ID A0A1B0GWA6_HUMAN Unreviewed; 1873 AA. AC A0A1B0GWA6; DT 05-OCT-2016, integrated into UniProtKB/TrEMBL. DT 05-OCT-2016, sequence version 1. DT 16-JAN-2019, entry version 15. DE RecName: Full=Sodium channel protein {ECO:0000256|RuleBase:RU361132}; GN Name=SCN2A {ECO:0000313|Ensembl:ENSP00000490849}; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606 {ECO:0000313|Ensembl:ENSP00000490849, ECO:0000313|Proteomes:UP000005640}; RN [1] {ECO:0000313|Ensembl:ENSP00000490849, ECO:0000313|Proteomes:UP000005640} RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=15815621; DOI=10.1038/nature03466; RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., RA Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., RA Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., RA Kremitzki C., Oddy L., Du H., Sun H., Bradshaw-Cordum H., Ali J., RA Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., RA Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., RA Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., RA Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., RA Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., RA Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., RA Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., RA Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., RA Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., RA Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., RA Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., RA Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., RA Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., RA Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., RA McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., RA Waterston R.H., Wilson R.K.; RT "Generation and annotation of the DNA sequences of human chromosomes 2 RT and 4."; RL Nature 434:724-731(2005). RN [2] {ECO:0000313|Ensembl:ENSP00000490849} RP IDENTIFICATION. RG Ensembl; RL Submitted (JUL-2016) to UniProtKB. CC -!- FUNCTION: Mediates the voltage-dependent sodium ion permeability CC of excitable membranes. {ECO:0000256|RuleBase:RU361132}. CC -!- SUBCELLULAR LOCATION: Cell membrane CC {ECO:0000256|RuleBase:RU361132}; Multi-pass membrane protein CC {ECO:0000256|RuleBase:RU361132}. CC -!- SIMILARITY: Belongs to the sodium channel (TC 1.A.1.10) family. CC {ECO:0000256|RuleBase:RU361132}. CC -!- CAUTION: Lacks conserved residue(s) required for the propagation CC of feature annotation. {ECO:0000256|RuleBase:RU361132}. CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC ----------------------------------------------------------------------- DR EMBL; AC011303; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC013438; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC013463; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR jPOST; A0A1B0GWA6; -. DR PeptideAtlas; A0A1B0GWA6; -. DR Ensembl; ENST00000636985; ENSP00000490849; ENSG00000136531. DR HGNC; HGNC:10588; SCN2A. DR OpenTargets; ENSG00000136531; -. DR GeneTree; ENSGT00940000154224; -. DR ChiTaRS; SCN2A; human. DR Proteomes; UP000005640; Chromosome 2. DR ExpressionAtlas; A0A1B0GWA6; baseline and differential. DR GO; GO:0001518; C:voltage-gated sodium channel complex; IEA:UniProtKB-UniRule. DR GO; GO:0005244; F:voltage-gated ion channel activity; IEA:UniProtKB-KW. DR GO; GO:0005248; F:voltage-gated sodium channel activity; IEA:InterPro. DR GO; GO:0034765; P:regulation of ion transmembrane transport; IEA:UniProtKB-KW. DR Gene3D; 1.20.120.350; -; 4. DR InterPro; IPR005821; Ion_trans_dom. DR InterPro; IPR000048; IQ_motif_EF-hand-BS. DR InterPro; IPR001696; Na_channel_asu. DR InterPro; IPR010526; Na_trans_assoc. DR InterPro; IPR024583; Na_trans_cytopl. DR InterPro; IPR027359; Volt_channel_dom_sf. DR Pfam; PF00520; Ion_trans; 4. DR Pfam; PF06512; Na_trans_assoc; 1. DR Pfam; PF11933; Na_trans_cytopl; 1. DR PRINTS; PR00170; NACHANNEL. DR SMART; SM00015; IQ; 1. DR PROSITE; PS50096; IQ; 1. PE 1: Evidence at protein level; KW Coiled coil {ECO:0000256|SAM:Coils}; KW Complete proteome {ECO:0000313|Proteomes:UP000005640}; KW Ion channel {ECO:0000256|RuleBase:RU361132}; KW Ion transport {ECO:0000256|RuleBase:RU361132}; KW Membrane {ECO:0000256|RuleBase:RU361132, KW ECO:0000256|SAAS:SAAS00084701}; KW Proteomics identification {ECO:0000213|PeptideAtlas:A0A1B0GWA6}; KW Reference proteome {ECO:0000313|Proteomes:UP000005640}; KW Signal {ECO:0000256|SAM:SignalP}; KW Sodium {ECO:0000256|RuleBase:RU361132}; KW Sodium channel {ECO:0000256|RuleBase:RU361132}; KW Sodium transport {ECO:0000256|RuleBase:RU361132}; KW Transmembrane {ECO:0000256|RuleBase:RU361132, KW ECO:0000256|SAAS:SAAS00084701}; KW Transmembrane helix {ECO:0000256|RuleBase:RU361132, KW ECO:0000256|SAAS:SAAS00084701}; KW Transport {ECO:0000256|RuleBase:RU361132}; KW Voltage-gated channel {ECO:0000256|RuleBase:RU361132}. FT SIGNAL 1 17 {ECO:0000256|SAM:SignalP}. FT CHAIN 18 1873 Sodium channel protein. FT {ECO:0000256|SAM:SignalP}. FT /FTId=PRO_5008408685. FT TRANSMEM 119 139 Helical. {ECO:0000256|RuleBase:RU361132}. FT TRANSMEM 269 296 Helical. {ECO:0000256|RuleBase:RU361132}. FT TRANSMEM 619 643 Helical. {ECO:0000256|RuleBase:RU361132}. FT TRANSMEM 655 676 Helical. {ECO:0000256|RuleBase:RU361132}. FT TRANSMEM 738 766 Helical. {ECO:0000256|RuleBase:RU361132}. FT TRANSMEM 828 851 Helical. {ECO:0000256|RuleBase:RU361132}. FT TRANSMEM 1077 1095 Helical. {ECO:0000256|RuleBase:RU361132}. FT TRANSMEM 1116 1138 Helical. {ECO:0000256|RuleBase:RU361132}. FT TRANSMEM 1144 1164 Helical. {ECO:0000256|RuleBase:RU361132}. FT TRANSMEM 1193 1219 Helical. {ECO:0000256|RuleBase:RU361132}. FT TRANSMEM 1317 1341 Helical. {ECO:0000256|RuleBase:RU361132}. FT TRANSMEM 1400 1418 Helical. {ECO:0000256|RuleBase:RU361132}. FT TRANSMEM 1430 1448 Helical. {ECO:0000256|RuleBase:RU361132}. FT TRANSMEM 1455 1480 Helical. {ECO:0000256|RuleBase:RU361132}. FT TRANSMEM 1517 1545 Helical. {ECO:0000256|RuleBase:RU361132}. FT TRANSMEM 1621 1644 Helical. {ECO:0000256|RuleBase:RU361132}. FT DOMAIN 1 303 Ion_trans. {ECO:0000259|Pfam:PF00520}. FT DOMAIN 376 577 Na_trans_cytopl. FT {ECO:0000259|Pfam:PF11933}. FT DOMAIN 628 856 Ion_trans. {ECO:0000259|Pfam:PF00520}. FT DOMAIN 865 1071 Na_trans_assoc. FT {ECO:0000259|Pfam:PF06512}. FT DOMAIN 1075 1349 Ion_trans. {ECO:0000259|Pfam:PF00520}. FT DOMAIN 1399 1654 Ion_trans. {ECO:0000259|Pfam:PF00520}. FT COILED 293 338 {ECO:0000256|SAM:Coils}. FT COILED 366 386 {ECO:0000256|SAM:Coils}. SQ SEQUENCE 1873 AA; 213092 MW; AD64317B97765F6C CRC64; MLIMCTILTN CVFMTMSNPP DWTKNVEYTF TGIYTFESLI KILARGFCLE DFTFLRDPWN WLDFTVITFA YVTEFVDLGN VSALRTFRVL RALKTISVIP GLKTIVGALI QSVKKLSDVM ILTVFCLSVF ALIGLQLFMG NLRNKCLQWP PDNSSFEINI TSFFNNSLDG NGTTFNRTVS IFNWDEYIED KSHFYFLEGQ NDALLCGNSS DAGQCPEGYI CVKAGRNPNY GYTSFDTFSW AFLSLFRLMT QDFWENLYQL TLRAAGKTYM IFFVLVIFLG SFYLINLILA VVAMAYEEQN QATLEEAEQK EAEFQQMLEQ LKKQQEEAQA AAAAASAESR DFSGAGGIGV FSESSSVASK LSSKSEKELK NRRKKKKQKE QSGEEEKNDR VRKSESEDSI RRKGFRFSLE GSRLTYEKRF SSPHQSLLSI RGSLFSPRRN SRASLFSFRG RAKDIGSEND FADDEHSTFE DNDSRRDSLF VPHRHGERRH SNVSQASRAS RVLPILPMNG KMHSAVDCNG VVSLVGGPST LTSAGQLLPE GTTTETEIRK RRSSSYHVSM DLLEDPTSRQ RAMSIASILT NTMEELEESR QKCPPCWYKF ANMCLIWDCC KPWLKVKHLV NLVVMDPFVD LAITICIVLN TLFMAMEHYP MTEQFSSVLS VGNLVFTGIF TAEMFLKIIA MDPYYYFQEG WNIFDGFIVS LSLMELGLAN VEGLSVLRSF RLLRVFKLAK SWPTLNMLIK IIGNSVGALG NLTLVLAIIV FIFAVVGMQL FGKSYKECVC KISNDCELPR WHMHDFFHSF LIVFRVLCGE WIETMWDCME VAGQTMCLTV FMMVMVIGNL VVLNLFLALL LSSFSSDNLA ATDDDNEMNN LQIAVGRMQK GIDFVKRKIR EFIQKAFVRK QKALDEIKPL EDLNNKKDSC ISNHTTIEIG KDLNYLKDGN GTTSGIGSSV EKYVVDESDY MSFINNPSLT VTVPIAVGES DFENLNTEEF SSESDMEESK EKLNATSSSE GSTVDIGAPA EGEQPEVEPE ESLEPEACFT EDCVRKFKCC QISIEEGKGK LWWNLRKTCY KIVEHNWFET FIVFMILLSS GALAFEDIYI EQRKTIKTML EYADKVFTYI FILEMLLKWV AYGFQVYFTN AWCWLDFLIV DVSLVSLTAN ALGYSELGAI KSLRTLRALR PLRALSRFEG MRVVVNALLG AIPSIMNVLL VCLIFWLIFS IMGVNLFAGK FYHCINYTTG EMFDVSVVNN YSECKALIES NQTARWKNVK VNFDNVGLGY LSLLQVATFK GWMDIMYAAV DSRNVELQPK YEDNLYMYLY FVIFIIFGSF FTLNLFIGVI IDNFNQQKKK FGGQDIFMTE EQKKYYNAMK KLGSKKPQKP IPRPANKFQG MVFDFVTKQV FDISIMILIC LNMVTMMVET DDQSQEMTNI LYWINLVFIV LFTGECVLKL ISLRYYYFTI GWNIFDFVVV ILSIVGMFLA ELIEKYFVSP TLFRVIRLAR IGRILRLIKG AKGIRTLLFA LMMSLPALFN IGLLLFLVMF IYAIFGMSNF AYVKREVGID DMFNFETFGN SMICLFQITT SAGWDGLLAP ILNSGPPDCD PDKDHPGSSV KGDCGNPSVG IFFFVSYIII SFLVVVNMYI AVILENFSVA TEESAEPLSE DDFEMFYEVW EKFDPDATQF IEFAKLSDFA DALDPPLLIA KPNKVQLIAM DLPMVSGDRI HCLDILFAFT KRVLGESGEM DALRIQMEER FMASNPSKVS YEPITTTLKR KQEEVSAIII QRAYRRYLLK QKVKKVSSIY KKDKGKECDG TPIKEDTLID KLNENSTPEK TDMTPSTTSP PSYDSVTKPE KEKFEKDKSE KEDKGKDIRE SKK //