SCN11A Chromosome 3
Sodium voltage-gated channel alpha subunit 11
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What This Gene Does
Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is highly expressed in nociceptive neurons of dorsal root ganglia and trigeminal ganglia. It mediates brain-derived neurotrophic factor-evoked membrane depolarization and is a major effector of peripheral inflammatory pain hypersensitivity. Mutations in this gene have been associated with hereditary sensory and autonomic neuropathy type VII and familial episodic pain syndrome-3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017]
Gene Info
Gene Group
Sodium voltage-gated channel alpha subunits
Locus Type
gene with protein product
Location
3p22.2
Ensembl
ENSG00000168356
Associated Conditions (8)
Hereditary sensory and autonomic neuropathy type 7
Familial episodic pain syndrome with predominantly lower limb involvement
Inborn genetic diseases
Charcot-Marie-Tooth disease
SCN11A-related disorder
Hereditary motor neuron disease
Limb-girdle muscular dystrophy
Congenital sensory neuropathy with selective loss of small myelinated fibers
Key Variants
RS1006611330
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement, Inborn genetic diseases
Health Risk
RS1050521607
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement, Inborn genetic diseases
Health Risk
RS113359492
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement, Inborn genetic diseases
Health Risk
RS114854233
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement, Inborn genetic diseases
Health Risk
RS1398192783
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement, Hereditary sensory and autonomic neuropathy type 7
Health Risk
RS1406348004
Conflicting classifications of pathogenicity
Familial episodic pain syndrome with predominantly lower limb involvement, Hereditary sensory and autonomic neuropathy type 7, Inborn genetic diseases
Health Risk
RS141228634
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement, Charcot-Marie-Tooth disease
Health Risk
RS141457896
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement, Inborn genetic diseases
Health Risk
RS141686175
Conflicting classifications of pathogenicity
Familial episodic pain syndrome with predominantly lower limb involvement, Hereditary sensory and autonomic neuropathy type 7, Inborn genetic diseases
Health Risk
RS145734191
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement, Charcot-Marie-Tooth disease
Health Risk
RS146942592
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement, Inborn genetic diseases
Health Risk
RS147061364
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement, Hereditary sensory and autonomic neuropathy type 7
Health Risk
All Variants (80)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS754609828 | Health Risk | Conflicting classifications of pathogenicity | Familial episodic pain syndrome with predominantly lower limb involvement, Hereditary sensory and autonomic neuropathy type 7, Inborn genetic diseases |
| RS754864849 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement, Inborn genetic diseases |
| RS756182817 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement, Inborn genetic diseases |
| RS756659644 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement |
| RS757316631 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement, Inborn genetic diseases |
| RS758506159 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement, Hereditary sensory and autonomic neuropathy type 7 |
| RS759255427 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement, Inborn genetic diseases |
| RS759694252 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement, Inborn genetic diseases |
| RS759807932 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement, Inborn genetic diseases |
| RS759827115 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement, Inborn genetic diseases |
| RS767279633 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement, Inborn genetic diseases |
| RS768604445 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Familial episodic pain syndrome with predominantly lower limb involvement, Hereditary sensory and autonomic neuropathy type 7 |
| RS768647693 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy type 7, Inborn genetic diseases, Familial episodic pain syndrome with predominantly lower limb involvement |
| RS769224387 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement, Inborn genetic diseases |
| RS769546986 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement |
| RS771965444 | Health Risk | Conflicting classifications of pathogenicity | Familial episodic pain syndrome with predominantly lower limb involvement, Hereditary sensory and autonomic neuropathy type 7, Inborn genetic diseases |
| RS773317280 | Health Risk | Conflicting classifications of pathogenicity | Familial episodic pain syndrome with predominantly lower limb involvement, Hereditary sensory and autonomic neuropathy type 7, Inborn genetic diseases |
| RS774075554 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement, Inborn genetic diseases |
| RS775942010 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement, Inborn genetic diseases |
| RS778817718 | Health Risk | Conflicting classifications of pathogenicity | Familial episodic pain syndrome with predominantly lower limb involvement, Hereditary sensory and autonomic neuropathy type 7, Inborn genetic diseases |
| RS780673867 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement, Inborn genetic diseases |
| RS79184444 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement, Inborn genetic diseases |
| RS964158614 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement, Inborn genetic diseases |
| RS1064795711 | Health Risk | Likely pathogenic | — |
| RS483352921 | Health Risk | Likely pathogenic | Familial episodic pain syndrome with predominantly lower limb involvement, Congenital sensory neuropathy with selective loss of small myelinated fibers, Familial episodic pain syndrome with predominantly lower limb involvement |
| RS1085307142 | Health Risk | Pathogenic | Hereditary sensory and autonomic neuropathy type 7, Hereditary sensory and autonomic neuropathy type 7 |
| RS1230622899 | Health Risk | Pathogenic | Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement, Hereditary sensory and autonomic neuropathy type 7 |
| RS483352920 | Health Risk | Pathogenic | Hereditary sensory and autonomic neuropathy type 7, Hereditary sensory and autonomic neuropathy type 7 |
| RS138607170 | Health Risk | Pathogenic/Likely pathogenic | Familial episodic pain syndrome with predominantly lower limb involvement, Hereditary sensory and autonomic neuropathy type 7, Inborn genetic diseases |
| RS775199760 | Health Risk | Pathogenic/Likely pathogenic | Familial episodic pain syndrome with predominantly lower limb involvement, Familial episodic pain syndrome with predominantly lower limb involvement |