Details for: SCN11A
Associated with
Other Information
Genular Protein ID: 696292269
Symbol: SCNBA_HUMAN
Name: Peripheral nerve sodium channel 5
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 10580103
Title: Two tetrodotoxin-resistant sodium channels in human dorsal root ganglion neurons.
PubMed ID: 10580103
PubMed ID: 10623608
Title: Identification of a novel human voltage-gated sodium channel alpha subunit gene, SCN12A.
PubMed ID: 10623608
PubMed ID: 12384689
Title: Neurotrophin-evoked depolarization requires the sodium channel Nav1.9.
PubMed ID: 12384689
DOI: 10.1038/nature01085
PubMed ID: 16641997
Title: The DNA sequence, annotation and analysis of human chromosome 3.
PubMed ID: 16641997
DOI: 10.1038/nature04728
PubMed ID: 15302875
Title: Expression of alternatively spliced sodium channel alpha-subunit genes: unique splicing patterns are observed in dorsal root ganglia.
PubMed ID: 15302875
PubMed ID: 24207120
Title: Gain-of-function mutations in SCN11A cause familial episodic pain.
PubMed ID: 24207120
PubMed ID: 24036948
Title: A de novo gain-of-function mutation in SCN11A causes loss of pain perception.
PubMed ID: 24036948
DOI: 10.1038/ng.2767
PubMed ID: 24776970
Title: Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy.
PubMed ID: 24776970
DOI: 10.1093/brain/awu079
PubMed ID: 26645915
Title: Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant.
PubMed ID: 26645915
DOI: 10.1038/ncomms10049
PubMed ID: 25791876
Title: The domain II S4-S5 linker in Nav1.9: a missense mutation enhances activation, impairs fast inactivation, and produces human painful neuropathy.
PubMed ID: 25791876
PubMed ID: 27224030
Title: Infantile pain episodes associated with novel Nav1.9 mutations in familial episodic pain syndrome in japanese families.
PubMed ID: 27224030
Sequence Information:
- Length: 1791
- Mass: 204922
- Checksum: DE38680BFB639ED1
- Sequence:
MDDRCYPVIF PDERNFRPFT SDSLAAIEKR IAIQKEKKKS KDQTGEVPQP RPQLDLKASR KLPKLYGDIP RELIGKPLED LDPFYRNHKT FMVLNRKRTI YRFSAKHALF IFGPFNSIRS LAIRVSVHSL FSMFIIGTVI INCVFMATGP AKNSNSNNTD IAECVFTGIY IFEALIKILA RGFILDEFSF LRDPWNWLDS IVIGIAIVSY IPGITIKLLP LRTFRVFRAL KAISVVSRLK VIVGALLRSV KKLVNVIILT FFCLSIFALV GQQLFMGSLN LKCISRDCKN ISNPEAYDHC FEKKENSPEF KMCGIWMGNS ACSIQYECKH TKINPDYNYT NFDNFGWSFL AMFRLMTQDS WEKLYQQTLR TTGLYSVFFF IVVIFLGSFY LINLTLAVVT MAYEEQNKNV AAEIEAKEKM FQEAQQLLKE EKEALVAMGI DRSSLTSLET SYFTPKKRKL FGNKKRKSFF LRESGKDQPP GSDSDEDCQK KPQLLEQTKR LSQNLSLDHF DEHGDPLQRQ RALSAVSILT ITMKEQEKSQ EPCLPCGENL ASKYLVWNCC PQWLCVKKVL RTVMTDPFTE LAITICIIIN TVFLAMEHHK MEASFEKMLN IGNLVFTSIF IAEMCLKIIA LDPYHYFRRG WNIFDSIVAL LSFADVMNCV LQKRSWPFLR SFRVLRVFKL AKSWPTLNTL IKIIGNSVGA LGSLTVVLVI VIFIFSVVGM QLFGRSFNSQ KSPKLCNPTG PTVSCLRHWH MGDFWHSFLV VFRILCGEWI ENMWECMQEA NASSSLCVIV FILITVIGKL VVLNLFIALL LNSFSNEERN GNLEGEARKT KVQLALDRFR RAFCFVRHTL EHFCHKWCRK QNLPQQKEVA GGCAAQSKDI IPLVMEMKRG SETQEELGIL TSVPKTLGVR HDWTWLAPLA EEEDDVEFSG EDNAQRITQP EPEQQAYELH QENKKPTSQR VQSVEIDMFS EDEPHLTIQD PRKKSDVTSI LSECSTIDLQ DGFGWLPEMV PKKQPERCLP KGFGCCFPCC SVDKRKPPWV IWWNLRKTCY QIVKHSWFES FIIFVILLSS GALIFEDVHL ENQPKIQELL NCTDIIFTHI FILEMVLKWV AFGFGKYFTS AWCCLDFIIV IVSVTTLINL MELKSFRTLR ALRPLRALSQ FEGMKVVVNA LIGAIPAILN VLLVCLIFWL VFCILGVYFF SGKFGKCING TDSVINYTII TNKSQCESGN FSWINQKVNF DNVGNAYLAL LQVATFKGWM DIIYAAVDST EKEQQPEFES NSLGYIYFVV FIIFGSFFTL NLFIGVIIDN FNQQQKKLGG QDIFMTEEQK KYYNAMKKLG SKKPQKPIPR PLNKCQGLVF DIVTSQIFDI IIISLIILNM ISMMAESYNQ PKAMKSILDH LNWVFVVIFT LECLIKIFAL RQYYFTNGWN LFDCVVVLLS IVSTMISTLE NQEHIPFPPT LFRIVRLARI GRILRLVRAA RGIRTLLFAL MMSLPSLFNI GLLLFLIMFI YAILGMNWFS KVNPESGIDD IFNFKTFASS MLCLFQISTS AGWDSLLSPM LRSKESCNSS SENCHLPGIA TSYFVSYIII SFLIVVNMYI AVILENFNTA TEESEDPLGE DDFDIFYEVW EKFDPEATQF IKYSALSDFA DALPEPLRVA KPNKYQFLVM DLPMVSEDRL HCMDILFAFT ARVLGGSDGL DSMKAMMEEK FMEANPLKKL YEPIVTTTKR KEEERGAAII QKAFRKYMMK VTKGDQGDQN DLENGPHSPL QTLCNGDLSS FGVAKGKVHC D
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.