SCN9A - sodium voltage-gated channel alpha subunit 9 Gene
Also Known as PN1; ETHA; NENA; SFNP; FEB3B; NE-NA; GEFSP7; HSAN2D; Nav1.7
Species: Homo sapiens
About SCN9A
This gene has 13 transcripts (splice variants), 111 orthologues, 26 paralogues and is associated with 12 phenotypes. Broad expression in testis (RPKM 3.8), placenta (RPKM 2.0) and 20 other tissues.
Summary
This gene encodes a voltage-gated Sodium Channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associated insensitivity to pain, and paroxysmal extreme pain disorder. [provided by RefSeq, Aug 2009]
SCN9A Products (8)
| mRNA | Protein | Name |
|---|---|---|
| XR_001738886.2 | ||
| NM_002977.3 | NP_002968.1 | sodium channel protein type 9 subunit alpha isoform 1 |
| XM_017004669.2 | XP_016860158.1 | sodium channel protein type 9 subunit alpha isoform X4 |
| XM_011511619.3 | XP_011509921.1 | sodium channel protein type 9 subunit alpha isoform X5 |
| XM_011511616.4 | XP_011509918.1 | sodium channel protein type 9 subunit alpha isoform X2 |
| XM_011511617.3 | XP_011509919.1 | sodium channel protein type 9 subunit alpha isoform X1 |
| NM_001365536.1 | NP_001352465.1 | sodium channel protein type 9 subunit alpha isoform 2 |
| XM_011511618.3 | XP_011509920.1 | sodium channel protein type 9 subunit alpha isoform X3 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
37117223 | GOA |
| enables voltage-gated sodium channel activity |
IDA
IDA: Inferred from direct assay
|
7720699 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in action potential propagation |
IDA
IDA: Inferred from direct assay
|
7720699 | GOA |
| involved in neuronal action potential |
IDA
IDA: Inferred from direct assay
|
30795902 | GOA |
| involved in sensory perception of pain |
IMP
IMP: Inferred from mutant phenotype
|
17145499 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in axon terminus |
IDA
IDA: Inferred from direct assay
|
30795902 | GOA |
| located in node of Ranvier |
IDA
IDA: Inferred from direct assay
|
30795902 | GOA |
| located in plasma membrane |
IMP
IMP: Inferred from mutant phenotype
|
17145499 | GOA |
SCN9A Protein Structure
Ion_trans: Ion transport protein (156 - 402)
Na_trans_cytopl: Cytoplasmic domain of voltage-gated Na+ ion channel (464 - 695)
Ion_trans: Ion transport protein (780 - 967)
Na_trans_assoc: Sodium ion transport-associated (983 - 1203)
Ion_trans: Ion transport protein (1229 - 1457)
Ion_trans: Ion transport protein (1550 - 1760)
- 0
- 400
- 800
- 1200
- 1600
- 1989 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
sodium channel protein type 9 subunit alpha |
|
|
SCN9A Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P810925 | Nav1.7 Antibody | WB, IHC-P | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Migraine With Or Without Aura 1 |
|
|
| Episodic Pain Syndrome, Familial, 3 |
|
|
| Epilepsy |
|
|
| Fibromyalgia |
|
|
| Generalized Epilepsy With Febrile Seizures Plus |
|
|
| Epilepsy, Idiopathic Generalized |
|
|
| Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
|
| Agnosia |
|
|
| Glossopharyngeal Neuralgia |
|
|
| Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
|
| Familial Episodic Pain Syndrome |
|
|
| Familial Hemiplegic Migraine |
|
|
| Migraine With Aura |
|
|
| Hereditary Sensory Neuropathy |
|
|
| Paine Syndrome |
|
|
| Burning Mouth Syndrome |
|
|
| Paramyotonia Congenita Of Von Eulenburg |
|
|
| Acute Salpingo-Oophoritis |
|
|
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
|
| Long Qt Syndrome |
|
|
| Trigeminal Nerve Disease |
|
|
| Neuropathy |
|
|
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
|
| Febrile Seizures |
|
|
| Somatoform Disorder |
|
|
| Erythermalgia, Primary |
|
|
| Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
|
| Nervous System Disease |
|
|
| Brugada Syndrome |
|
|
| Causalgia |
|
|
| Episodic Pain Syndrome, Familial, 2 |
|
|
| Paroxysmal Extreme Pain Disorder |
|
|
| Erythromelalgia |
|
|
| Lennox-Gastaut Syndrome |
|
|
| Diabetic Neuropathy |
|
|
| Peripheral Nervous System Disease |
|
|
| Sodium Channelopathy-Related Small Fiber Neuropathy |
|
|
| Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
|
| Benign Epilepsy With Centrotemporal Spikes |
|
|
| Pain Agnosia |
|
|
| Familial Febrile Seizures |
|
|
| Benign Familial Infantile Epilepsy |
|
|
| Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
|
| Brugada Syndrome 1 |
|
|
| Anhidrosis |
|
|
| Trigeminal Neuralgia |
|
|
| Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
|
| Neurogenic Arthropathy |
|
|
| Complex Regional Pain Syndrome |
|
|
| Reflex Sympathetic Dystrophy |
|
|
| Migraine, Familial Hemiplegic, 3 |
|
|
| Chronic Pain |
|
|
| Developmental And Epileptic Encephalopathy |
|
|
| Hyperkalemic Periodic Paralysis |
|
|
| Early Infantile Epileptic Encephalopathy |
|
|
| Autism |
|
|
| Herpes Zoster Oticus |
|
|
| Dravet Syndrome |
|
|
| Autonomic Nervous System Disease |
|
|
| Diabetic Polyneuropathy |
|
|
| West Syndrome |
|
|
| Indifference To Pain, Congenital, Autosomal Recessive |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | SCN9A | VGNC | VGNC:76990 |
| Canis familiaris | SCN9A | VGNC | VGNC:45924 |
| Mus musculus | SCN9A | MGD | MGI:107636 |
| Rattus norvegicus | SCN9A | RGD | RGD:69368 |
| Felis catus | SCN9A | VGNC | VGNC:64928 |
| Bos taurus | SCN9A | VGNC | VGNC:34355 |
| Others | SCN9A | NCBI |