCN10A | VGNC | VGNC:64918 |
| Canis familiaris | SCN10A | VGNC | VGNC:45913 |
| Rattus norvegicus | SCN10A | RGD | RGD:3629 |
| Macaca mulatta | SCN10A | VGNC | VGNC:76980 |
| Others | SCN10A | NCBI |