Detail Data SLC12A6

Basic description

Gene Name	SLC12A6
Protein Name	Solute carrier family 12 member 6 (Electroneutral potassium-chloride cotransporter 3) (K-Cl cotransporter 3)
Family	SLC12
Category	Transport of inorganic cations/anions and amino acids/oligopeptides
Reaction name	-
Reaction	-

Network

Structure

Sequence

[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        620        630        640        650        660        670        680        690        700        710        720        730        740        750        760        770        780        790        800        810        820        830        840        850        860        870        880        890        900        910        920        930        940        950        960        970        980        990       1000       1010       1020       1030       1040       1050       1060       1070       1080       1090       1100       1110       1120       1130       1140       1150 
MHPPETTTKM ASVRFMVTPT KIDDIPGLSD TSPDLSSRSS SRVRFSSRES VPETSRSEPM SEMSGATTSL ATVALDPPSD RTSHPQDVIE DLSQNSITGE HSQLLDDGHK KARNAYLNNS NYEEGDEYFD KNLALFEEEM DTRPKVSSLL NRMANYTNLT QGAKEHEEAE NITEGKKKPT KTPQMGTFMG VYLPCLQNIF GVILFLRLTW VVGTAGVLQA FAIVLICCCC TMLTAISMSA IATNGVVPAG GSYFMISRAL GPEFGGAVGL CFYLGTTFAA AMYILGAIEI FLVYIVPRAA IFHSDDALKE SAAMLNNMRV YGTAFLVLMV LVVFIGVRYV NKFASLFLAC VIVSILAIYA GAIKSSFAPP HFPVCMLGNR TLSSRHIDVC SKTKEINNMT VPSKLWGFFC NSSQFFNATC DEYFVHNNVT SIQGIPGLAS GIITENLWSN YLPKGEIIEK PSAKSSDVLG SLNHEYVLVD ITTSFTLLVG IFFPSVTGIM AGSNRSGDLK DAQKSIPIGT ILAILTTSFV YLSNVVLFGA CIEGVVLRDK FGDAVKGNLV VGTLSWPSPW VIVIGSFFST CGAGLQSLTG APRLLQAIAK DNIIPFLRVF GHSKANGEPT WALLLTAAIA ELGILIASLD LVAPILSMFF LMCYLFVNLA CALQTLLRTP NWRPRFRYYH WALSFMGMSI CLALMFISSW YYAIVAMVIA GMIYKYIEYQ GAEKEWGDGI RGLSLSAARF ALLRLEEGPP HTKNWRPQLL VLLKLDEDLH VKHPRLLTFA SQLKAGKGLT IVGSVIVGNF LENYGEALAA EQTIKHLMEA EKVKGFCQLV VAAKLREGIS HLIQSCGLGG MKHNTVVMGW PNGWRQSEDA RAWKTFIGTV RVTTAAHLAL LVAKNISFFP SNVEQFSEGN IDVWWIVHDG GMLMLLPFLL KQHKVWRKCS IRIFTVAQLE DNSIQMKKDL ATFLYHLRIE AEVEVVEMHD SDISAYTYER TLMMEQRSQM LRHMRLSKTE RDREAQLVKD RNSMLRLTSI GSDEDEETET YQEKVHMTWT KDKYMASRGQ KAKSMEGFQD LLNMRPDQSN VRRMHTAVKL NEVIVNKSHE AKLVLLNMPG PPRNPEGDEN YMEFLEVLTE GLERVLLVRG GGSEVITIYS  
CCCCCCCCCC CCCCEEECCC CCCCCCCCCC CCCCCCCCCC CCCCCCCEEC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCHHHH HCCHHHCCCC CCCCCHHHHH HHHCCCCCCC CCCCHHHHHH HHCCCCCCCC CCCCCCEEEE ECHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHCCCCCCC CCCCCHHCCC CCCHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHCCCCCC EEECCCCCCC CHHHHHHHHH HHHHHHHHHH HHHHHCHHHH HHHHHHHHHH HHHHHHHHHH HHHHHCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCHHHCCHHC CCHHHHCCCC CCCCCCCCCC CCCCCCCCHH HHHHHCHHCC CCCCCCEECC CCCCCCCCCC CCCCCCCCCC HHHHHHHHHH HHCCCCCEEE CCCCCCCCCC CCCCCCCCHH HHHHHHHHHH HHHHHHHHHH HHHCCHHHHC CCCCCCCCHH HHHHCCCCCH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH CCCHHHHHCC CCCCCCCCHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHCCC CCCCCHHHHH HHHHHHHHHH HHHHHHHHCH HHHHHHHHHH HHHHHHHHHC CCCCCCCCCH HHHHHHHHHH HHHHHHHCCC CCCCCCCCEE EEECCHHHCC CCCHHHHHHH HHHHCCCCEE EEEEEEECCC CCCHHHHHHH HHHHHHHHHH CCCCEEEEEE EECCHHHHHH HHHHHCCCCC CCCCCEEECC CCCCCCCCCH HHHHHHHHHH HHHHHHHHHH HHHCCCCCCC CCCCCCCCCC CEEEEECCCC CHHHHHHHHH HHHHHHHCCC EEEEEEECCC CCHHHHHHHH HHHHHHHCCC CCCCCHHCCC CCCHHHHCCC CCHHHHHHHH HHHHCCCCCH HHHHHHHHHH HHHHCCCCCC CCCCCCCCHH HHHHHHHHHH CCHHHHCCCC CCCCCCCCHH HHCCCCCCCH HCHHHHHHHH HHHHHHCCCC CCEEEECCCC CCCCCCCHHH HHHHHHHHHC CCCCEEEEEE CCCEEEEEEC

