• Gene id: 6336

Gene Summary

• Gene Symbol: SCN10A   Gene   UCSC   Ensembl
• Aliases: FEPS2, Nav1.8, PN3, SNS, hPN3
• Gene name: sodium voltage-gated channel alpha subunit 10
• Alternate names: sodium channel protein type 10 subunit alpha, peripheral nerve sodium channel 3, sodium channel protein type X subunit alpha, sodium channel, voltage-gated, type X, alpha polypeptide, sodium channel, voltage-gated, type X, alpha subunit, voltage-gated sodium c,
• Gene location: 3p22.2 (38794009: 38697109)     Exons: 27     NC_000003.12
• Gene summary(Entrez): 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
• OMIM: 601520

Protein Summary

• Protein general information: Q9Y5Y9  
  • 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)
  • Length: 1956  
  • Mass: 220626
  • Tissue specificity: Expressed in the dorsal root ganglia and sciatic nerve. {ECO
• Sequence:

  MEFPIGSLETNNFRRFTPESLVEIEKQIAAKQGTKKAREKHREQKDQEEKPRPQLDLKACNQLPKFYGELPAELI
  GEPLEDLDPFYSTHRTFMVLNKGRTISRFSATRALWLFSPFNLIRRTAIKVSVHSWFSLFITVTILVNCVCMTRT
  DLPEKIEYVFTVIYTFEALIKILARGFCLNEFTYLRDPWNWLDFSVITLAYVGTAIDLRGISGLRTFRVLRALKT
  VSVIPGLKVIVGALIHSVKKLADVTILTIFCLSVFALVGLQLFKGNLKNKCVKNDMAVNETTNYSSHRKPDIYIN
  KRGTSDPLLCGNGSDSGHCPDGYICLKTSDNPDFNYTSFDSFAWAFLSLFRLMTQDSWERLYQQTLRTSGKIYMI
  FFVLVIFLGSFYLVNLILAVVTMAYEEQNQATTDEIEAKEKKFQEALEMLRKEQEVLAALGIDTTSLHSHNGSPL
  TSKNASERRHRIKPRVSEGSTEDNKSPRSDPYNQRRMSFLGLASGKRRASHGSVFHFRSPGRDISLPEGVTDDGV
  FPGDHESHRGSLLLGGGAGQQGPLPRSPLPQPSNPDSRHGEDEHQPPPTSELAPGAVDVSAFDAGQKKTFLSAEY
  LDEPFRAQRAMSVVSIITSVLEELEESEQKCPPCLTSLSQKYLIWDCCPMWVKLKTILFGLVTDPFAELTITLCI
  VVNTIFMAMEHHGMSPTFEAMLQIGNIVFTIFFTAEMVFKIIAFDPYYYFQKKWNIFDCIIVTVSLLELGVAKKG
  SLSVLRSFRLLRVFKLAKSWPTLNTLIKIIGNSVGALGNLTIILAIIVFVFALVGKQLLGENYRNNRKNISAPHE
  DWPRWHMHDFFHSFLIVFRILCGEWIENMWACMEVGQKSICLILFLTVMVLGNLVVLNLFIALLLNSFSADNLTA
  PEDDGEVNNLQVALARIQVFGHRTKQALCSFFSRSCPFPQPKAEPELVVKLPLSSSKAENHIAANTARGSSGGLQ
  APRGPRDEHSDFIANPTVWVSVPIAEGESDLDDLEDDGGEDAQSFQQEVIPKGQQEQLQQVERCGDHLTPRSPGT
  GTSSEDLAPSLGETWKDESVPQVPAEGVDDTSSSEGSTVDCLDPEEILRKIPELADDLEEPDDCFTEGCIRHCPC
  CKLDTTKSPWDVGWQVRKTCYRIVEHSWFESFIIFMILLSSGSLAFEDYYLDQKPTVKALLEYTDRVFTFIFVFE
  MLLKWVAYGFKKYFTNAWCWLDFLIVNISLISLTAKILEYSEVAPIKALRTLRALRPLRALSRFEGMRVVVDALV
  GAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFWRCINYTDGEFSLVPLSIVNNKSDCKIQNSTGSFFWVNVKVNF
  DNVAMGYLALLQVATFKGWMDIMYAAVDSREVNMQPKWEDNVYMYLYFVIFIIFGGFFTLNLFVGVIIDNFNQQK
  KKLGGQDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPLNKFQGFVFDIVTRQAFDITIMVLICLNMITMMVETDDQ
  SEEKTKILGKINQFFVAVFTGECVMKMFALRQYYFTNGWNVFDFIVVVLSIASLIFSAILKSLQSYFSPTLFRVI
  RLARIGRILRLIRAAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYSIFGMSSFPHVRWEAGIDDMFNFQTFANS
  MLCLFQITTSAGWDGLLSPILNTGPPYCDPNLPNSNGTRGDCGSPAVGIIFFTTYIIISFLIMVNMYIAVILENF
  NVATEESTEPLSEDDFDMFYETWEKFDPEATQFITFSALSDFADTLSGPLRIPKPNRNILIQMDLPLVPGDKIHC
  LDILFAFTKNVLGESGELDSLKANMEEKFMATNLSKSSYEPIATTLRWKQEDISATVIQKAYRSYVLHRSMALSN
  TPCVPRAEEEAASLPDEGFVAFTANENCVLPDKSETASATSFPPSYESVTRGLSDRVNMRTSSSIQNEDEATSME
  LIAPGP

