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Basic
Network
Structure
Seq./Align.
Variant
Phylogenetic Tree
Pathway
Disease

Detail Data SLC6A12


Basic description
Gene Name SLC6A12
Protein Name Sodium- and chloride-dependent betaine transporter (BGT-1) (Na(+)/Cl(-) betaine/GABA transporter) (Solute carrier family 6 member 12)
Family SLC6
Category Transport of bile salts and organic acids, metal ions and amine compounds|Transport of inorganic cations/anions and amino acids/oligopeptides
Reaction name SLC6A12 (BGT-1)-mediated uptake of GABA and betaine
Reaction 2 Cl- [extracellular region] + 1 ligands of SLC6A12 (BGT-1) [extracellular region] + 3 Na+ [extracellular region] --> 1 ligands of SLC6A12 (BGT-1) [cytosol] + 3 Na+ [cytosol] + 2 Cl- [cytosol]

Network
Structure


[Overview]
Position 1 0 2 0 3 0 4 0 5 0 6 0 7 0 8 0 9 0 1 0 0 1 1 0 1 2 0 1 3 0 1 4 0 1 5 0 1 6 0 1 7 0 1 8 0 1 9 0 2 0 0 2 1 0 2 2 0 2 3 0 2 4 0 2 5 0 2 6 0 2 7 0 2 8 0 2 9 0 3 0 0 3 1 0 3 2 0 3 3 0 3 4 0 3 5 0 3 6 0 3 7 0 3 8 0 3 9 0 4 0 0 4 1 0 4 2 0 4 3 0 4 4 0 4 5 0 4 6 0 4 7 0 4 8 0 4 9 0 5 0 0 5 1 0 5 2 0 5 3 0 5 4 0 5 5 0 5 6 0 5 7 0 5 8 0 5 9 0 6 0 0 6 1 0 AA Pred 
        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 
MDGKVAVQEC GPPAVSWVPE EGEKLDQEDE DQVKDRGQWT NKMEFVLSVA GEIIGLGNVW RFPYLCYKNG GGAFFIPYFI FFFVCGIPVF FLEVALGQYT SQGSVTAWRK ICPLFQGIGL ASVVIESYLN VYYIIILAWA LFYLFSSFTS ELPWTTCNNF WNTEHCTDFL NHSGAGTVTP FENFTSPVME FWERRVLGIT SGIHDLGSLR WELALCLLLA WVICYFCIWK GVKSTGKVVY FTATFPYLML VILLIRGVTL PGAYQGIIYY LKPDLFRLKD PQVWMDAGTQ IFFSFAICQG CLTALGSYNK YHNNCYKDCI ALCFLNSATS FVAGFVVFSI LGFMSQEQGV PISEVAESGP GLAFIAFPKA VTMMPLSQLW SCLFFIMLIF LGLDSQFVCV ECLVTASIDM FPRQLRKSGR RELLILTIAV MCYLIGLFLV TEGGMYIFQL FDYYASSGIC LLFLSLFEVV CISWVYGADR FYDNIEDMIG YRPWPLVKIS WLFLTPGLCL ATFLFSLSKY TPLKYNNVYV YPPWGYSIGW FLALSSMVCV PLFVVITLLK TRGPFRKRLR QLITPDSSLP QPKQHPCLDG SAGRNFGPSP TREGLIAGEK ETHL 
CCCCCCCCCC CCCCCCCCCC CCCCCCCCCH HHCCCCCCCC CHHHHHHHHH HHHHCCCCHH HHHHHHHHCC CCHHHHCHHH HHHHCHHHHH HHHHHHCCHH HCCCHHEECC CCCCCCCCCC CHHHHHHHHH HHHHHHHHHH HHHHHHHCCC CCCCCCCCCC CCCCCCCHHH CCCCCCCCCC CCCCCCCCHH HHHHHHHCCC CCCCCCCCCH HHHHHHHHHH HHHHHHHHHH CCCCCCHHHH HHCCHHHHHH HHHHHHHHCC CCCCCCEEEE ECCCHHHCCC HHHHHHHHHH HHHHHHHHHH HHHHHHCCCC CCCCCCCCEE EEHHCCCCCC HHHHHHHHHH HHHHHHHCCC CCCCCCCCCC CCCEECCHHH HHHCCHHHHH HHHHHHHHHH HHCHHHHHHH HHHCHHHHHC CHHHHHHCCC HHHHHHHHHH HHHHHHHHHH HCCCCHHHHH HHHCHHCCHH HHHHHHHHHH HHHHHHCCHH HHHHHHHHHC CCCCCCCCHH HHHHHHHHHH HHHHHHHHHC CCCCCCCCCC CHHHHHHHHH HHHHHHHHHH HHHHHHHHHC CCCCHHHHHH HHCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCC
[Overview] SLC6A1 SLC6A11 SLC6A12 SLC6A13 SLC6A14 SLC6A15 SLC6A16 SLC6A17 SLC6A18 SLC6A19 SLC6A2 SLC6A20 SLC6A3 SLC6A4 SLC6A5 SLC6A6 SLC6A7 SLC6A8 SLC6A9 
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
-- SLC6A12 10 C/Y 0.000242624 rs150191926
-- SLC6A12 10 C/R 0.51471 rs557881
-- SLC6A12 20 E/K 0.00081919 rs144983323
-- SLC6A12 41 S/F 0.0185334 rs188610
-- SLC6A12 46 A/V 0.000123394 rs199521597
-- SLC6A12 59 N/S 0.00238288 rs112982618
-- SLC6A12 132 Y/S 0.000159079 rs201072513
-- SLC6A12 203 I/V 0.000354782 rs143648821
-- SLC6A12 222 V/I 0.00517285 rs11061915
-- SLC6A12 334 G/E 0.000155361 rs776355858
-- SLC6A12 357 E/K 0.000769385 rs61907109
-- SLC6A12 366 A/T 0.000123373 rs151111165
-- SLC6A12 392 G/E 0.00012739 rs199886374
-- SLC6A12 416 R/Q 0.000143309 rs149207141
-- SLC6A12 478 A/V 0.000502132 rs201403020
-- SLC6A12 492 R/W 0.000151186 rs141848384
-- SLC6A12 494 W/S 0.00195314 rs138178078
-- SLC6A12 562 R/Q 0.000123323 rs577163007
-- SLC6A12 583 K/E 0.000648767 rs200303640
-- SLC6A12 598 P/S 0.00640754 rs629311
-- SLC6A12 611 E/Q 0.000525509 rs147574089

Phylogenetic tree

Pathway
Priority Gene Name Reactome (Gene) Reactome (Pathway)
main SLC6A12 SLC6A12 [plasma membrane] Amino acid transport across the plasma membrane
main SLC6A12 SLC6A12 [plasma membrane] Na+/Cl- dependent neurotransmitter transporters
SLC6A12 SLC6A12 [plasma membrane] Creatine metabolism
SLC6A12 SLC6A12 [plasma membrane] Reuptake of GABA

Disease
Gene Name Reactome (Gene) Reactome (Pathway)
No data