Family alignment

[Overview]

SLC12A1   -------------------------------MSLNNSS--NVFLDSVPS---------------------------NTNRFQVSVINENHESSAAA---------------------DDNTDPPHYEETSFGDEAQKRLRISF------------RP-------------------------------------------------GNQECYDN----------------FLQSGETAKTD-ASFHA-------------YDSHTNTYYLQTFGHNTMDAVPKIEYYRNTGSISGPKVNRPSLLEIHEQLAKNV----------AVTPSSADRVANG-DGIPGDEQAENKEDDQAGVVKFGWVKGVLVRCMLNIWGVMLFIRLSWIVGEAGIGLGVLIILLSTMVTSITGLSTSAIATNGFVRGGGAYYLISRSLGPEFGGSIGLIFAFANAVAVAMYVVGFAETVVDLLK-------------ESDSMMVDPTNDIRII----------GSITVVILLGISVAGMEWEAKAQVILLVILLIAIANFFI-------------------GTVIPSNNE--------------------------------------------------------KKSRGFFNYQASIFAENFGPRFT----------------KGEG----------------FFSVFAIFFPAATGILAGANISGDLEDPQDAIPRGTMLAIFITTVAYLGVAICVGAC----VVRDATGNMNDTIISGM-NCNGSAACGLGYDFSRC-RHEPCQYGLMNNFQVMSMVSGFGP-LITAGIFSATLSSALASLVSAPKVFQALCKDNIYKALQFFAKGYGKNNEPLRGYILTFLIAMAFILIAELNTIAPIISNFFLASYALINFSCFHASYAK---SPGWRPAYGIYNMWVSLFGAVLCCAVMFVINWWAAVITYVIEFFLYVYVTCKKPDVNWGSSTQALSYVSALDNALELTTVEDHVKNFRPQCIVLTGGPM----TRPALLDITHAFTKNSGLCICCEVFVG------PRKLCVKEMNSGMAKKQAWLI---KNKIKAFYAAVAADCFRDGVRSLLQASGLGRMK-------------PNTLVIGYKKNWRKAPLTE----------------------------------------IENYVGIIHDAFDFEIGVVIVRISQGFDISQVLQVQEELERLEQER--------LALEATIKDN--------------ECEEESG--GIRGLFKKAGK-----LNITKTTPKKDGSINTSQSMHVGEFNQKLV----EASTQFKKKQEKGTIDVW-------------WL-----------FDDGGLTLL-IPYILTLRKKWKDCKLRIYV--------GGKINRIEEE----KIVMASLLSKFRIKFADIHII----GDINIRPNKESWKVFE---EMI--------EPYRLHESCKDLT--------------------------------------------------------------------TAEKLKRETPWKITDAELEAVK----------------------------EKSYRQVRLN------------ELLQEHSRAANLIVLSLPVARKGSISDLLYMAWLEILTKNL-PPVLLVRGNHKNVLTFYS-
SLC12A2   MEPRPTAPSSGAPGLAGVGETPSAAALAAARVELPGTAVPSVPEDAAPASRDGGGVRDEGPAAAGDGLGRPLGPTPSQSRFQVDLVSENAGRAAAAAAAAAAAAAAAGAGAGAKQTPADGEASGESEPAKGSEEAKGRFRVNF-----------VDP-------------------------------------------------AASSSAEDSLSDAAGVGVDGPNVSFQNGGDTVLSEGSSLHSGGGGGSGHHQHYYYDTHTNTYYLRTFGHNTMDAVPRIDHYRHTAAQLGEKLLRPSLAELHDELEKE---------------PFEDGFANGEESTPTRDAVVTYTAESKGVVKFGWIKGVLVRCMLNIWGVMLFIRLSWIVGQAGIGLSVLVIMMATVVTTITGLSTSAIATNGFVRGGGAYYLISRSLGPEFGGAIGLIFAFANAVAVAMYVVGFAETVVELLK-------------EHSILMIDEINDIRII----------GAITVVILLGISVAGMEWEAKAQIVLLVILLLAIGDFVI-------------------GTFIPLES---------------------------------------------------------KKPKGFFGYKSEIFNENFGPDFR----------------EEET----------------FFSVFAIFFPAATGILAGANISGDLADPQSAIPKGTLLAILITTLVYVGIAVSVGSC----VVRDATGNVNDTIVTELTNCT-SAACKLNFDFSSC-