• Structural information:
  • Protein Domains: (1851..188-)
    (/note="IQ"-)
  • Interpro: IPR005821  IPR028809  IPR001696  IPR010526  IPR027359  
  • STRING: ENSP00000390600
• Other Databases: GeneCards:  SCN10A  Malacards:  SCN10A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030424	axon	ISS	cellular component
GO:0001518	voltage-gated sodium channel complex	IBA	cellular component
GO:0005261	cation channel activity	IBA	molecular function
GO:0019228	neuronal action potential	IBA	biological process
GO:0035725	sodium ion transmembrane transport	IBA	biological process
GO:0005248	voltage-gated sodium channel activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0086010	membrane depolarization during action potential	IBA	biological process
GO:0001518	voltage-gated sodium channel complex	IEA	cellular component
GO:0005261	cation channel activity	IEA	molecular function
GO:0006814	sodium ion transport	IEA	biological process
GO:0005216	ion channel activity	IEA	molecular function
GO:0005248	voltage-gated sodium channel activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0019233	sensory perception of pain	IEA	biological process
GO:0055085	transmembrane transport	IEA	biological process
GO:0006814	sodium ion transport	IEA	biological process
GO:0005272	sodium channel activity	IEA	molecular function
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007600	sensory perception	TAS	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0071439	clathrin complex	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0006814	sodium ion transport	IEA	biological process
GO:0099056	integral component of presynaptic membrane	IEA	cellular component
GO:0042475	odontogenesis of dentin-containing tooth	IEA	biological process
GO:0019233	sensory perception of pain	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005248	voltage-gated sodium channel activity	IEA	molecular function
GO:0005248	voltage-gated sodium channel activity	IDA	molecular function
GO:0044325	ion channel binding	IPI	molecular function
GO:0001518	voltage-gated sodium channel complex	IDA	cellular component
GO:0035725	sodium ion transmembrane transport	IDA	biological process
GO:0055117	regulation of cardiac muscle contraction	IMP	biological process
GO:0060371	regulation of atrial cardiac muscle cell membrane depolarization	IMP	biological process
GO:0060371	regulation of atrial cardiac muscle cell membrane depolarization	IMP	biological process
GO:0086043	bundle of His cell action potential	IMP	biological process
GO:0034765	regulation of ion transmembrane transport	IDA	biological process
GO:0002027	regulation of heart rate	IMP	biological process
GO:0002027	regulation of heart rate	IMP	biological process
GO:0086016	AV node cell action potential	IMP	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Familial episodic pain syndrome	KEGG:H01391
Familial episodic pain syndrome	KEGG:H01391
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq