SCN10A (sodium voltage-gated channel alpha subunit 10)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6336
Gene name Gene Name - the full gene name approved by the HGNC.
Sodium voltage-gated channel alpha subunit 10
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SCN10A
Synonyms (NCBI Gene) Gene synonyms aliases
FEPS2, Nav1.8, PN3, SNS
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p22.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(12)
SNP ID Visualize variation Clinical significance Consequence
rs138404783 A>G Pathogenic, uncertain-significance, likely-benign Missense variant, intron variant, coding sequence variant
rs141810266 C>T Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs142173735 C>A,T Pathogenic Missense variant, coding sequence variant
rs142235256 G>A Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs145032037 C>A,T Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, missense variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(45)
GO ID Ontology Definition Evidence Reference
GO:0001518 Component Voltage-gated sodium channel complex IBA
GO:0001518 Component Voltage-gated sodium channel complex IDA 9839820
GO:0001518 Component Voltage-gated sodium channel complex IEA
GO:0002027 Process Regulation of heart rate IEA
GO:0002027 Process Regulation of heart rate IMP 20062061, 21041692
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604427 10582 ENSG00000185313
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9Y5Y9
Protein name Sodium channel protein type 10 subunit alpha (Peripheral nerve sodium channel 3) (PN3) (hPN3) (Sodium channel protein type X subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.8)
Protein function Tetrodotoxin-resistant channel that mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-sele
PDB 7WE4 , 7WEL , 7WFR , 7WFW , 9DBK , 9DBL , 9DBM , 9DBN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00520 Ion_trans 129 → 408 Ion transport protein Family
PF00520 Ion_trans 664 → 899 Ion transport protein Family
PF06512 Na_trans_assoc 904 → 1147 Sodium ion transport-associated Family
PF00520 Ion_trans 1151 → 1429 Ion transport protein Family
PF00520 Ion_trans 1475 → 1733 Ion transport protein Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the dorsal root ganglia and sciatic nerve. {ECO:0000269|PubMed:9839820}.
Sequence 
MEFPIGSLETNNFRRFTPESLVEIEKQIAAKQGTKKAREKHREQKDQEEKPRPQLDLKAC
NQLPKFYGELPAELIGEPLEDLDPFYSTHRTFMVLNKGRTISRFSATRALWLFSPFNLIR
RTAIKVSVHSWFSLFITVTILVNCVCMTRTDLPEKIEYVFTVIYTFEALIKILARGFCLN
EFTYLRDPWNWLDFSVITLAYVGTAIDLRGISGLRTFRVLRALKTVSVIPGLKVIVGALI
HSVKKLADVTILTIFCLSVFALVGLQLFKGNLKNKCVKNDMAVNETTNYSSHRKPDIYIN
KRGTSDPLLCGNGSDSGHCPDGYICLKTSDNPDFNYTSFDSFAWAFLSLFRLMTQDSWER
LYQQTLRTSGKIYMIFFVLVIFLGSFYLVNLILAVVTMAYEEQNQATTDEIEAKEKKFQE
ALEMLRKEQEVLAALGIDTTSLHSHNGSPLTSKNASERRHRIKPRVSEGSTEDNKSPRSD