ESSPCSYGLMNNFQVMSMVSGFTP-LISAGIFSATLSSALASLVSAPKIFQALCKDNIYPAFQMFAKGYGKNNEPLRGYILTFLIALGFILIAELNVIAPIISNFFLASYALINFSVFHASLAK---SPGWRPAFKYYNMWISLLGAILCCIVMFVINWWAALLTYVIVLGLYIYVTYKKPDVNWGSSTQALTYLNALQHSIRLSGVEDHVKNFRPQCLVMTGAPN----SRPALLHLVHDFTKNVGLMICGHVHMG------PRRQAMKEMSIDQAKYQRWLI---KNKMKAFYAPVHADDLREGAQYLMQAAGLGRMK-------------PNTLVLGFKKDWLQADMRD----------------------------------------VDMYINLFHDAFDIQYGVVVIRLKEGLDISH-LQGQEELLS-SQEKSPGTKDVVVSVEYSKKSDLDTSKPLSEKPITHKVEEEDGKTATQPLLKKESKGPIVPLNVA---------------------DQKLL----EASTQFQKKQGKNTIDVW-------------WL-----------FDDGGLTLL-IPYLLTTKKKWKDCKIRVFI--------GGKINRIDHD----RRAMATLLSKFRIDFSDIMVL----GDINTKPKKENIIAFE---EII--------EPYRLHEDDKEQD--------------------------------------------------------------------IADKMKEDEPWRITDNELELYK----------------------------TKTYRQIRLN------------ELLKEHSSTANIIVMSLPVARKGAVSSALYMAWLEALSKDL-PPILLVRGNHQSVLTFYS-
SLC12A3   ------------------------------MAELPTTE--------TPG-----------------------DATLCSGRFTISTLLS-----------------------------SD------------------------------------EP-------------------------------------------------SPPAAYDSS------------------------------HPS------------HLTHSSTFCMRTFGYNTIDVVPTYEHYANSTQPGEPRKVRPTLADLHSFLKQEGRHLHALAFDSRPSHEMTDGLVEG-------EAGTSSEKNPEEPVRFGWVKGVMIRCMLNIWGVILYLRLPWITAQAGIVLTWIIILLSVTVTSITGLSISAISTNGKVKSGGTYFLISRSLGPELGGSIGLIFAFANAVGVAMHTVGFAETVRDLLQ-------------EYGAPIVDPINDIRII----------GVVSVTVLLAISLAGMEWESKAQVLFFLVIMVSFANYLV-------------------GTLIPPSED--------------------------------------------------------KASKGFFSYRADIFVQNLVPDWR----------------GPDGT---------------FFGMFSIFFPSATGILAGANISGDLKDPAIAIPKGTLMAIFWTTISYLAISATIGSC----VVRDASGVLNDTVTPGWGACE-GLACSYGWNFTECTQQHSCHYGLINYYQTMSMVSGFAP-LITAGIFGATLSSALACLVSAAKVFQCLCEDQLYPLIGFFGKGYGKNKEPVRGYLLAYAIAVAFIIIAELNTIAPIISNFFLCSYALINFSCFHASITN---SPGWRPSFQYYNKWAALFGAIISVVIMFLLTWWAALIAIGVVLFLLLYVIYKKPEVNWGSSVQAGSYNLALSYSVGLNEVEDHIKNYRPQCLVLTGPPN----FRPALVDFVGTFTRNLSLMICGHVLIG------PHKQRMPELQLIANGHTKWLN---KRKIKAFYSDVIAEDLRRGVQILMQAAGLGRMK-------------PNILVVGFKKNWQSAHPAT----------------------------------------VEDYIGILHDAFDFNYGVCVMRMREGLNVSKMMQAH-------------------------------INPVFDP-------AEDG---------KEASARGARPSVS------------------GALDPKALVKEEQATTIFQSEQGKKTIDIY-------------WL-----------FDDGGLTLL-IPYLLGRKRRWSKCKIRVFV--------GGQINRMDQE----RKAIISLLSKFRLGFHEVHIL----PDINQNPRAEHTKRFE---DMI--------APFRLNDGFKDEA--------------------------------------------------------------------TVNEMRRDCPWKISDEEITKNR----------------------------VKSLRQVRLN------------EIVLDYSRDAALIVITLPIGRKGKCPSSLYMAWLETLSQDLRPPVILIRGNQENVLTFYCQ
