SCN11A
entrez
11280
canonical
uniprot
Q9UI33
canonical
ensembl
ENSG00000168356
resolver
ensp
ENSP00000307599
resolver
ensp
ENSP00000416757
resolver
genesymbol
SCN11A
resolver
genesymbol_syn
SCN12A
resolver
genesymbol_syn
SNS2
resolver
hgnc
HGNC:10583
resolver
uniprot
A6NN05
resolver
uniprot
C9JD48
resolver
uniprot
C9JR31
resolver
uniprot
Q68K15
resolver
uniprot
Q8NDX3
resolver
uniprot
Q9UHE0
resolver
uniprot
Q9UHM0
resolver
uniprot_entry
SCNBA_HUMAN
resolver
uniprot_sec
A6NN05
resolver
uniprot_sec
C9JD48
resolver
uniprot_sec
C9JR31
resolver
uniprot_sec
Q68K15
resolver
uniprot_sec
Q8NDX3
resolver
uniprot_sec
Q9UHE0
resolver
uniprot_sec
Q9UHM0
resolver
activity_regulation
ACTIVITY REGULATION: Activity is not sensitive to inhibition by tetrodotoxin. {ECO:0000305|PubMed:10580103}.
uniprot
proteins
amino_acid_sequence
MDDRCYPVIFPDERNFRPFTSDSLAAIEKRIAIQKEKKKSKDQTGEVPQPRPQLDLKASRKLPKLYGDIPRELIGKPLEDLDPFYRNHKTFMVLNRKRTIYRFSAKHALFIFGPFNSIRSLAIRVSVHSLFSMFIIGTVIINCVFMATGPAKNSNSNNTDIAECVFTGIYIFEALIKILARGFILDEFSFLRDPWNWLDSIVIGIAIVSYIPGITIKLLPLRTFRVFRALKAISVVSRLKVIVGALLRSVKKLVNVIILTFFCLSIFALVGQQLFMGSLNLKCISRDCKNISNPEAYDHCFEKKENSPEFKMCGIWMGNSACSIQYECKHTKINPDYNYTNFDNFGWSFLAMFRLMTQDSWEKLYQQTLRTTGLYSVFFFIVVIFLGSFYLINLTLAVVTMAYEEQNKNVAAEIEAKEKMFQEAQQLLKEEKEALVAMGIDRSSLTSLETSYFTPKKRKLFGNKKRKSFFLRESGKDQPPGSDSDEDCQKKPQLLEQTKRLSQNLSLDHFDEHGDPLQRQRALSAVSILTITMKEQEKSQEPCLPCGENLASKYLVWNCCPQWLCVKKVLRTVMTDPFTELAITICIIINTVFLAMEHHKMEASFEKMLNIGNLVFTSIFIAEMCLKIIALDPYHYFRRGWNIFDSIVALLSFADVMNCVLQKRSWPFLRSFRVLRVFKLAKSWPTLNTLIKIIGNSVGALGSLTVVLVIVIFIFSVVGMQLFGRSFNSQKSPKLCNPTGPTVSCLRHWHMGDFWHSFLVVFRILCGEWIENMWECMQEANASSSLCVIVFILITVIGKLVVLNLFIALLLNSFSNEERNGNLEGEARKTKVQLALDRFRRAFCFVRHTLEHFCHKWCRKQNLPQQKEVAGGCAAQSKDIIPLVMEMKRGSETQEELGILTSVPKTLGVRHDWTWLAPLAEEEDDVEFSGEDNAQRITQPEPEQQAYELHQENKKPTSQRVQSVEIDMFSEDEPHLTIQDPRKKSDVTSILSECSTIDLQDGFGWLPEMVPKKQPERCLPKGFGCCFPCCSVDKRKPPWVIWWNLRKTCYQIVKHSWFESFIIFVILLSSGALIFEDVHLENQPKIQELLNCTDIIFTHIFILEMVLKWVAFGFGKYFTSAWCCLDFIIVIVSVTTLINLMELKSFRTLRALRPLRALSQFEGMKVVVNALIGAIPAILNVLLVCLIFWLVFCILGVYFFSGKFGKCINGTDSVINYTIITNKSQCESGNFSWINQKVNFDNVGNAYLALLQVATFKGWMDIIYAAVDSTEKEQQPEFESNSLGYIYFVVFIIFGSFFTLNLFIGVIIDNFNQQQKKLGGQDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPLNKCQGLVFDIVTSQIFDIIIISLIILNMISMMAESYNQPKAMKSILDHLNWVFVVIFTLECLIKIFALRQYYFTNGWNLFDCVVVLLSIVSTMISTLENQEHIPFPPTLFRIVRLARIGRILRLVRAARGIRTLLFALMMSLPSLFNIGLLLFLIMFIYAILGMNWFSKVNPESGIDDIFNFKTFASSMLCLFQISTSAGWDSLLSPMLRSKESCNSSSENCHLPGIATSYFVSYIIISFLIVVNMYIAVILENFNTATEESEDPLGEDDFDIFYEVWEKFDPEATQFIKYSALSDFADALPEPLRVAKPNKYQFLVMDLPMVSEDRLHCMDILFAFTARVLGGSDGLDSMKAMMEEKFMEANPLKKLYEPIVTTTKRKEEERGAAIIQKAFRKYMMKVTKGDQGDQNDLENGPHSPLQTLCNGDLSSFGVAKGKVHCD
uniprot
proteins
disease_involvement
DISEASE: Neuropathy, hereditary sensory and autonomic, 7 (HSAN7) [MIM:615548]: A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN7 is characterized by congenital inability to experience pain resulting in self-mutilations, slow-healing wounds, and multiple painless fractures. mild muscle weakness, delayed motor development, slightly reduced motor and sensory nerve conduction velocities, hyperhidrosis and gastrointestinal dysfunction. {ECO:0000269|PubMed:24036948, ECO:0000269|PubMed:26645915}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Episodic pain syndrome, familial, 3 (FEPS3) [MIM:615552]: An autosomal dominant neurologic disorder characterized by paroxysmal pain mainly affecting the distal lower extremities and occasionally the upper body, especially the joints of fingers and arms. The pain is exacerbated with fatigue. {ECO:0000269|PubMed:24207120, ECO:0000269|PubMed:24776970, ECO:0000269|PubMed:25791876, ECO:0000269|PubMed:27224030}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Sodium