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Structure
Seq./Align.
Variant
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Disease

Detail Data SLC12A3


Basic description
Gene Name SLC12A3
Protein Name Solute carrier family 12 member 3 (Na-Cl cotransporter) (NCC) (Na-Cl symporter) (Thiazide-sensitive sodium-chloride cotransporter)
Family SLC12
Category Transport of inorganic cations/anions and amino acids/oligopeptides
Reaction name SLC12A3 cotransports Cl-, Na+ from extracellular region to cytosol
Reaction 1 Cl- [extracellular region] + 1 Na+ [extracellular region] --> 1 Na+ [cytosol] + 1 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 6 2 0 6 3 0 6 4 0 6 5 0 6 6 0 6 7 0 6 8 0 6 9 0 7 0 0 7 1 0 7 2 0 7 3 0 7 4 0 7 5 0 7 6 0 7 7 0 7 8 0 7 9 0 8 0 0 8 1 0 8 2 0 8 3 0 8 4 0 8 5 0 8 6 0 8 7 0 8 8 0 8 9 0 9 0 0 9 1 0 9 2 0 9 3 0 9 4 0 9 5 0 9 6 0 9 7 0 9 8 0 9 9 0 1 0 0 0 1 0 1 0 1 0 2 0 1 0 3 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        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 
MAELPTTETP GDATLCSGRF TISTLLSSDE PSPPAAYDSS HPSHLTHSST FCMRTFGYNT IDVVPTYEHY ANSTQPGEPR KVRPTLADLH SFLKQEGRHL HALAFDSRPS HEMTDGLVEG EAGTSSEKNP EEPVRFGWVK GVMIRCMLNI WGVILYLRLP WITAQAGIVL TWIIILLSVT VTSITGLSIS AISTNGKVKS GGTYFLISRS LGPELGGSIG LIFAFANAVG VAMHTVGFAE TVRDLLQEYG APIVDPINDI RIIGVVSVTV LLAISLAGME WESKAQVLFF LVIMVSFANY LVGTLIPPSE DKASKGFFSY RADIFVQNLV PDWRGPDGTF FGMFSIFFPS ATGILAGANI SGDLKDPAIA IPKGTLMAIF WTTISYLAIS ATIGSCVVRD ASGVLNDTVT PGWGACEGLA CSYGWNFTEC TQQHSCHYGL INYYQTMSMV SGFAPLITAG IFGATLSSAL ACLVSAAKVF QCLCEDQLYP LIGFFGKGYG KNKEPVRGYL LAYAIAVAFI IIAELNTIAP IISNFFLCSY ALINFSCFHA SITNSPGWRP SFQYYNKWAA LFGAIISVVI MFLLTWWAAL IAIGVVLFLL LYVIYKKPEV NWGSSVQAGS YNLALSYSVG LNEVEDHIKN YRPQCLVLTG PPNFRPALVD FVGTFTRNLS LMICGHVLIG PHKQRMPELQ LIANGHTKWL NKRKIKAFYS DVIAEDLRRG VQILMQAAGL GRMKPNILVV GFKKNWQSAH PATVEDYIGI LHDAFDFNYG VCVMRMREGL NVSKMMQAHI NPVFDPAEDG KEASARGARP SVSGALDPKA LVKEEQATTI FQSEQGKKTI DIYWLFDDGG LTLLIPYLLG RKRRWSKCKI RVFVGGQINR MDQERKAIIS LLSKFRLGFH EVHILPDINQ NPRAEHTKRF EDMIAPFRLN DGFKDEATVN EMRRDCPWKI SDEEITKNRV KSLRQVRLNE IVLDYSRDAA LIVITLPIGR KGKCPSSLYM AWLETLSQDL RPPVILIRGN QENVLTFYCQ  
CCCCCCCCCC CCCCCCCCCC EEECCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCHHHHH HHHHHHCCCH HHCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCH HHCCHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HEEECCCCCC CCCEEECCCC CCCCCCCHHH HHHHHHHHHH HHHHHHCHHH HHHHHHHHCC CCCCCCCCCC HHHHHHHHHH HHHHHHHCCC HHHHHHHHHH HHHHHHHHHH HHCCCCCCCC CCCCCCCEEC CCCCCCCCCC CCCCCCCCCC CCCEEEECCC CCCEECCCCC CCCCCCCCCC CCCCCCCEEH HHHHHHHHHH HHHHHHHHHH CCCCCCCCCC CCCCCCCCCC CCCCCCCHHH CHHCCCCCCH HHHHHHHHHH HCCCCCCHHH HHHHHHHHHH HHHHHHHHHH HHHHHHCCHH HHHHHHCCCC CCCHHHHHHH HHHHHHHHHH HHHCCCCCCC HHHHHHHHHH HHHHHHHHHH HHCCCCCCCC HHHHHHHHHH HHHHHHHHHH HHHHCHHHHH HHHHHHHHHH HHHHHCCCCC CCCCCCHHHH HHHHHHHHHC CCCCCHHHHH CCCCCEEECC CCCCCCCHHH HHHHHHCCCE EEEEEEEECC CHHCCCHHHH HHHHHHHHHH HHCCCCEEEE EEECCCHHHH HHHHHHHHCC CCCCCCEEEE CCCCCCCCCC HHHHHHHHHH HHHHHHCCCE EEEEECCCCC CHHHHHHHEE CCCCCCCCCC CCCCCCCCCC CCCCCCCCCH HCCCCCCCHH HCCCCCCCEE EEEEEECCCH HHHHHHHHHC CCCCHHCCEE EEEECCCCCC HHHHHHHHHH HHHHHHCCCC EEEECCCCCC CCCHHHHHHH HHHHHHHHHC CCCCCHHHHH HHHHCCCCCC CCHHHHHHHC CCCCCCCHHH HHHHHCCCCC EEEECCCCCC CCCCCHHHHH HHHHHHHCCC CCCEEEEECC CCEEEEEEEC
