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Disease |
Detail Data SLC6A2
Basic description
Gene Name | SLC6A2 |
---|---|
Protein Name | Sodium-dependent noradrenaline transporter (Norepinephrine transporter) (NET) (Solute carrier family 6 member 2) |
Family | SLC6 |
Category | Transport of bile salts and organic acids, metal ions and amine compounds |
Reaction name |
SLC6A2 cotransports NAd, Na+ from extracellular region to cytosol Defective SLC6A2 does not cotransport NAd, Na+ from extracellular region to cytosol |
Reaction |
1 NAd [extracellular region] + 1 Na+ [extracellular region] --> 1 NAd [cytosol] + 1 Na+ [cytosol] 1 NAd [extracellular region] + 1 Na+ [extracellular region] --> |
[Overview]
10 20 30 40 50 60 70 80 90 100 110 120 130 140 150 160 170 180 190 200 210 220 230 240 250 260 270 280 290 300 310 320 330 340 350 360 370 380 390 400 410 420 430 440 450 460 470 480 490 500 510 520 530 540 550 560 570 580 590 600 610 MLLARMNPQV QPENNGADTG PEQPLRARKT AELLVVKERN GVQCLLAPRD GDAQPRETWG KKIDFLLSVV GFAVDLANVW RFPYLCYKNG GGAFLIPYTL FLIIAGMPLF YMELALGQYN REGAATVWKI CPFFKGVGYA VILIALYVGF YYNVIIAWSL YYLFSSFTLN LPWTDCGHTW NSPNCTDPKL LNGSVLGNHT KYSKYKFTPA AEFYERGVLH LHESSGIHDI GLPQWQLLLC LMVVVIVLYF SLWKGVKTSG KVVWITATLP YFVLFVLLVH GVTLPGASNG INAYLHIDFY RLKEATVWID AATQIFFSLG AGFGVLIAFA SYNKFDNNCY RDALLTSSIN CITSFVSGFA IFSILGYMAH EHKVNIEDVA TEGAGLVFIL YPEAISTLSG STFWAVVFFV MLLALGLDSS MGGMEAVITG LADDFQVLKR HRKLFTFGVT FSTFLLALFC ITKGGIYVLT LLDTFAAGTS ILFAVLMEAI GVSWFYGVDR FSNDIQQMMG FRPGLYWRLC WKFVSPAFLL FVVVVSIINF KPLTYDDYIF PPWANWVGWG IALSSMVLVP IYVIYKFLST QGSLWERLAY GITPENEHHL VAQRDIRQFQ LQHWLAI CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCEEECCCC CCCCCCCCCC CCCCCCCCCC CHHHHHHHHH HHHCCCCCHH HHHHHHHHCC CCCCCHHHHH HHHHHHHHHH HHHHHHCCCC CCCCCCCCHH CCHHCCCHHH HHHHHHHHHH HHHHHHHHHH HHHHHCCCCC CCCCCCCCCC CCCCCCCHHH CCCCCCCCCC CCCCCCCCCC HHHHHCCCEE ECCCCCCCCC CCCHHHHHHH HHHHHHHHHH HHCCCCCCCC EEEEEECCHH HHHHHHHHHH HCCCCCCCCC HHHHHHHCHH HHHHCCHHHH HHHHHHHHHC CCCCHHHHHH HHCCCCCCCH HHHHHCCCCC CCHHHHCCCC HHHHHCCCCC CCCCCCHHCC CCCCCCCEEC CHHHHHHHHC HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHCCCCCCH HCCHHHHHHH HHHHHHHHHH HHCCCCEEEE CCCCCCCCCH HHHHHHHHHH HHHHHCCCCC HHHHHHHHHC CCCCCEEEEE EEECCCHHHE EEEEEECCCC CCCCCCCCCC HHHHHHHHHH HHHHHHHHHH HHHHHHHHCC CCCHHHHHHH HCCCCCCCCC CCHHHHHHHH HHHHCCC
[Overview]
SLC6A1 ---------MAT----------------NG----------------------------------------SKVADGQIS---------------------------TEVSEAPVA------------------NDKPK------------------------------------------------TLVVKVQKKAADLPD------RDTWKGRFDFLMSCVGYAIGLGNVWRFPYLCGKNGGGAFLIPYFLTLIFAGVPLFLLECSLGQYTSIGGLGVW-KLAPMFKGVGLAAAVLSFWLNIYYIVIISWAIYYLYNSFTTTLPWKQC------DNPWNTDRC-------F--------SNYSM----------------------VN-TTNMT------------SAVVEFWERNMHQM--TDGLDKPGQIRWPLAITLAIAWILVYFCIWKGVGWTGKVVYFSATYPYIMLIILFFRGVTLPGAKEGILFYITPN--FRKLSDSEVWLDAATQIFFSYGLGLGSLIALGSYNSFHNNVYRDSIIVCCINSCTSMFAGFVIFSIVGFMAHVT----------------------------KRSIADVAAS---------------------------------------GPGLAFLAYPEAVTQLPISPLWAILFFSMLLMLGIDSQFCTVEGFITALVDEY---PRLLR--NRRELFIAAVCIISYLIGLSNITQGGIYVFKLFDYYSASGMSLLFLVFFECVSISWFYGVNRFYDNIQEMVGSRPCIW---WKLCWSFFTPIIVAGVFIFSAV---QMTPLTMGN-YV---------------FPKWGQGVGWLMALSSMVLIPGY--------------MAYMFLTLKG-SLKQRIQVMVQPSEDIVRPE-----NGPEQPQA-----------GSS-------------------------TSKEAYI----------------------- SLC6A11 ----------MTAE--------KALPLGNG----------------------------------------KAAEEARESEAPGG----------------------GCSSGGAAP------------------ARHP------------------------------------------------------RVKRDKAVHE------RGHWNNKVEFVLSVAGEIIGLGNVWRFPYLCYKNGGGAFLIPYVVFFICCGIPVFFLETALGQFTSEGGITCWRKVCPLFEGIGYATQVIEAHLNVYYIIILAWAIFYLSNCFTTELPWATC------GHEWNTENC-------VEFQ-KLNVSNYSH----------------------VS-LQNAT------------SPVMEFWEHRVLAI--SDGIEHIGNLRWELALCLLAAWTICYFCIWKGTKSTGKVVYVTATFPYIMLLILLIRGVTLPGASEGIKFYLYPD--LSRLSDPQVWVDAGTQIFFSYAICLGCLTALGSYNNYNNNCYRDCIMLCCLNSGTSFVAGFAIFSVLGFMAYEQ----------------------------GVPIAEVAES---------------------------------------GPGLAFIAYPKAVTMMPLSPLWATLFFMMLIFLGLDSQFVCVESLVTAVVDMY---PKVFRRGYRRELLILALSVISYFLGLVMLTEGGMYIFQLFDSYAASGMCLLFVAIFECICIGWVYGSNRFYDNIEDMIGYRPPSL---IKWCWMIMTPGICAGIFIFFLI---KYKPLKYNNIYT---------------YPAWGYGIGWLMALSSMLCIPLW--------------ICITVWKTEG-TLPEKLQKLTTPSTDLKM-------RGKLG---------------VSPRMV-TVNDCDAKLKSDGT--IAAITEKETHF----------------------- SLC6A12 -------------------------------------------------------------------------MDGKVA-VQEC----------------------GPPAVSWVP------------------EEGEK----------------------------------------------------LDQEDEDQVKD------RGQWTNKMEFVLSVAGEIIGLGNVWRFPYLCYKNGGGAFFIPYFIFFFVCGIPVFFLEVALGQYTSQGSVTAWRKICPLFQGIGLASVVIESYLNVYYIIILAWALFYLFSSFTSELPWTTC------NNFWNTEHC-------TDF---LNHSGAGT----------------------VTPFENFT------------SPVMEFWERRVLGI--TSGIHDLGSLRWELALCLLLAWVICYFCIWKGVKSTGKVVYFTATFPYLMLVILLIRGVTLPGAYQGIIYYLKPD--LFRLKDPQVWMDAGTQIFFSFAICQGCLTALGSYNKYHNNCYKDCIALCFLNSATSFVAGFVVFSILGFMSQEQ----------------------------GVPISEVAES---------------------------------------GPGLAFIAFPKAVTMMPLSQLWSCLFFIMLIFLGLDSQFVCVECLVTASIDMF---PRQLRKSGRRELLILTIAVMCYLIGLFLVTEGGMYIFQLFDYYASSGICLLFLSLFEVVCISWVYGADRFYDNIEDMIGYRPWPL---VKISWLFLTPGLCLATFLFSLS---KYTPLKYNNVYV---------------YPPWGYSIGWFLALSSMVCVPLF--------------VVITLLKTRG-PFRKRLRQLITPDSSLPQPKQHPCLDGSAGRNF-----------GPSPTR-------------EGL--IAG--EKETHL----------------------- SLC6A13 -------------------------------------------------------------------------MDSRVS---------------------------GTTSNGETK------------------PVYPV----------------------------------------------------MEKKEEDGTLE------RGHWNNKMEFVLSVAGEIIGLGNVWRFPYLCYKNGGGAFFIPYLVFLFTCGIPVFLLETALGQYTSQGGVTAWRKICPIFEGIGYASQMIVILLNVYYIIVLAWALFYLFSSFTIDLPWGGC------YHEWNTEHC-------MEFQ-KTNGSLNG------------------------T-SENAT------------SPVIEFWERRVLKI--SDGIQHLGALRWELALCLLLAWVICYFCIWKGVKSTGKVVYFTATFPYLMLVVLLIRGVTLPGAAQGIQFYLYPN--LTRLWDPQVWMDAGTQIFFSFAICLGCLTALGSYNKYHNNCYRDCIALCFLNSGTSFVAGFAIFSILGFMSQEQ----------------------------GVPISEVAES---------------------------------------GPGLAFIAYPRAVVMLPFSPLWACCFFFMVVLLGLDSQFVCVESLVTALVDMY---PHVFRKKNRREVLILGVSVVSFLVGLIMLTEGGMYVFQLFDYYAASGMCLLFVAIFESLCVAWVYGAKRFYDNIEDMIGYRPWPL---IKYCWLFLTPAVCTATFLFSLI---KYTPLTYNKKYT---------------YPWWGDALGWLLALSSMVCIPAW--------------SLYRLGTLKG-PFRERIRQLMCPAEDLPQ-------RNPAGPSA-----------PATPRT---------------S--LLRLTELESHC----------------------- SLC6A14 ----------MDKL-------------------------------------KCP-----------------------------------SFFKCRE----------KEKVSAS--------------------------SENFHVG------------------------------------------------ENDENQD------RGNWSKKSDYLLSMIGYAVGLGNVWRFPYLTYSNGGGAFLIPYAIMLALAGLPLFFLECSLGQFASLGPVSVW-RILPLFQGVGITMVLISIFVTIYYNVIIAYSLYYMFASFQSELPWKNC------SS-WSDKNC--SRSPIVTHCNVSTVNKGIQEIIQMNKSW-------------VD-INNFTCINGSEIYQPGQLPSEQYWNKVALQR--SSGMNETGVIVWYLALCLLLAWLIVGAALFKGIKSSGKVVYFTALFPYVVLLILLVRGATLEGASKGISYYIGAQSNFTKLKEAEVWKDAATQIFYSLSVAWGGLVALSSYNKFKNNCFSDAIVVCLTNCLTSVFAGFAIFSILGHMAHIS----------------------------GKEVSQVVKS---------------------------------------GFDLAFIAYPEALAQLPGGPFWSILFFFMLLTLGLDSQFASIETITTTIQDLF---PKVMK--KMRVPITLGCCLVLFLLGLVCVTQAGIYWVHLIDHFCAG-WGILIAAILELVGIIWIYGGNRFIEDTEMMIGAKRWIFWLWWRACWFVITPILLIAIFIWSLV---QFHRPNYGA-IP---------------YPDWGVALGWCMIVFCIIWIPIM--------------AIIKIIQAKG-NIFQRLISCCRPASNWGP----YLEQHRGERYKDMV----------DPK-------KEADH-EIPT--VSGSRKPE-------------------------- SLC6A15 ----------MPKN------------------------------------------------------------------------SKVVKRELDDD---------VTESVKDLLS-----------------NEDAADDA---------------------FKTSELIVDGQE-------------EKDTDVEEGSEVED-----ERPAWNSKLQYILAQVGFSVGLGNVWRFPYLCQKNGGGAYLLPYLILLMVIGIPLFFLELSVGQRIRRGSIGVWNYISPKLGGIGFASCVVCYFVALYYNVIIGWSLFYFSQSFQQPLPWDQCPLVKNASHTFVEPEC------------------------------------------------------------EQSSATTYYWYREALNI--SSSISESGGLNWKMTICLLAAWVMVCLAMIKGIQSSGKIIYFSSLFPYVVLICFLIRAFLLNGSIDGIRHMFTPK--LEIMLEPKVWREAATQVFFALGLGFGGVIAFSSYNKRDNNCHFDAVLVSFINFFTSVLATLVVFAVLGFKANVINEKCITQNSETIMKFLKMGNISQDIIPHHINLSTVTAEDYHLVYDIIQKVKEEEFPAL---HLNSCKIEEELNKAVQGTGLAFIAFTEAMTHFPASPFWSVMFFLMLVNLGLGSMFGTIEGIVTPIVDTFKV---------RKEILTVICCLLAFCIGLIFVQRSGNYFVTMFDDYSAT-LPLLIVVILENIAVCFVYGIDKFMEDLKDMLGFAPSRY---YYYMWKYISPLMLLSLLIASVV-NMGLSPPGYNA-WIEDKASEEFLS-----YPTWGLVVCVSLVVFAILPVPVVFIVRRFNLIDDSSGNLASVTYKRGRVLKEPVNL----EGDDTSLIH-----------------GKIPSEMPSPNFGKNIYRKQSGSPTLDTA---PNGRYGIGYLMADI-MPDMPESDL-------- SLC6A16 ----------MKTE-----AQPSTSLLANTSWTGTVISD------------SVPGSQTWEDKGSLTRSATSWTSEAQVSAARVAE-AQARTSQPKQISV-------LEALTASAL------------------NQKPT-----------------------------------------------HEKVQMTEKKESEVLL-----ARPFWSSKTEYILAQVGFSMKPSCLWRFAYLWLNSGGCSFAAIYIFMLFLVGVPLLFLEMAAGQSMRQGGMGVWKIIAPWIGGVGYSSFMVCFILGLYFNVVNSWIIFYMSQSFQFPVPWEKCPL--TMNSSGFDPEC------------------------------------------------------------ERTTPSIYFWYQQALKA--SDRIEDGGSPVYSLVLPFFLCWCLVGAFMINGLKSTGKVIYVLVLLPCFIIVGFFIRTLLLEGAKFGLQQLVVAK--ISDVYNMSVWSLAGGQVLSNTGIGLGSVASLASYMPQSNNCLSDAFLVSVINLLTLLVFTSFNFCVLGFWATVITHRCCERNAEILLKLINLGKLPPDA---KPPVNLLYNP--TSIYNAWLSGLPQHIKSMVLREVTECNIETQFLKASEGPKFAFLSFVEAMSFLPPSVFWSFIFFLMLLAMGLSSAIGIMQGIITPLQDTF----SFFR--KHTKLLIVGVFLLMFVCGLFFTRPSGSYFIRLLSDYWIV-FPIIVVVVFETMAVSWAYGARRFLADLTILLGHPISPI---FGWLWPHLCPVVLLIIFVTMMV-HLCMKPITYMS-WDSSTSKEVLRP-----YPPWALLLMITLFAIVILPIPAYF-------------VYCRIHRIPF-----------RPKSGDGPMTA----------------------STSLPLSHQ----------------LTPSKEVQKEEIL------QVDETKYPSTCNVTS SLC6A17 ----------MPKN------------------------------------------------------------------------SKVTQREHSSEH--------VTESVADLLA-----------------LEEPVD-----------------------YKQSVLNVAGEA------------GGKQKAVEEELDAED------RPAWNSKLQYILAQIGFSVGLGNIWRFPYLCQKNGGGAYLVPYLVLLIIIGIPLFFLELAVGQRIRRGSIGVWHYICPRLGGIGFSSCIVCLFVGLYYNVIIGWSIFYFFKSFQYPLPWSECPVVRNGSVAVVEAEC------------------------------------------------------------EKSSATTYFWYREALDI--SDSISESGGLNWKMTLCLLVAWSIVGMAVVKGIQSSGKVMYFSSLFPYVVLACFLVRGLLLRGAVDGILHMFTPK--LDKMLDPQVWREAATQVFFALGLGFGGVIAFSSYNKQDNNCHFDAALVSFINFFTSVLATLVVFAVLGFKANIMNEKCVVENAEKILGYLNTNVLSRDLIPPHVNFSHLTTKDYMEMYNVIMTVKEDQFSAL---GLDPCLLEDELDKSVQGTGLAFIAFTEAMTHFPASPFWSVMFFLMLINLGLGSMIGTMAGITTPIIDTFKV---------PKEMFTVGCCVFAFLVGLLFVQRSGNYFVTMFDDYSAT-LPLTLIVILENIAVAWIYGTKKFMQELTEMLGFRPYRF---YFYMWKFVSPLCMAVLTTASII-QLGVTPPGYSA-WIKEEAAERYLY-----FPNWAMALLITLIVVATLPIPVVFVLRHFHLLSDGSNTL-SVSYKKGRMMKDISNL---EENDETRFIL-----------------SKVPSEAPSPMPTHRSYLGPGSTSPLETS-GNPNGRYGSGYLLA-----STPESEL-------- SLC6A18 ----------MAH-----------------------------------------------------------------------------APEPD-------------PAACDL-------------------------------------------------------------------------------------GD-----ERPKWDNKAQYLLSCTGFAVGLGNIWRFPYLCQTYGGGAFLIPYVIALVFEGIPIFHVELAIGQRLRKGSVGVWTAISPYLSGVGLGCVTLSFLISLYYNTIVAWVLWYLLNSFQHPLPWSSCPP--DLNRTGFVEEC------------------------------------------------------------QGSSAVSYFWYRQTLNI--TADINDSGSIQWWLLICLAASWAVVYMCVIRGIETTGKVIYFTALFPYLVLTIFLIRGLTLPGATKGLIYLFTPN--MHILQNPRVWLDAATQIFFSLSLAFGGHIAFASYNSPRNDCQKDAVVIALVNRMTSLYASIAVFSVLGFKATNDYEHCLDRNILSLINDFDFPE------------QSISRDDYPAVLMHLNATWPKRVAQL---PLKACLLEDFLDKSASGPGLAFVVFTETDLHMPGAPVWAMLFFGMLFTLGLSTMFGTVEAVITPLLDVGVL-PRW----VPKEALTGLVCLVCFLSATCFTLQSGNYWLEIFDNFAAS-PNLLMLAFLEVVGVVYVYGMKRFCDDIAWMTGRRPSPY---WRLTWRVVSPLL-LTIFVAYII-LLFWKPLRYKA-W--NPKYELFPSRQEKLYPGWARAACVLLSLLPVLWVPVA--------------ALAQLLTRRRRTWRDRDAR---PDTDMRPDTD-----------------TRPDTDM------------------------RPDTDMR-------------------------- SLC6A19 ----------MVRL---------------------------------------------------------------------------VLPNPGLDA--------RIPSLAELET-----------------IEQ-------------------------------------------------------------EEAS-----SRPKWDNKAQYMLTCLGFCVGLGNVWRFPYLCQSHGGGAFMIPFLILLVLEGIPLLYLEFAIGQRLRRGSLGVWSSIHPALKGLGLASMLTSFMVGLYYNTIISWIMWYLFNSFQEPLPWSDCPL--NENQTGYVDEC------------------------------------------------------------ARSSPVDYFWYRETLNI--STSISDSGSIQWWMLLCLACAWSVLYMCTIRGIETTGKAVYITSTLPYVVLTIFLIRGLTLKGATNGIVFLFTPN--VTELAQPDTWLDAGAQVFFSFSLAFGGLISFSSYNSVHNNCEKDSVIVSIINGFTSVYVAIVVYSVIGFRATQRYDDCFSTNILTLINGFDLPE------------GNVTQENFVDMQQRCNASDPAAYAQL---VFQTCDINAFLSEAVEGTGLAFIVFTEAITKMPLSPLWSVLFFIMLFCLGLSSMFGNMEGVVVPLQDLRVIPPKW-----PKEVLTGLICLGTFLIGFIFTLNSGQYWLSLLDSYAGS-IPLLIIAFCEMFSVVYVYGVDRFNKDIEFMIGHKPNIF---WQVTWRVVSPLLMLIIFLFFFV-VEVSQELTYSI-W--DPGYEEFPKSQKISYPNWVYVVVVIVAGVPSLTIPGY--------------AIYKLI-------RNHCQK---P-GDHQGLVS-----------------TLSTASM------------------------NGDLKY--------------------------- SLC6A2 -----MLLARMNPQ-----VQPENNGADTGPE-------------------QPLRARK-------TAELLVVKE---RNGVQ-------CLLAPR-----------DG--DAQ---------------------------------------------------------------------------------------P------RETWGKKIDFLLSVVGFAVDLANVWRFPYLCYKNGGGAFLIPYTLFLIIAGMPLFYMELALGQYNREGAATVW-KICPFFKGVGYAVILIALYVGFYYNVIIAWSLYYLFSSFTLNLPWTDC------GHTWNSPNC--------------------------------TD--PKLLNGSVL-G-NHTKYS-----KYKFTPAAEFYERGVLHLHESSGIHDIGLPQWQLLLCLMVVVIVLYFSLWKGVKTSGKVVWITATLPYFVLFVLLVHGVTLPGASNGINAYLHID--FYRLKEATVWIDAATQIFFSLGAGFGVLIAFASYNKFDNNCYRDALLTSSINCITSFVSGFAIFSILGYMAHEH----------------------------KVNIEDVATE---------------------------------------GAGLVFILYPEAISTLSGSTFWAVVFFVMLLALGLDSSMGGMEAVITGLADDF----QVLK--RHRKLFTFGVTFSTFLLALFCITKGGIYVLTLLDTFAAG-TSILFAVLMEAIGVSWFYGVDRFSNDIQQMMGFRPGLY---WRLCWKFVSPAFLLFVVVVSII---NFKPLTYDD-YI---------------FPPWANWVGWGIALSSMVLVPIY--------------VIYKFLSTQG-SLWERLAYGITPENEHHLVAQRDIRQFQLQHWLAI------------------------------------------------------------------- SLC6A20 ----------MEK-------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------ARPLWANSLQFVFACISYAVGLGNVWRFPYLCQMYGGGSFLVPYIIMLIVEGMPLLYLELAVGQRMRQGSIGAWRTISPYLSGVGVASVVVSFFLSMYYNVINAWAFWYLFHSFQDPLPWSVCPL--NGNHTGYDEEC------------------------------------------------------------EKASSTQYFWYRKTLNI--SPSLQENGGVQWEPALCLLLAWLVVYLCILRGTESTGKVVYFTASLPYCVLIIYLIRGLTLHGATNGLMYMFTPK--IEQLANPKAWINAATQIFFSLGLGFGSLIAFASYNEPSNNCQKHAIIVSLINSFTSIFASIVTFSIYGFKATFNYENCLKKVSLLLTNTFDLED------------GFLTASNLEQVKGYLASAYPSKYSEMF-PQIKNCSLESELDTAVQGTGLAFIVYTEAIKNMEVSQLWSVLYFFMLLMLGIGSMLGNTAAILTPLTDSKIISSHL-----PKEAISGLVCLVNCAIGMVFTMEAGNYWFDIFNDYAAT-LSLLLIVLVETIAVCYVYGLRRFESDLKAMTGRAVSWY---WKVMWAGVSPLLIVSLFVFYLSDYILTGTLKYQA-W--DASQGQLVTKD---YPAYALAVIGLLVASSTMCIPLA--------------ALGTFVQRRLK--R----------GDADPVA---------------------------------------------------------------------------------- SLC6A3 MSKSKCSVGLMSSV-----VAPAKEPNAVGP--------------------------K-------EVELILVKE---QNGVQLT---SSTLTNPR-----------QSPVEAQ---------------------------------------------------------------------------------------D------RETWGKKIDFLLSVIGFAVDLANVWRFPYLCYKNGGGAFLVPYLLFMVIAGMPLFYMELALGQFNREGAAGVW-KICPILKGVGFTVILISLYVGFFYNVIIAWALHYLFSSFTTELPWIHC------NNSWNSPNC--------------------------------SDAHPGDSSGDSS-GLNDT---------FGTTPAAEYFERGVLHLHQSHGIDDLGPPRWQLTACLVLVIVLLYFSLWKGVKTSGKVVWITATMPYVVLTALLLRGVTLPGAIDGIRAYLSVD--FYRLCEASVWIDAATQVCFSLGVGFGVLIAFSSYNKFTNNCYRDAIVTTSINSLTSFSSGFVVFSFLGYMAQKH----------------------------SVPIGDVAKD---------------------------------------GPGLIFIIYPEAIATLPLSSAWAVVFFIMLLTLGIDSAMGGMESVITGLIDEF----QLLH--RHRELFTLFIVLATFLLSLFCVTNGGIYVFTLLDHFAAG-TSILFGVLIEAIGVAWFYGVGQFSDDIQQMTGQRPSLY---WRLCWKLVSPCFLLFVVVVSIV---TFRPPHYGA-YI---------------FPDWANALGWVIATSSMAMVPIY--------------AAYKFCSLPG-SFREKLAYAIAPEKDRELVDRGEVRQFTLRHWLKV------------------------------------------------------------------- SLC6A4 --------------------------METTP----------------------LNSQK-------QLSACEDGEDCQENGVL-----QKVVPTPG-----------DKVESGQIS--NGYSA-----------VPSPG--------------------------------AGDDTRHSIPAT-------TTTLVAELHQGE------RETWGKKVDFLLSVIGYAVDLGNVWRFPYICYQNGGGAFLLPYTIMAIFGGIPLFYMELALGQYHRNGCISIWRKICPIFKGIGYAICIIAFYIASYYNTIMAWALYYLISSFTDQLPWTSC------KNSWNTGNC--------------------------------TNYFSED---------NIT-WT-----LHSTSPAEEFYTRHVLQIHRSKGLQDLGGISWQLALCIMLIFTVIYFSIWKGVKTSGKVVWVTATFPYIILSVLLVRGATLPGAWRGVLFYLKPN--WQKLLETGVWIDAAAQIFFSLGPGFGVLLAFASYNKFNNNCYQDALVTSVVNCMTSFVSGFVIFTVLGYMAEMR----------------------------NEDVSEVAKD--------------------------------------AGPSLLFITYAEAIANMPASTFFAIIFFLMLITLGLDSTFAGLEGVITAVLDEF---PHVWA--KRRERFVLAVVITCFFGSLVTLTFGGAYVVKLLEEYATG-PAVLTVALIEAVAVSWFYGITQFCRDVKEMLGFSPGWF---WRICWVAISPLFLLFIICSFLM---SPPQLRLFQ-YN---------------YPYWSIILGYCIGTSSFICIPTY--------------IAYRLIITPG-TFKERIIKSITPETPTE-IPCGDIRLNAV------------------------------------------------------------------------- SLC6A5 --MDCSAPKEMNKLPANSPEAAAAQGHPDGPCAPRTSPEQELPAAAAPPPPRVPRSAS-------TGAQTFQSADARACEAERPGVGSCKLSSPRAQAASAALRDLREAQGAQASPPPGSSGPGNALHCKIPFLRGPEGDANVSVGKGTLERNNTPVVGWVNMSQSTVVLATDGITSVLP------GSVATVATQEDEQGDENKA--RGNWSSKLDFILSMVGYAVGLGNVWRFPYLAFQNGGGAFLIPYLMMLALAGLPIFFLEVSLGQFASQGPVSVW-KAIPALQGCGIAMLIISVLIAIYYNVIICYTLFYLFASFVSVLPWGSC------NNPWNTPECKDKTKLLLDSCVISDHPK-----IQIKNSTFCMTAYPN-----VT-MVNFTSQAN----KTFVSGSEEYFKYFVLKI--SAGIEYPGEIRWPLALCLFLAWVIVYASLAKGIKTSGKVVYFTATFPYVVLVILLIRGVTLPGAGAGIWYFITPK--WEKLTDATVWKDAATQIFFSLSAAWGGLITLSSYNKFHNNCYRDTLIVTCTNSATSIFAGFVIFSVIGFMANER----------------------------KVNIENVADQ---------------------------------------GPGIAFVVYPEALTRLPLSPFWAIIFFLMLLTLGLDTMFATIETIVTSISDEF---PKYLR--THKPVFTLGCCICFFIMGFPMITQGGIYMFQLVDTYAAS-YALVIIAIFELVGISYVYGLQRFCEDIEMMIGFQPNIF---WKVCWAFVTPTILTFILCFSFY---QWEPMTYGS-YR---------------YPNWSMVLGWLMLACSVIWIPIM--------------FVIKMHLAPG-RFIERLKLVCSPQPDWGP----FLAQHRGERYKNMI----------DPL---------------------GTSSLGLKLPVKDLELGTQC------------ SLC6A6 ---------MATKE--------KLQCL----------------------------------------------KDFHKDILK--------------------------PSPGKSP------------------GTRP------------------------------------------------------EDEAEGKPPQ------REKWSSKIDFVLSVAGGFVGLGNVWRFPYLCYKNGGGAFLIPYFIFLFGSGLPVFFLEIIIGQYTSEGGITCWEKICPLFSGIGYASVVIVSLLNVYYIVILAWATYYLFQSFQKELPWAHC------NHSWNTPHC-------MEDTMRKNKSVWIT----------------------IS-STNFT------------SPVIEFWERNVLSL--SPGIDHPGSLKWDLALCLLLVWLVCFFCIWKGVRSTGKVVYFTATFPFAMLLVLLVRGLTLPGAGAGIKFYLYPD--ITRLEDPQVWIDAGTQIFFSYAICLGAMTSLGSYNKYKYNSYRDCMLLGCLNSGTSFVSGFAIFSILGFMAQEQ----------------------------GVDIADVAES---------------------------------------GPGLAFIAYPKAVTMMPLPTFWSILFFIMLLLLGLDSQFVEVEGQITSLVDLY---PSFLRKGYRREIFIAFVCSISYLLGLTMVTEGGMYVFQLFDYYAASGVCLLWVAFFECFVIAWIYGGDNLYDGIEDMIGYRPGPW---MKYSWAVITPVLCVGCFIFSLV---KYVPLTYNKTYV---------------YPNWAIGLGWSLALSSMLCVPLV--------------IVIRLCQTEG-PFLVRVKYLLTPRE--PN-------RWAVERE------------GATPYN------------SRTV--MNGALVKPTHIIV---------ETMM-------- SLC6A7 ----------MKKL-----------------------------------------------------------------------------------------------QGAH--------------------LRKP----------------------------------------VTP------DLLMTPSDQGDVDLDVDFAAHRGNWTGKLDFLLSCIGYCVGLGNVWRFPYRAYTNGGGAFLVPYFLMLAICGIPLFFLELSLGQFSSLGPLAVW-KISPLFKGAGAAMLLIVGLVAIYYNMIIAYVLFYLFASLTSDLPWEHC------GNWWNTELC-------LEHRVSKDG----------------NGALP----------LNLTCT---------VSPSEEYWSRYVLHIQGSQGIGSPGEIRWNLCLCLLLAWVIVFLCILKGVKSSGKVVYFTATFPYLILLMLLVRGVTLPGAWKGIQFYLTPQ--FHHLLSSKVWIEAALQIFYSLGVGFGGLLTFASYNTFHQNIYRDTFIVTLGNAITSILAGFAIFSVLGYMSQEL----------------------------GVPVDQVAKA---------------------------------------GPGLAFVVYPQAMTMLPLSPFWSFLFFFMLLTLGLDSQFAFLETIVTAVTDEF---PYYLR--PKKAVFSGLICVAMYLMGLILTTDGGMYWLVLLDDYSAS-FGLMVVVITTCLAVTRVYGIQRFCRDIHMMLGFKPGLY---FRACWLFLSPATLLALMVYSIV---KYQPSEYGS-YR---------------FPPWAELLGILMGLLSCLMIPAG--------------MLVAVLREEG-SLWERLQQASRPAMDWGP----SLEENRTGMYVATLAGSQ----SPKPLM------VHMRK-------YGGITSFENTAIEVDREIAEEEESMM-------- SLC6A8 ----------MAKK--------SAE---NGI--------------------------------------YSVSGDEKKGPLIAP----------------------G-PDGAPAK------------------GDGPV------------------------------------------------G--LGTPGGRLAVPP------RETWTRQMDFIMSCVGFAVGLGNVWRFPYLCYKNGGGVFLIPYVLIALVGGIPIFFLEISLGQFMKAGSINVW-NICPLFKGLGYASMVIVFYCNTYYIMVLAWGFYYLVKSFTTTLPWATC------GHTWNTPDC-------VEI---FRHEDCAN----------------------AS-LANLTCDQLADR----RSPVIEFWENKVLRL--SGGLEVPGALNWEVTLCLLACWVLVYFCVWKGVKSTGKIVYFTATFPYVVLVVLLVRGVLLPGALDGIIYYLKPD--WSKLGSPQVWIDAGTQIFFSYAIGLGALTALGSYNRFNNNCYKDAIILALINSGTSFFAGFVVFSILGFMAAEQ----------------------------GVHISKVAES---------------------------------------GPGLAFIAYPRAVTLMPVAPLWAALFFFMLLLLGLDSQFVGVEGFITGLLDLL---PASYYFRFQREISVALCCALCFVIDLSMVTDGGMYVFQLFDYYSASGTTLLWQAFWECVVVAWVYGADRFMDDIACMIGYRPCPW---MKWCWSFFTPLVCMGIFIFNVV---YYEPLVYNNTYV---------------YPWWGEAMGWAFALSSMLCVPLH--------------LLGCLLRAKG-TMAERWQHLTQPIWGLHH------LEYRAQ---------------------------DADVRGLTT--LTPVSESSKVVVV---------ESVM-------- SLC6A9 ----------------------------------------------------------------------MSGGDTRA-----------AIARPRM-------------AAAH----------------------GP----------------------------------------VAPSSPEQNGAVPSEATKRDQNLK------RGNWGNQIEFVLTSVGYAVGLGNVWRFPYLCYRNGGGAFMFPYFIMLIFCGIPLFFMELSFGQFASQGCLGVW-RISPMFKGVGYGMMVVSTYIGIYYNVVICIAFYYFFSSMTHVLPWAYC------NNPWNTHDC----AGVLDASNLTNGSR--------------PAALPSN---LSH-LLNHSLQR--------TSPSEEYWRLYVLKL--SDDIGNFGEVRLPLLGCLGVSWLVVFLCLIRGVKSSGKVVYFTATFPYVVLTILFVRGVTLEGAFDGIMYYLTPQ--WDKILEAKVWGDAASQIFYSLGCAWGGLITMASYNKFHNNCYRDSVIISITNCATSVYAGFVIFSILGFMANHL----------------------------GVDVSRVADH---------------------------------------GPGLAFVAYPEALTLLPISPLWSLLFFFMLILLGLGTQFCLLETLVTAIVDEVG--NEWIL--QKKTYVTLGVAVAGFLLGIPLTSQAGIYWLLLMDNYAAS-FSLVVISCIMCVAIMYIYGHRNYFQDIQMMLGFPPPLF---FQICWRFVSPAIIFFILVFTVI---QYQPITYNH-YQ---------------YPGWAVAIGFLMALSSVLCIPLY--------------AMFRLCRTDGDTLLQRLKNATKPSRDWGP----ALLEHRTGRYAPTIAPSPEDGFEVQPL--------HPDKAQIPIVGSNGSSRLQDSRI----------------------
Variant
check | gene name | residue number | Reference Amino Acid / Variant Amino Acid | minor allele frequency | rs number |
---|---|---|---|---|---|
-- | SLC6A2 | 6 | A/T | 0.000151682 | rs369020982 |
-- | SLC6A2 | 7 | N/K | 0.000619634 | rs11568323 |
-- | SLC6A2 | 19 | A/T | 0.0065164 | rs5560 |
-- | SLC6A2 | 21 | D/E | 0.000124185 | rs201384450 |
-- | SLC6A2 | 25 | P/R | 0.000111658 | rs373241242 |
-- | SLC6A2 | 26 | P/R | 0.000327189 | rs376015006 |
-- | SLC6A2 | 26 | G/A | 0.00014757 | rs201793493 |
-- | SLC6A2 | 27 | C/Y | 0.00695187 | rs11568343 |
-- | SLC6A2 | 40 | N/Y | 0.000108315 | rs376306835 |
-- | SLC6A2 | 69 | V/I | 0.000397788 | rs1805064 |
-- | SLC6A2 | 99 | T/I | 0.00950107 | rs1805065 |
-- | SLC6A2 | 165 | S/F | 0.000258579 | rs569629600 |
-- | SLC6A2 | 211 | A/T | 0.000111516 | rs188235131 |
-- | SLC6A2 | 245 | V/I | 0.00606507 | rs1805066 |
-- | SLC6A2 | 247 | V/I | 0.000234645 | rs11568341 |
-- | SLC6A2 | 283 | T/R | 0.00135232 | rs45564432 |
-- | SLC6A2 | 289 | N/S | 0.00033013 | rs77951841 |
-- | SLC6A2 | 468 | V/I | 0.000171041 | rs201885636 |
-- | SLC6A2 | 549 | I/T | 0.00322545 | rs3743788 |
-- | SLC6A2 | 580 | T/M | 0.000171624 | rs148686754 |
-- | SLC6A2 | 600 | L/V | 0.000111658 | rs373241242 |
-- | SLC6A2 | 601 | V/L | 0.00014757 | rs201793493 |
-- | SLC6A2 | 609 | F/Y | 0.00115372 | rs139680023 |
Phylogenetic tree
Pathway
Priority | Gene Name | Reactome (Gene) | Reactome (Pathway) |
---|---|---|---|
main | SLC6A2 | SLC6A2 [plasma membrane] | Na+/Cl- dependent neurotransmitter transporters |
Disease
Gene Name | Reactome (Gene) | Reactome (Pathway) |
---|---|---|
SLC6A2 | SLC6A2 A457P [plasma membrane] | Defective SLC6A2 causes orthostatic intolerance (OI) |