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Basic
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Structure
Seq./Align.
Variant
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Pathway
Disease

Detail Data SLC12A4


Basic description
Gene Name SLC12A4
Protein Name Solute carrier family 12 member 4 (Electroneutral potassium-chloride cotransporter 1) (Erythroid K-Cl cotransporter 1) (hKCC1)
Family SLC12
Category Transport of inorganic cations/anions and amino acids/oligopeptides
Reaction name -
Reaction -

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 1 0 4 0 1 0 5 0 1 0 6 0 1 0 7 0 1 0 8 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       1040       1050       1060       1070       1080 
MPHFTVVPVD GPRRGDYDNL EGLSWVDYGE RAELDDSDGH GNHRESSPFL SPLEASRGID YYDRNLALFE EELDIRPKVS SLLGKLVSYT NLTQGAKEHE EAESGEGTRR RAAEAPSMGT LMGVYLPCLQ NIFGVILFLR LTWMVGTAGV LQALLIVLIC CCCTLLTAIS MSAIATNGVV PAGGSYFMIS RSLGPEFGGA VGLCFYLGTT FAAAMYILGA IEILLTYIAP PAAIFYPSGA HDTSNATLNN MRVYGTIFLT FMTLVVFVGV KYVNKFASLF LACVIISILS IYAGGIKSIF DPPVFPVCML GNRTLSRDQF DICAKTAVVD NETVATQLWS FFCHSPNLTT DSCDPYFMLN NVTEIPGIPG AAAGVLQENL WSAYLEKGDI VEKHGLPSAD APSLKESLPL YVVADIATSF TVLVGIFFPS VTGIMAGSNR SGDLRDAQKS IPVGTILAII TTSLVYFSSV VLFGACIEGV VLRDKYGDGV SRNLVVGTLA WPSPWVIVIG SFFSTCGAGL QSLTGAPRLL QAIAKDNIIP FLRVFGHGKV NGEPTWALLL TALIAELGIL IASLDMVAPI LSMFFLMCYL FVNLACAVQT LLRTPNWRPR FKYYHWALSF LGMSLCLALM FVSSWYYALV AMLIAGMIYK YIEYQGAEKE WGDGIRGLSL SAARYALLRL EEGPPHTKNW RPQLLVLLKL DEDLHVKYPR LLTFASQLKA GKGLTIVGSV IQGSFLESYG EAQAAEQTIK NMMEIEKVKG FCQVVVASKV REGLAHLIQS CGLGGMRHNS VVLGWPYGWR QSEDPRAWKT FIDTVRCTTA AHLALLVPKN IAFYPSNHER YLEGHIDVWW IVHDGGMLML LPFLLRQHKV WRKCRMRIFT VAQMDDNSIQ MKKDLAVFLY HLRLEAEVEV VEMHNSDISA YTYERTLMME QRSQMLRQMR LTKTEREREA QLVKDRHSAL RLESLYSDEE DESAVGADKI QMTWTRDKYM TETWDPSHAP DNFRELVHIK PDQSNVRRMH TAVKLNEVIV TRSHDARLVL LNMPGPPRNS EGDENYMEFL EVLTEGLERV LLVRGGGREV ITIYS 
CCCEEEECCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC HHCCCHHHHC CCCCCCCCHH HHHHHHHHHC CCCCCCCCHH HHCCCCCCCC CCCCCCCCCE EECCCCCHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHCCCC CCCCCCCCHH CCCCCCCHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHCCC CCCEEECCCC CCCCCCCCCC HHHHHHHHHH HHHHHHHCCH HHHHHHHHHH HHHHHHHHHH HHHCCHHHHC CCCCCCCCCC CCCEECCCCC CCCCCCEEEC CCCCCCCCEE EECCCCCCCC CCCCHHHCCC CCEEECCCCC CHHHHHHHHH HHHHHHCCCC CCCCCCCCCC CCCHHHCCCC CCHHHHHHHH HHHHHHHCCC