PYNQRRMSFLGLASGKRRASHGSVFHFRSPGRDISLPEGVTDDGVFPGDHESHRGSLLLG
GGAGQQGPLPRSPLPQPSNPDSRHGEDEHQPPPTSELAPGAVDVSAFDAGQKKTFLSAEY
LDEPFRAQRAMSVVSIITSVLEELEESEQKCPPCLTSLSQKYLIWDCCPMWVKLKTILFG
LVTDPFAELTITLCIVVNTIFMAMEHHGMSPTFEAMLQIGNIVFTIFFTAEMVFKIIAFD
PYYYFQKKWNIFDCIIVTVSLLELGVAKKGSLSVLRSFRLLRVFKLAKSWPTLNTLIKII
GNSVGALGNLTIILAIIVFVFALVGKQLLGENYRNNRKNISAPHEDWPRWHMHDFFHSFL
IVFRILCGEWIENMWACMEVGQKSICLILFLTVMVLGNLVVLNLFIALLLNSFSADNLTA
PEDDGEVNNLQVALARIQVFGHRTKQALCSFFSRSCPFPQPKAEPELVVKLPLSSSKAEN
HIAANTARGSSGGLQAPRGPRDEHSDFIANPTVWVSVPIAEGESDLDDLEDDGGEDAQSF
QQEVIPKGQQEQLQQVERCGDHLTPRSPGTGTSSEDLAPSLGETWKDESVPQVPAEGVDD
TSSSEGSTVDCLDPEEILRKIPELADDLEEPDDCFTEGCIRHCPCCKLDTTKSPWDVGWQ
VRKTCYRIVEHSWFESFIIFMILLSSGSLAFEDYYLDQKPTVKALLEYTDRVFTFIFVFE
MLLKWVAYGFKKYFTNAWCWLDFLIVNISLISLTAKILEYSEVAPIKALRTLRALRPLRA
LSRFEGMRVVVDALVGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFWRCINYTDGEFSL
VPLSIVNNKSDCKIQNSTGSFFWVNVKVNFDNVAMGYLALLQVATFKGWMDIMYAAVDSR
EVNMQPKWEDNVYMYLYFVIFIIFGGFFTLNLFVGVIIDNFNQQKKKLGGQDIFMTEEQK
KYYNAMKKLGSKKPQKPIPRPLNKFQGFVFDIVTRQAFDITIMVLICLNMITMMVETDDQ
SEEKTKILGKINQFFVAVFTGECVMKMFALRQYYFTNGWNVFDFIVVVLSIASLIFSAIL
KSLQSYFSPTLFRVIRLARIGRILRLIRAAKGIRTLLFALMMSLPALFNIGLLLFLVMFI
YSIFGMSSFPHVRWEAGIDDMFNFQTFANSMLCLFQITTSAGWDGLLSPILNTGPPYCDP
NLPNSNGTRGDCGSPAVGIIFFTTYIIISFLIMVNMYIAVILENFNVATEESTEPLSEDD
FDMFYETWEKFDPEATQFITFSALSDFADTLSGPLRIPKPNRNILIQMDLPLVPGDKIHC
LDILFAFTKNVLGESGELDSLKANMEEKFMATNLSKSSYEPIATTLRWKQEDISATVIQK
AYRSYVLHRSMALSNTPCVPRAEEEAASLPDEGFVAFTANENCVLPDKSETASATSFPPS
YESVTRGLSDRVNMRTSSSIQNEDEATSMELIAPGP
Sequence length 1956
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Phase 0 - rapid depolarisation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Brugada Syndrome brugada syndrome rs1559414131 N/A
Show/Hide Unknown Diseases (5)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Episodic Pain Syndrome episodic pain syndrome, familial, 2 N/A N/A ClinVar
Sick Sinus Syndrome Sick sinus syndrome N/A N/A GWAS
Sodium Channelopathy-Related Small Fiber Neuropathy sodium channelopathy-related small fiber neuropathy N/A N/A GenCC
Show/Hide Text Mining Associations (52)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abdominal Pain Associate 39729348
Arrhythmias Cardiac Associate 21646736, 23463857, 32330377, 33948580, 37122207, 37373335
Arrhythmogenic Right Ventricular Dysplasia Associate 26733327
Asthma Associate 36395102
Atrial Fibrillation Associate 20062060, 23463857, 24072447, 24667784, 25053638, 25691686, 26733327, 27725708, 28281580, 28407228, 28464817, 31539150, 33350184
Atrial Fibrillation Inhibit 24667784
Autism Spectrum Disorder Associate 34356069, 36140801
Brugada Syndrome Associate 24667784, 24998131, 25691538, 26733327, 32490690, 33164571, 33948580, 34312669, 37373335
Bundle Branch Block Associate 26104176
Cardiomyopathy Hypertrophic Associate 26104176