[Overview] SLC12A1 SLC12A2 SLC12A3 SLC12A4 SLC12A5 SLC12A6 SLC12A7 SLC12A8 SLC12A9 
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
-- SLC12A3 13 A/P 0.000650958 rs147200024
-- SLC12A3 27 S/R 0.000401929 rs201850644
-- SLC12A3 54 R/H 0.0001034 rs373163077
-- SLC12A3 108 R/W 0.000103898 rs541789117
-- SLC12A3 108 R/Q 0.00017169 rs768537535
-- SLC12A3 121 E/D 0.000927162 rs146632606
-- SLC12A3 141 G/A 0.000138903 rs146854174
-- SLC12A3 145 R/H 0.000147527 rs374324018
-- SLC12A3 180 T/M 0.000119336 rs146158333
-- SLC12A3 180 T/K 0.000274472 rs146158333
-- SLC12A3 232 A/T 0.000266699 rs201318038
-- SLC12A3 261 R/C 0.000127262 rs201124663
-- SLC12A3 264 A/G 0.978183 rs1529927
-- SLC12A3 310 E/K 0.00108597 rs146834675
-- SLC12A3 404 V/I 0.000497169 rs150358489
-- SLC12A3 417 E/K 0.000119728 rs368455032
-- SLC12A3 426 N/D 0.000161662 rs200817545
-- SLC12A3 439 G/S 0.000163465 rs759377924
-- SLC12A3 454 A/V 0.000143332 rs368783800
-- SLC12A3 485 E/K 0.000336657 rs201804135
-- SLC12A3 507 R/H 0.000150498 rs147864812
-- SLC12A3 515 I/V 0.00118894 rs554432544
-- SLC12A3 521 I/V 0.000543664 rs147046379
-- SLC12A3 550 A/T 0.000194853 rs563131364
-- SLC12A3 566 N/K 0.000489852 rs757776621
-- SLC12A3 569 A/V 0.000119439 rs79351185
-- SLC12A3 570 A/V 0.000234876 rs201130736
-- SLC12A3 578 V/M 0.000648777 rs139329616
-- SLC12A3 622 N/S 0.00477073 rs61746763
-- SLC12A3 656 P/L 0.000135412 rs140363569
-- SLC12A3 695 G/R 0.00124217 rs36031476
-- SLC12A3 714 A/V 0.000103481 rs369272221
-- SLC12A3 728 A/T 0.0121195 rs36049418
-- SLC12A3 741 G/R 0.000370079 rs138977195
-- SLC12A3 751 P/L 0.000107493 rs368068353
-- SLC12A3 758 I/T 0.000199083 rs61730207
-- SLC12A3 833 S/T 0.000398308 rs146845953
-- SLC12A3 859 L/P 0.000115478 rs121909379
-- SLC12A3 900 H/R 0.000341959 rs745597855
-- SLC12A3 913 R/Q 0.108647 rs11643718
-- SLC12A3 928 R/C 0.0310616 rs12708965
-- SLC12A3 944 R/W 0.000178978 rs56125220
-- SLC12A3 964 R/Q 0.000151098 rs202114767
-- SLC12A3 977 R/Q 0.000163037 rs186979818
-- SLC12A3 986 L/S 0.000127578 rs201696394
-- SLC12A3 994 C/Y 0.000202951 rs199849117

Phylogenetic tree

Pathway
Priority Gene Name Reactome (Gene) Reactome (Pathway)
main SLC12A3 SLC12A3 [plasma membrane] Cation-coupled Chloride cotransporters

Disease
Gene Name Reactome (Gene) Reactome (Pathway)
SLC12A3 SLC12A3 T392I [plasma membrane] Defective SLC12A3 causes Gitelman syndrome (GS)
SLC12A3 SLC12A3 E121D [plasma membrane] Defective SLC12A3 causes Gitelman syndrome (GS)
SLC12A3 SLC12A3 T60M [plasma membrane] Defective SLC12A3 causes Gitelman syndrome (GS)
SLC12A3 SLC12A3 L850P [plasma membrane] Defective SLC12A3 causes Gitelman syndrome (GS)
SLC12A3 SLC12A3 L272P [plasma membrane] Defective SLC12A3 causes Gitelman syndrome (GS)
SLC12A3 SLC12A3 G741R [plasma membrane] Defective SLC12A3 causes Gitelman syndrome (GS)