SLC12A4   ----------------------------------------------MP-------------------------------HFTVVPV----------------------------------DGPRRGD--------------------------------------------------------YDNLEGLSWVD-YGERAELDDSDGHGNHRESS--------------PFLSPLEASRGI-----------------DYYDRNLALF------EEELDI-------------------RPKVSSLLGKLVSYT------------------NLTQGAKEHEEAESGEGTRRRAAEAPSMGTLMGVYLPCLQNIFGVILFLRLTWMVGTAGVLQALLIVLICCCCTLLTAISMSAIATNGVVPAGGSYFMISRSLGPEFGGAVGLCFYLGTTFAAAMYILGAIEILLTYIAPPAAIFYPSGAHDTSNATL----NNMRVY----------GTIFLTFMTLVVFVGVKYVNKFASLFLACVIISILSIYAGGIK---------------SIFDPPVFPVCMLGNRTLSRDQFDICAKTAVVDNETVATQLWSFFCHSPNLTTDSCDPYFMLNNVTEIPGIPGAAAGVLQENLWSAYLEKGDIVEKHGLPSAD-APSLKESL-PLYVVADIATSFTVLVGIFFPSVTGIMAGSNRSGDLRDAQKSIPVGTILAIITTSLVYFSSVVLFGACIEGVVLRDKYG---DGVSRNL---------------------------------VVGTLAWPSPWVIVIGSFFSTCGAGLQSLTGAPRLLQAIAKDNIIPFLRVFGHG-KVNGEPTWALLLTALIAELGILIASLDMVAPILSMFFLMCYLFVNLACAVQTLLR---TPNWRPRFKYYHWALSFLGMSLCLALMFVSSWYYALVAMLIAGMIYKYIEYQGAEKEWGDGIRGLSLSAARYALLRLEEGPPHTKNWRPQLLVLLKLDEDLHVKYPRLLTFASQLKAGKGLTIVGSVIQGSFLESYGEAQAAEQ-------TIKNMM--EIEKVKGFCQVVVASKVREGLAHLIQSCGLGGMR-------------HNSVVLGWPYGWRQSEDPR---------------------------------------AWKTFIDTVRCTTAAHLALLVPK----------------------------------------------------------------------------------NIA-FYPS----------------NHERY--------------LEGHIDVW-------------WI-----------VHDGGMLML-LPFLLRQHKVWRKCRMRIFT-----------VAQMDDNSIQMKKDLAVFLYHLRLE-AEVEVVEMHNSDISAY-TYERTLMMEQRSQML--------RQMRLTKTERER-----------------------------------------EAQLVKDRHSALRLESLYSDEEDES---AVGADKIQMTWTRDKYMTETWD--PSHAPDNFRELVHIKP-----DQSNVRRMHTAVKLN------------EVIVTRSHDARLVLLNMPGPPRNSEGDENYMEFLEVLTEGL-ERVLLVRGGGREVITIYS-
SLC12A5   ----------------------------------------------MS------------------------------RRFTV------------------------------------TSLPPAGPARSPDPESR---------RHSVAD-PRHLP---------------------------------------GE-----DVKGDGNPKESS--------------PFINSTDTEKGK-----------------EYDGKNMALF------EEEMDT-------------------SPMVSSLLSGLANYT------------------NLPQGSREHEEAENNEGGKKKPVQAPRMGTFMGVYLPCLQNIFGVILFLRLTWVVGIAGIMESFCMVFICCSCTMLTAISMSAIATNGVVPAGGSYYMISRSLGPEFGGAVGLCFYLGTTFAGAMYILGTIEILLAYLFPAMAIFKAEDASGEAAAML----NNMRVY----------GTCVLTCMATVVFVGVKYVNKFALVFLGCVILSILAIYAGVIK---------------SAFDPPNFPICLLGNRTLSRHGFDVCAKLAWEGNETVTTRLWGLFCSSRFL-NATCDEYFTRNNVTEIQGIPGAASGLIKENLWSSYLTKGVIVERSGMTSVGLADGTPIDMDHPYVFSDMTSYFTLLVGIYFPSVTGIMAGSNRSGDLRDAQKSIPTGTILAIATTSAVYISSVVLFGACIEGVVLRDKFG---EAVNGNL---------------------------------VVGTLAWPSPWVIVIGSFFSTCGAGLQSLTGAPRLLQAISRDGIVPFLQVFGHG-KANGEPTWALLLTACICEIGILIASLDEVAPILSMFFLMCYMFVNLACAVQTLLR---TPNWRPRFRYYHWTLSFLGMSLCLALMFICSWYYALVAMLIAGLIYKYIEYRGAEKEWGDGIRGLSLSAARYALLRLEEGPPHTKNWRPQLLVLVRVDQDQNVVHPQLLSLTSQLKAGKGLTIVGSVLEGTFLENHPQAQRAEE-------SIRRLM--EAEKVKGFCQVVISSNLRDGVSHLIQSGGLGGLQ-------------HNTVLVGWPRNWRQKEDHQ---------------------------------------TWRNFIELVRETTAGHLALLVTK----------------------------------------------------------------------------------NVS-MFPG----------------NPERF--------------SEGSIDVW-------------WI-----------VHDGGMLML-LPFLLRHHKVWRKCKMRIFT-----------VAQMDDNSIQMKKDLTTFLYHLRIT-AEVEVVEMHESDISAY-TYEKTLVMEQRSQIL--------KQMHLTKNEREREIQSITDESRGSIRRKNPANTRLRLNVPEETAGDSEEKPEEEVQLIHDQSAPSCPSSSPSPGEEPEGEGETDPEKVHLTWTKDKSVAEKNKGPSPVSSEGIKDFFSMKPEWENLNQSNVRRMHTAVRLN------------EVIVKKSRDAKLVLLNMPGPPRNRNGDENYMEFLEVLTEHL-DRVMLVRGGGREVITIYS-
SLC12A6   ---------------------------------------------MHPPET---------------------TTKMASVRFMVTPTKI-------------------------------DDIPGLSDT-SPDLSSRSSSRVRFSSRESVPETSRSEPMSEMSGATTSLATVALDPPSDRTSHPQDVIEDLSQNSITGEHSQLLD-DGHKKARNA----------------YLNNSNYEEGD-----------------EYFDKNLALF------EEEMDT-------------------RPKVSSLLNRMANYT------------------NLTQGAKEHEEAENITEGKKKPTKTPQMGTFMGVYLPCLQNIFGVILFLRLTWVVGTAGVLQAFAIVLICCCCTMLTAISMSAIATNGVVPAGGSYFMISRALGPEFGGAVGLCFYLGTTFAAAMYILGAIEIFLVYIVPRAAIFHSDDALKESAAML----NNMRVY----------GTAFLVLMVLVVFIGVRYVNKFASLFLACVIVSILAIYAGAIK---------------SSFAPPHFPVCMLGNRTLSSRHIDVCSKTKEINNMTVPSKLWGFFCNSSQFFNATCDEYFVHNNVTSIQGIPGLASGIITENLWSNYLPKGEIIEK---PSAK-SSDVLGSLNHEYVLVDITTSFTLLVGIFFPSVTGIMAGSNRSGDLKDAQKSIPIGTILAILTTSFVYLSNVVLFGACIEGVVLRDKFG---DAVKGNL---------------------------------VVGTLSWPSPWVIVIGSFFSTCGAGLQSLTGAPRLLQAIAKDNIIPFLRVFGHS-KANGEPTWALLLTAAIAELGILIASLDLVAPILSMFFLMCYLFVNLACALQTLLR---TPNWRPRFRYYHWALSFMGMSICLALMFISSWYYAIVAMVIAGMIYKYIEYQGAEKEWGDGIRGLSLSAARFALLRLEEGPPHTKNWRPQLLVLLKLDEDLHVKHPRLLTFASQLKAGKGLTIVGSVIVGNFLENYGEALAAEQ-------TIKHLM--EAEKVKGFCQLVVAAKLREGISHLIQSCGLGGMK-------------HNTVVMGWPNGWRQSEDAR---------------------------------------AWKTFIGTVRVTTAAHLALLVAK----------------------------------------------------------------------------------NIS-FFPS----------------NVEQF--------------SEGNIDVW-------------WI-----------VHDGGMLML-LPFLLKQHKVWRKCSIRIFT-----------VAQLEDNSIQMKKDLATFLYHLRIE-AEVEVVEMHDSDISAY-TYERTLMMEQRSQML--------RHMRLSKTERDR-----------------------------------------EAQLVKDRNSMLRLTSIGSDEDEET---ETYQEKVHMTWTKDKYMASRGQ--KAKSMEGFQDLLNMRP-----DQSNVRRMHTAVKLN------------EVIVNKSHEAKLVLLNMPGPPRNPEGDENYMEFLEVLTEGL-ERVLLVRGGGSEVITIYS-
SLC12A7   ----------------------------------------------MP------------------------------TNFTVVPVEAHAD-------------------GGGDETAERTEAP--GTPEGPEPE-------------------RPSP-------------------------------------------------GDGNPRENS--------------PFLNNVEVEQES-----------------FFEGKNMALF------EEEMDS-------------------NPMVSSLLNKLANYT------------------NLSQGVVEHEE---DEESRRREAKAPRMGTFIGVYLPCLQNILGVILFLRLTWIVGVAGVLESFLIVAMCCTCTMLTAISMSAIATNGVVPAGGSYYMISRSLGPEFGGAVGLCFYLGTTFAGAMYILGTIEIFLTYISPGAAIFQAEAAGGEAAAML----HNMRVY----------GTCTLVLMALVVFVGVKYVNKLALVFLACVVLSILAIYAGVIK---------------SAFDPPDIPVCLLGNRTLSRRSFDACVKAYGIHNNSATSALWGLFCNGSQP-SAACDEYFIQNNVTEIQGIPGAASGVFLENLWSTYAHAGAFVEKKGVPSVPVAEESRASA-LPYVLTDIAASFTLLVGIYFPSVTGIMAGSNRSGDLKDAQKSIPTGTILAIVTTSFIYLSCIVLFGACIEGVVLRDKFG---EALQGNL---------------------------------VIGMLAWPSPWVIVIGSFFSTCGAGLQSLTGAPRLLQAIARDGIVPFLQVFGHG-KANGEPTWALLLTVLICETGILIASLDSVAPILSMFFLMCYLFVNLACAVQTLLR---TPNWRPRFKFYHWTLSFLGMSLCLALMFICSWYYALSAMLIAGCIYKYIEYRGAEKEWGDGIRGLSLNAARYALLRVEHGPPHTKNWRPQVLVMLNLDAEQAVKHPRLLSFTSQLKAGKGLTIVGSVLEGTYLDKHMEAQRAEE-------NIRSLM--STEKTKGFCQLVVSSSLRDGMSHLIQSAGLGGLK-------------HNTVLMAWPASWKQEDNPF---------------------------------------SWKNFVDTVRDTTAAHQALLVAK----------------------------------------------------------------------------------NVD-SFPQ----------------NQERF--------------GGGHIDVW-------------WI-----------VHDGGMLML-LPFLLRQHKVWRKCRMRIFT-----------VAQVDDNSIQMKKDLQMFLYHLRIS-AEVEVVEMVENDISAF-TYERTLMMEQRSQML--------KQMQLSKNEQER-----------------------------------------EAQLIHDRNTASHTAAAARTQAPPT------PDKVQMTWTREKLIAEKYRS-RDTSLSGFKDLFSMKP-----DQSNVRRMHTAVKLN------------GVVLNKSQDAQLVLLNMPGPPKNRQGDENYMEFLEVLTEGL-NRVLLVRGGGREVITIYS-
SLC12A8   -------------------------------------------------------------------------------MTQMSQVQE------------------------------------------------------------------------------------L---------------------------------FHEAAQQDALA----------------------------QPQ----------PWWKTQLFMW-------------------------------EPVL--------------------------------------------------------FGTWDGVFTSCMINIFGVVLFLRTGWLVGNTGVLLGMFLVSFVILVALVTVLSGIGVGERSSIGSGGVYSMISSVLGGQTGGTIGLLYVFGQCVAGAMYITGFAESISDLLGL----------------------GNIWAV-RGI------SVAVLLALLGINLAGVKWIIRLQLLLLFLLAVSTLDFVV-------------------GSFTHLDPE-----------------------------------------------------------HGFIGYSPELLQNNTLPDYS-----------PG---------------------ESFFTVFGVFFPAATGVMAGFNMGGDLREPAASIPLGSLAAVGISWFLYIVFVFLLGAI----CTREALR----------------------YDFL-----------------IAEKVSLMGF-LFLLGLYISSLASCMGGLYGAPRILQCIAQEKVIPALACLGQGKGPNKTPVAAICLTSLVTMAFVFVGQVNVLAPIVTINFMLTYVAVDYSYFSLSMCSCSLTPVPEPVLR--------------------------------------------------EGAEGLHCSEH----LLLEKAPSYGSE-GPAQRVLEGTLLEFTKDMDQLLQLTRKLESS--------------QPRQGEGNRTPE----------------SQKRKS----------KKATKQTLQDSFLLDLKSPPSFPVEISDRLPAASWEGQESCWNKQTSKS---------------------------------------------------------------------------------------------------------------------------EG-----------------------TQPE---------GTYGEQLVPELCNQSESSGEDFFLKSRLQEQDVWRRSTSFYTHMCNPWVSLL--------GAVGSLLIM---FVI----QW------VYTL------------------VNMGVAAIVYFYIGRAS-PGLHLG-----------SASNFSFFRWMRSLLL-------PSCRSLRSPQEQIIL--------------------------------------------------------------------------------------------------------------------APSLAKVDMEMT----------QLTQENADFA---------------------------TRDRYHHSSLV--NREQLMPHY--
SLC12A9   -----------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------MASESS-------------------------------------------------------------------------------------PLLA--YRLLGEEGVALP----------------ANG-AGGPGGASAR----------KLSTFLGVVVPTVLSMFSIVVFLRIGFVVGHAGLLQALAMLLVAYFILALTVLSVCAIATNGAVQGGGAYFMISRTLGPEVGGSIGLMFYLANVCGCAVSLLGLVESVLDVF----------------GADATGP-SGLRVLPQGYGWNLLYGSLLLGLVGGVCTLGAGLYARASFLTFLLVSGSLASVLISFVAVGPRDIRLTPRPGPNGSSLPPRF------------------------------------------------------------GHFTGFNSSTLKDNLGAGYA----------------EDYTTGAV----------MNFASVFAVLFNGCTGIMAGANMSGELKDPSRAIPLGTIVAVAYTFFVYVLL----------------------FFLSSF-TCD-RTLLQEDYGFFRA-------------------ISLWPP-LVLIGIYATALSASMSSLIGASRILHALARDDLFGVILAPAKVVSRGGNPWAAVLYSWGLVQLVLLAGKLNTLAAVVTVFYLVAYAAVDLSCLSLEWAS---APNFRPTFSLFSWHTCLLGVASCLLMMFLISPGAAGGSLLLMGLLAALLTARGGPSSWGYVSQALLFHQVRKYLLRLDVRKDHVKFWRPQLLLLVGNPR----GALPLLRLANQLKKG-GLYVLGHVTLGD-LDSLPSDPVQPQ-------YGAWLSLVDRAQVKAFVDLTLSPSVRQGAQHLLRISGLGGMK-------------PNTLVLGF---YDDAPPQDHFLTDPAFSEPADSTREGSSPALSTLFPPPRAPGSPRALNPQDYVATVADALKMNKNVVLARAS-----------------------------------------------------------------------------------------------------GALPPERLSRGSGGTSQLHH------VDVW-------------PLNLLRPRGGPGYVDVCGLFLLQMATILGMVPAWHSARLRIFLCLGPREAPGAAEGRLR-----------ALLSQLRI-------------------RAE----VQ---EVVWGEGAGAGEP----EAEEEGD--------------------------------------------------------------------FVNSGR-------GDAEAEALA----------------------------RSANALVRAQQGRGTGGGPGGPEGGDAEGPITALTFLYLPRPPADPARYPRYLALLETLTRDL-GPTLLVHGVTPVTCTDL--

