SCN11A (sodium voltage-gated channel alpha subunit 11)

2014-11-01  

Identity

HGNC
LOCATION
3p22.2
LOCUSID
ALIAS
FEPS3,HSAN7,NAV1.9,NaN,PN5,SCN12A,SNS-2
FUSION GENES

Other Information

Locus ID:

NCBI: 11280
MIM: 604385
HGNC: 10583
Ensembl: ENSG00000168356

Variants:

dbSNP: 11280
ClinVar: 11280
TCGA: ENSG00000168356
COSMIC: SCN11A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168356ENST00000302328Q9UI33
ENSG00000168356ENST00000444237Q9UI33
ENSG00000168356ENST00000456224Q9UI33
ENSG00000168356ENST00000668754Q9UI33

Expression (GTEx)

0
1
2
3
4

Pathways

PathwaySourceExternal ID
Muscle contractionREACTOMER-HSA-397014
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
L1CAM interactionsREACTOMER-HSA-373760
Interaction between L1 and AnkyrinsREACTOMER-HSA-445095
Cardiac conductionREACTOMER-HSA-5576891
Phase 0 - rapid depolarisationREACTOMER-HSA-5576892

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
387346692024Elevated SCN11A concentrations associated with lower serum lipid levels in patients with major depressive disorder.0
387346692024Elevated SCN11A concentrations associated with lower serum lipid levels in patients with major depressive disorder.0
370612022023Understanding the physiological role of Na(V)1.9: Challenges and opportunities for pain modulation.1
371868982023The influence of Nav1.9 channels on intestinal hyperpathia and dysmotility.1
370612022023Understanding the physiological role of Na(V)1.9: Challenges and opportunities for pain modulation.1
371868982023The influence of Nav1.9 channels on intestinal hyperpathia and dysmotility.1
349309442021Contributions of Na(V)1.8 and Na(V)1.9 to excitability in human induced pluripotent stem-cell derived somatosensory neurons.4
349309442021Contributions of Na(V)1.8 and Na(V)1.9 to excitability in human induced pluripotent stem-cell derived somatosensory neurons.4
318225642020A 49-residue sequence motif in the C terminus of Nav1.9 regulates trafficking of the channel to the plasma membrane.6
321323942020Alcohol-aggravated episodic pain in humans with SCN11A mutation and ALDH2 polymorphism.5
326017682020Painful and painless mutations of SCN9A and SCN11A voltage-gated sodium channels.15
318225642020A 49-residue sequence motif in the C terminus of Nav1.9 regulates trafficking of the channel to the plasma membrane.6
321323942020Alcohol-aggravated episodic pain in humans with SCN11A mutation and ALDH2 polymorphism.5
326017682020Painful and painless mutations of SCN9A and SCN11A voltage-gated sodium channels.15
305541362019Yield of peripheral sodium channels gene screening in pure small fibre neuropathy.28

Citation

Dessen P

SCN11A (sodium voltage-gated channel alpha subunit 11)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73044/scn11a-(sodium-voltage-gated-channel-alpha-subunit-11)