CCCCCCCCCC CCCHHCCCCC CCCCCEEEEH HCCHHHHHHH HHHCCCCHHH HHHCCCCCCC CCCHHHHHHH CCCCHHEEHH HHHHHHHHHH HHHHHHHHHH HHHHHCCCCE EEHHCCCCCC CCCCHHHHHH HHHHHHHHHH HHHHCCHHHH HHHHHHHHHH HHHHHHHHHH HHCCCCCCCC CCCCHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHCCCCCC CCCCHHHHHH HHHHHHHHHH HCCCCCCCCC CCHHHHHHHH CCCCCCCCHH HHHHHHHHHC CCCCEEEEEE ECCCHHHCHH HHHHHHHHHH HHHHHCCCCC EEEEEEECCH HHHHHHHHHH CCCCCCCCCC CCCCCCCCCC CCCCHHHHHH HHHHHHHHHH HHHHHCCCCC CCCCCCCHHH HHCCCCCEEE ECCCHHHHHH HHHHHHHHHC HHHCCCCCEE CCCCCCCHHH HHHHHHHHHH CCCCCCCEEE ECCCCCCCHH HHHHHHHHHH HHHHHHHHHC CCCCHHHHHH HHHHCCHHCC CCCCCCCCCC CHHCCCCCCC CCCCCCHHHH HCCCCCCCCC CCCCCCEECC CCCCHHHHHH HHHHHCCHHH HCCCCCEEEH HCCCCCCCCC CCHHHHHHHH HHHHCCCCCE EEEECCCCEE EEEEC
[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
-- SLC12A4 3 A/G 0.000509398 rs577204120
-- SLC12A4 4 E/G 0.153983 rs3785100
-- SLC12A4 13 G/R 0.000558943 rs563719406
-- SLC12A4 31 R/H 0.000493262 rs536788449
-- SLC12A4 56 G/V 0.000483173 rs147343289
-- SLC12A4 65 A/T 0.000493262 rs536788449
-- SLC12A4 110 R/W 0.000507245 rs148092003
-- SLC12A4 110 R/Q 0.0108622 rs61738598
SLC12A4 162 C/Y 0.00048981 rs201392236
SLC12A4 304 V/M 0.000175162 rs200445347
SLC12A4 349 T/M 0.000183053 rs140443524
SLC12A4 370 G/R 0.000280505 rs555617206
SLC12A4 382 S/G 0.000115931 rs763176939
SLC12A4 409 P/L 0.000123382 rs201454764
SLC12A4 420 F/S 0.000322452 rs748605909
SLC12A4 422 V/M 0.00136976 rs143746556
SLC12A4 569 I/T 0.00249276 rs62059925
SLC12A4 576 M/I 0.000109478 rs779662615
SLC12A4 674 R/C 0.000109684 rs150773539
SLC12A4 679 R/Q 0.00014602 rs139995395
SLC12A4 702 E/K 0.000127062 rs141986035
SLC12A4 754 R/Q 0.000205349 rs537218937
SLC12A4 754 R/W 0.000124847 rs551137238
SLC12A4 761 S/L 0.000184001 rs760527523
SLC12A4 771 R/Q 0.000103858 rs561625189
SLC12A4 775 A/T 0.000103565 rs142605989
SLC12A4 806 R/H 0.000708691 rs200889153
SLC12A4 806 R/C 0.000159547 rs372127326
SLC12A4 819 T/M 0.000124847 rs551137238
SLC12A4 840 R/H 0.000103565 rs142605989
-- SLC12A4 946 R/W 0.000131694 rs145509604
-- SLC12A4 961 R/Q 0.000179236 rs142683701
-- SLC12A4 964 S/N 0.000103518 rs779137613
-- SLC12A4 1001 D/Y 0.00017938 rs751326359
SLC12A4 1069 R/Q 0.00031618 rs146713633

Phylogenetic tree

Pathway
Priority Gene Name Reactome (Gene) Reactome (Pathway)
main SLC12A4 SLC12A4 [plasma membrane] Cation-coupled Chloride cotransporters

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