Property Summary

NCBI Gene PubMed Count 17
Grant Count 25
R01 Count 22
Funding $3,696,491.34
PubMed Score 238.59
PubTator Score 153.93

Knowledge Summary

Patent (11,281)

Expression

  Differential Expression (5)

Disease log2 FC p
urothelial carcinoma -1.800 0.000
interstitial cystitis -2.100 0.047
non primary Sjogren syndrome sicca -1.400 0.016
lung carcinoma 1.300 0.000
ovarian cancer -1.600 0.000

Gene RIF (9)

PMID Text
26746779 autosomal dominant Congenital insensitivity to pain reflects the second gain-of-function mutation of SCN11A.
26645915 A missense mutation (p.V1184A) in NaV1.9 leads to cold-aggravated peripheral pain.
25791876 A G699R substitution in the Nav1.9 domain II S4-S5 linker renders dorsal root ganglion neurons hyperexcitable, via depolarized resting membrane potential, reduced current threshold and increased evoked firing in small-fiber neuropathy.
24776970 missense mutations of Nav1.9 in individuals with painful peripheral neuropathy
24207120 Gain-of-function mutations in SCN11A can be causative of an autosomal-dominant episodic pain disorder.
24144460 The results demonstrate that Nav1.8 and Nav1.9 are present in human lingual nerve neuromas, with significant correlations between the level of expression of Nav1.8 and symptoms of pain.
24036948 we identified a specific de novo missense mutation in SCN11A in individuals with the congenital inability to experience pain who suffer from recurrent tissue damage and severe mutilations.
21857998 Results provide evidence that Nav1.9 plays a crucial role in the generation of heat and mechanical pain hypersensitivity, both in subacute and chronic inflammatory pain models.
12384689 we demonstrate that the tetrodotoxin-insensitive sodium channel Na(V)1.9 underlies the neurotrophin-evoked excitation

AA Sequence

MDDRCYPVIFPDERNFRPFTSDSLAAIEKRIAIQKEKKKSKDQTGEVPQPRPQLDLKASRKLPKLYGDIP      1 - 70
RELIGKPLEDLDPFYRNHKTFMVLNRKRTIYRFSAKHALFIFGPFNSIRSLAIRVSVHSLFSMFIIGTVI     71 - 140
INCVFMATGPAKNSNSNNTDIAECVFTGIYIFEALIKILARGFILDEFSFLRDPWNWLDSIVIGIAIVSY    141 - 210
IPGITIKLLPLRTFRVFRALKAISVVSRLKVIVGALLRSVKKLVNVIILTFFCLSIFALVGQQLFMGSLN    211 - 280
LKCISRDCKNISNPEAYDHCFEKKENSPEFKMCGIWMGNSACSIQYECKHTKINPDYNYTNFDNFGWSFL    281 - 350
AMFRLMTQDSWEKLYQQTLRTTGLYSVFFFIVVIFLGSFYLINLTLAVVTMAYEEQNKNVAAEIEAKEKM    351 - 420
FQEAQQLLKEEKEALVAMGIDRSSLTSLETSYFTPKKRKLFGNKKRKSFFLRESGKDQPPGSDSDEDCQK    421 - 490
KPQLLEQTKRLSQNLSLDHFDEHGDPLQRQRALSAVSILTITMKEQEKSQEPCLPCGENLASKYLVWNCC    491 - 560
PQWLCVKKVLRTVMTDPFTELAITICIIINTVFLAMEHHKMEASFEKMLNIGNLVFTSIFIAEMCLKIIA    561 - 630
LDPYHYFRRGWNIFDSIVALLSFADVMNCVLQKRSWPFLRSFRVLRVFKLAKSWPTLNTLIKIIGNSVGA    631 - 700
LGSLTVVLVIVIFIFSVVGMQLFGRSFNSQKSPKLCNPTGPTVSCLRHWHMGDFWHSFLVVFRILCGEWI    701 - 770
ENMWECMQEANASSSLCVIVFILITVIGKLVVLNLFIALLLNSFSNEERNGNLEGEARKTKVQLALDRFR    771 - 840
RAFCFVRHTLEHFCHKWCRKQNLPQQKEVAGGCAAQSKDIIPLVMEMKRGSETQEELGILTSVPKTLGVR    841 - 910
HDWTWLAPLAEEEDDVEFSGEDNAQRITQPEPEQQAYELHQENKKPTSQRVQSVEIDMFSEDEPHLTIQD    911 - 980
PRKKSDVTSILSECSTIDLQDGFGWLPEMVPKKQPERCLPKGFGCCFPCCSVDKRKPPWVIWWNLRKTCY    981 - 1050
QIVKHSWFESFIIFVILLSSGALIFEDVHLENQPKIQELLNCTDIIFTHIFILEMVLKWVAFGFGKYFTS   1051 - 1120
AWCCLDFIIVIVSVTTLINLMELKSFRTLRALRPLRALSQFEGMKVVVNALIGAIPAILNVLLVCLIFWL   1121 - 1190
VFCILGVYFFSGKFGKCINGTDSVINYTIITNKSQCESGNFSWINQKVNFDNVGNAYLALLQVATFKGWM   1191 - 1260
DIIYAAVDSTEKEQQPEFESNSLGYIYFVVFIIFGSFFTLNLFIGVIIDNFNQQQKKLGGQDIFMTEEQK   1261 - 1330
KYYNAMKKLGSKKPQKPIPRPLNKCQGLVFDIVTSQIFDIIIISLIILNMISMMAESYNQPKAMKSILDH   1331 - 1400
LNWVFVVIFTLECLIKIFALRQYYFTNGWNLFDCVVVLLSIVSTMISTLENQEHIPFPPTLFRIVRLARI   1401 - 1470
GRILRLVRAARGIRTLLFALMMSLPSLFNIGLLLFLIMFIYAILGMNWFSKVNPESGIDDIFNFKTFASS   1471 - 1540
MLCLFQISTSAGWDSLLSPMLRSKESCNSSSENCHLPGIATSYFVSYIIISFLIVVNMYIAVILENFNTA   1541 - 1610
TEESEDPLGEDDFDIFYEVWEKFDPEATQFIKYSALSDFADALPEPLRVAKPNKYQFLVMDLPMVSEDRL   1611 - 1680
HCMDILFAFTARVLGGSDGLDSMKAMMEEKFMEANPLKKLYEPIVTTTKRKEEERGAAIIQKAFRKYMMK   1681 - 1750
VTKGDQGDQNDLENGPHSPLQTLCNGDLSSFGVAKGKVHCD                                1751 - 1791
//

Text Mined References (20)

PMID Year Title
27224030 2016 Infantile Pain Episodes Associated with Novel Nav1.9 Mutations in Familial Episodic Pain Syndrome in Japanese Families.
26746779 2016 Congenital insensitivity to pain: Fracturing without apparent skeletal pathobiology caused by an autosomal dominant, second mutation in SCN11A encoding voltage-gated sodium channel 1.9.
26645915 2015 Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant.
25791876 2015 The Domain II S4-S5 Linker in Nav1.9: A Missense Mutation Enhances Activation, Impairs Fast Inactivation, and Produces Human Painful Neuropathy.
24776970 2014 Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy.
24564958 2014 Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence.
24207120 2013 Gain-of-function mutations in SCN11A cause familial episodic pain.
24144460 2013 Correlation of Nav1.8 and Nav1.9 sodium channel expression with neuropathic pain in human subjects with lingual nerve neuromas.
24036948 2013 A de novo gain-of-function mutation in SCN11A causes loss of pain perception.
21857998 2011 Nav1.9 channel contributes to mechanical and heat pain hypersensitivity induced by subacute and chronic inflammation.
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