channel mediating 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-selective channel through which sodium ions may pass in accordance with their electrochemical gradient (PubMed:10580103, PubMed:12384689, PubMed:24036948, PubMed:24776970, PubMed:25791876, PubMed:26645915). Involved in membrane depolarization during action potential in nociceptors which function as key relay stations for the electrical transmission of pain signals from the periphery to the central nervous system (PubMed:24036948, PubMed:24776970, PubMed:25791876, PubMed:26645915). Also involved in rapid BDNF-evoked neuronal depolarization (PubMed:12384689). {ECO:0000269|PubMed:10580103, ECO:0000269|PubMed:12384689, ECO:0000269|PubMed:24036948, ECO:0000269|PubMed:24776970, ECO:0000269|PubMed:25791876, ECO:0000269|PubMed:26645915}.
uniprot
proteins
mass_dalton
204922
uniprot
proteins
protein_family
Nav1.9/SCN11A subfamily
uniprot
proteins
protein_family
Sodium channel (TC 1.A.1.10) family
uniprot
proteins
pubmed
10580103
uniprot
proteins
pubmed
10623608
uniprot
proteins
pubmed
12384689
uniprot
proteins
pubmed
15302875
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
24036948
uniprot
proteins
pubmed
24207120
uniprot
proteins
pubmed
24776970
uniprot
proteins
pubmed
25791876
uniprot
proteins
pubmed
26645915
uniprot
proteins
pubmed
27224030
uniprot
proteins
sequence_length
1791
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12384689, ECO:0000269|PubMed:24036948}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 127..148; /note="Helical; Name=S1 of repeat I"; /evidence="ECO:0000250"; TRANSMEM 157..180; /note="Helical; Name=S2 of repeat I"; /evidence="ECO:0000250"; TRANSMEM 193..212; /note="Helical; Name=S3 of repeat I"; /evidence="ECO:0000250"; TRANSMEM 220..239; /note="Helical; Voltage-sensor; Name=S4 of repeat I"; /evidence="ECO:0000250"; TRANSMEM 256..269; /note="Helical; Name=S5 of repeat I"; /evidence="ECO:0000250"; TRANSMEM 377..402; /note="Helical; Name=S6 of repeat I"; /evidence="ECO:0000250"; TRANSMEM 573..596; /note="Helical; Name=S1 of repeat II"; /evidence="ECO:0000250"; TRANSMEM 608..631; /note="Helical; Name=S2 of repeat II"; /evidence="ECO:0000250"; TRANSMEM 640..659; /note="Helical; Name=S3 of repeat II"; /evidence="ECO:0000250"; TRANSMEM 668..687; /note="Helical; Voltage-sensor; Name=S4 of repeat II"; /evidence="ECO:0000250"; TRANSMEM 703..725; /note="Helical; Name=S5 of repeat II"; /evidence="ECO:0000250"; TRANSMEM 786..811; /note="Helical; Name=S6 of repeat II"; /evidence="ECO:0000250"; TRANSMEM 1052..1074; /note="Helical; Name=S1 of repeat III"; /evidence="ECO:0000250"; TRANSMEM 1089..1114; /note="Helical; Name=S2 of repeat III"; /evidence="ECO:0000250"; TRANSMEM 1121..1138; /note="Helical; Name=S3 of repeat III"; /evidence="ECO:0000250"; TRANSMEM 1140..1161; /note="Helical; Voltage-sensor; Name=S4 of repeat III"; /evidence="ECO:0000250"; TRANSMEM 1181..1202; /note="Helical; Name=S5 of repeat III"; /evidence="ECO:0000250"; TRANSMEM 1282..1308; /note="Helical; Name=S6 of repeat III"; /evidence="ECO:0000250"; TRANSMEM 1362..1385; /note="Helical; Name=S1 of repeat IV"; /evidence="ECO:0000250"; TRANSMEM 1397..1420; /note="Helical; Name=S2 of repeat IV"; /evidence="ECO:0000250"; TRANSMEM 1427..1450; /note="Helical; Name=S3 of repeat IV"; /evidence="ECO:0000250"; TRANSMEM 1462..1484; /note="Helical; Voltage-sensor; Name=S4 of repeat IV"; /evidence="ECO:0000250"; TRANSMEM 1500..1522; /note="Helical; Name=S5 of repeat IV"; /evidence="ECO:0000250"; TRANSMEM 1580..1604; /note="Helical; Name=S6 of repeat IV"; /evidence="ECO:0000250
uniprot
proteins