Variant

check	gene name	residue number	Reference Amino Acid / Variant Amino Acid	minor allele frequency	rs number
--	SLC12A6	8	T/I	0.000104198	rs532035592
--	SLC12A6	32	R/W	0.00312957	rs150751809
--	SLC12A6	74	A/E	0.000100174	rs373526599
	SLC12A6	301	I/V	0.00011535	rs200110068
	SLC12A6	322	G/S	0.000186934	rs75235010
	SLC12A6	329	M/T	0.000163066	rs775696544
	SLC12A6	338	R/C	0.000445466	rs77122016
	SLC12A6	417	N/S	0.000250603	rs199945338
	SLC12A6	471	S/T	0.00583754	rs140916001
	SLC12A6	534	N/S	0.000620416	rs778821191
	SLC12A6	809	A/T	0.000131244	rs544675253

Phylogenetic tree

Pathway

Priority	Gene Name	Reactome (Gene)	Reactome (Pathway)
main	SLC12A6	SLC12A6 [plasma membrane]	Cation-coupled Chloride cotransporters

Disease

Gene Name	Reactome (Gene)	Reactome (Pathway)
SLC12A6	SLC12A6 T813fs*813 [plasma membrane]	Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN)
SLC12A6	SLC12A6 R1011* [plasma membrane]	Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN)
SLC12A6	SLC12A6 F529fs*532 [plasma membrane]	Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN)
SLC12A6	SLC12A6 R1134* [plasma membrane]	Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN)
SLC12A6	SLC12A6 R675* [plasma membrane]	Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN)