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Variant
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Disease

Detail Data SLC8A3


Basic description
Gene Name SLC8A3
Protein Name Sodium/calcium exchanger 3 (Na(+)/Ca(2+)-exchange protein 3) (Solute carrier family 8 member 3)
Family SLC8
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 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 
MAWLRLQPLT SAFLHFGLVT FVLFLNGLRA EAGGSGDVPS TGQNNESCSG SSDCKEGVIL PIWYPENPSL GDKIARVIVY FVALIYMFLG VSIIADRFMA SIEVITSQER EVTIKKPNGE TSTTTIRVWN ETVSNLTLMA LGSSAPEILL SLIEVCGHGF IAGDLGPSTI VGSAAFNMFI IIGICVYVIP DGETRKIKHL RVFFITAAWS IFAYIWLYMI LAVFSPGVVQ VWEGLLTLFF FPVCVLLAWV ADKRLLFYKY MHKKYRTDKH RGIIIETEGD HPKGIEMDGK MMNSHFLDGN LVPLEGKEVD ESRREMIRIL KDLKQKHPEK DLDQLVEMAN YYALSHQQKS RAFYRIQATR MMTGAGNILK KHAAEQAKKA SSMSEVHTDE PEDFISKVFF DPCSYQCLEN CGAVLLTVVR KGGDMSKTMY VDYKTEDGSA NAGADYEFTE GTVVLKPGET QKEFSVGIID DDIFEEDEHF FVRLSNVRIE EEQPEEGMPP AIFNSLPLPR AVLASPCVAT VTILDDDHAG IFTFECDTIH VSESIGVMEV KVLRTSGARG TVIVPFRTVE GTAKGGGEDF EDTYGELEFK NDETVKTIHI KVIDDEAYEK NKNYFIEMMG PRMVDMSFQK ALLLSPDRKL TMEEEEAKRI AEMGKPVLGE HPKLEVIIEE SYEFKTTVDK LIKKTNLALV VGTHSWRDQF MEAITVSAAG DEDEDESGEE RLPSCFDYVM HFLTVFWKVL FACVPPTEYC HGWACFAVSI LIIGMLTAII GDLASHFGCT IGLKDSVTAV VFVAFGTSVP DTFASKAAAL QDVYADASIG NVTGSNAVNV FLGIGLAWSV AAIYWALQGQ EFHVSAGTLA FSVTLFTIFA FVCISVLLYR RRPHLGGELG GPRGCKLATT WLFVSLWLLY ILFATLEAYC YIKGF 
CCCHHHHHHH HHHHHHHHHH HHHHHHHHHH HCCCCCCCCC CCCCCCCCCC CCCCCCCEEE ECCCCCCCCC CHHHHHHHHH HHHHHHHHHH HHHHHHHCCC HHHHHHHCEE EEEEECCCCC EEEEEEEECC HHHHHHHHHH HCCCCHHHHH HHHHHHCCCC CCCCCCCCHH CCHHHHHHCH HHHEEEEECC CCCCCCEEEC CCEEEHHHHH HHHHHHHHHH HHHCCCCEEE ECCHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHCCCCC CEEEEEECCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCHH HHHHHHHHHH HHHCCCCCCC CHHHHHHHHH HHHHHHHHHC CCCEEEHHHH HHCCCCCHHH HHHHHHHHHC CCCCCCCCCC CCCCCCCCCC CCCCHHCCCC CCCEEEEEEE ECCCCCCEEE EEEEECCCCC CCCCCEEECC EEEEECCCCE EEEEEEEEEE CCCCCCCCEE EEEEECCCCC CCCCCCCCCC CEECCCCCCC CCCCCCCCCE EEECCCCCCC CEEEEECEEE EEECCCEEEE EEEECCCCCC EEEEEEEEEC CCCCCCCCCC CCCCCEEEEC CCCCCEEEEE EECCCHHHHH HHCCEEECCC CCCCCCHHHH HHHCCCCCCC CCHHHHHHHH HHHCCCCCCC CCCCEEEECC CCCCCCCHHH CCCCCCCCCC CCCCCHHHCC CHHCCCCCCC CCCCCCCCCC CCCHHHHHHH HHHCCEEEEE EECCCCCCCC CHHHHHHHHH HHHHHHHHHH HHHHHHHHCC CCCCCCEEEE EEECCCCCHH HHHHHHHHHC CCCCCCCHHC CCCCHHHHHH HHHHHHHHHH HHHHHHHCCC EEEECCCHHH HHHHHHHHHH HHHHHHHHHH CCHHCCCCCC CCHHHHHHHH HHHHHHHHHH HHHHHHHHCC CCCCC 
                    
[Overview] SLC8A1 SLC8A2 SLC8A3 SLC8B1
SLC8A1    MYNMRRLSLSPTFSMGFHL-LVTVSLLFSHVDHVIAETEMEGEG---------------NETGE------------------CTG------SYYCK------------------KGV-------ILPIWEPQDPSFGDKIARATVYFVAMVYMFLGVSIIADRFMSSIEVITSQEKEITIKKPNGETTKTTVRIWNETVSNLTLMALGSSAPEILLSVIEVCGHNFTAGDLGPSTIVGSAAFNMFIIIALCVYVVPDGETRKIKHLRVFFVTAAWSIFAYTWLYII------LSVISPGVVEVWE-GLLTFFFFPICVVFAWVADRRLLFYKYVYKRYRAGKQRGMIIEHEGDRPSSKTEIEMDGKVVNSHVENFLDGALV--LEVDERDQDDEEARREMARILKELKQKHPDKEIEQLIELANYQVLSQQQKSRAFYRIQATRLMTGAGNILKRHAADQARKAVSMHEVNTEVTENDPVSKIFFEQGTYQCLENCGTVALTIIRRGGDLTNTVFVDFRTEDGTANAGSDYEFTEGTVVFK-PGDTQKEIRVGIIDDDIFEEDENFLVHLSNVKVSSEASEDGILEANHVS---TLACL---GSPSTATVTIFDDDHAGIFTFEEPVTHVSESIGIMEVKVLRTSGARGNVIVPYKTIEGTARGGGEDFEDTCGELEFQNDEIVKTISVKVIDDEEYEKNKTFFLEIGEPRLVEMSEKKALLLNELGGFTITGKYLFGQPVFRKVHAREHPILSTVITIADEYDDKQPLTSKEEEERRIAEMGRPILGEHTKLEVIIEESYEFKSTVDKLIKKTNLALVVGTNSWREQFIEAITVSAG-EDDDDDECGEEKLPSCFDYVMHFLTVFWKVLFAFVPPTEYWNGWACFIVSILMIGLLTAFIGDLASHFGCTIGLKDSVTAVVFVALGTSVPDTFASKVAATQDQYADASIGNVTGSNAVNVFLGIG------VAWSIAAIYHAANGEQFKVSPGTLAFSVTLFTIFAFINVGVLLYRRRPEIGGELGGPRTAKLLTSCLFVLLWLLYIFFSSLEAY--CHIKGF
SLC8A2    --------MAPLA-------LVGVTLLL-------AAPPCSGAATPTPSLPPPPANDSDTSTGG------------------CQG------SYRCQ------------------PGV-------LLPVWEPDDPSLGDKAARAVVYFVAMVYMFLGVSIIADRFMAAIEVITSKEKEITITKANGETSVGTVRIWNETVSNLTLMALGSSAPEILLSVIEVCGHNFQAGELGPGTIVGSAAFNMFVVIAVCIYVIPAGESRKIKHLRVFFVTASWSIFAYVWLYLI------LAVFSPGVVQVWE-ALLTLVFFPVCVVFAWMADKRLLFYKYVYKRYRTDPRSGIIIGAEGDPPKS---IELDGTFVGAEAPGELGGLGPGPAEARELD----ASRREVIQILKDLKQKHPDKDLEQLVGIANYYALLHQQKSRAFYRIQATRLMTGAGNVLRRHAADASRRAAPAEGAGED--EDDGASRIFFEPSLYHCLENCGSVLLSVTCQGGEGNSTFYVDYRTEDGSAKAGSDYEYSEGTLVFK-PGETQKELRIGIIDDDIFEEDEHFFVRLLNLRVGDAQ---GMFEPDGGG--RPKGRL---VAPLLATVTILDDDHAGIFSFQDRLLHVSECMGTVDVRVVRSSGARGTVRLPYRTVDGTARGGGVHYEDACGELEFGDDETMKTLQVKIVDDEEYEKKDNFFIELGQPQWLKRGI-SALLLNQ----------------------------------GD--GDRK-LTAEEEEARRIAEMGKPVLGENCRLEVIIEESYDFKNTVDKLIKKTNLALVIGTHSWREQFLEAITVSAGDEEEEEDGSREERLPSCFDYVMHFLTVFWKVLFACVPPTEYCHGWACFGVSILVIGLLTALIGDLASHFGCTVGLKDSVNAVVFVALGTSIPDTFASKVAALQDQCADASIGNVTGSNAVNVFLGLG------VAWSVAAVYWAVQGRPFEVRTGTLAFSVTLFTVFAFVGIAVLLYRRRPHIGGELGGPRGPKLATTALFLGLWLLYILFASLEAY--CHIRGF
SLC8A3    ---MAWLRLQPLTSAFLHFGLVTFVLFLNGLR---AEAGGSGDV---------------PSTGQN----------NE----SCSG------SSDCK------------------EGV-------ILPIWYPENPSLGDKIARVIVYFVALIYMFLGVSIIADRFMASIEVITSQEREVTIKKPNGETSTTTIRVWNETVSNLTLMALGSSAPEILLSLIEVCGHGFIAGDLGPSTIVGSAAFNMFIIIGICVYVIPDGETRKIKHLRVFFITAAWSIFAYIWLYMI------LAVFSPGVVQVWE-GLLTLFFFPVCVLLAWVADKRLLFYKYMHKKYRTDKHRGIIIETEGDHPKG---IEMDGKMMNSH---FLDGNLV-PLEGKEVD----ESRREMIRILKDLKQKHPEKDLDQLVEMANYYALSHQQKSRAFYRIQATRMMTGAGNILKKHAAEQAKKASSMSEVHTDEPE-DFISKVFFDPCSYQCLENCGAVLLTVVRKGGDMSKTMYVDYKTEDGSANAGADYEFTEGTVVLK-PGETQKEFSVGIIDDDIFEEDEHFFVRLSNVRIEEEQPEEGMPPAIFNSLPLPRAVL---ASPCVATVTILDDDHAGIFTFECDTIHVSESIGVMEVKVLRTSGARGTVIVPFRTVEGTAKGGGEDFEDTYGELEFKNDETVKTIHIKVIDDEAYEKNKNYFIEMMGPRMVDMSFQKALLLS---------------------------------------PDRK-LTMEEEEAKRIAEMGKPVLGEHPKLEVIIEESYEFKTTVDKLIKKTNLALVVGTHSWRDQFMEAITVSAA-GDEDEDESGEERLPSCFDYVMHFLTVFWKVLFACVPPTEYCHGWACFAVSILIIGMLTAIIGDLASHFGCTIGLKDSVTAVVFVAFGTSVPDTFASKAAALQDVYADASIGNVTGSNAVNVFLGIG------LAWSVAAIYWALQGQEFHVSAGTLAFSVTLFTIFAFVCISVLLYRRRPHLGGELGGPRGCKLATTWLFVSLWLLYILFATLEAY--CYIKGF
SLC8B1    ---MAGRRLN------LRWALSVLCVLL-------MAETVSGTR--------------GSSTGAHISPQFPASGVNQTPVVDCRKVCGLNVSDRCDFIRTNPDCHSDGGYLDYLEGIFCHFPPSLLPL-------------AVTLYVSWLLYLFLILGVTAAKFFC----------------PNLSAISTTLKL-SHNVAGVTFLAFGNGAPDIFSALVAFSDPH-TAG-LALGALFGAGVLVTTVVAGGITILHP-------------FMAASRPFFRDIVFYMVAVFLTFLMLFRGRVTLAWALGYLGLYVFYVVTV---------ILCTWIYQRQRR-------------------------------------GSLFCPMPV-------------TPEILSDSEE-------DRVSSNTNSYDYGDEYRPLFFYQETTAQILVRALNPLD------------------------------------------------------------YMKWRRKSA---------YWKALKVFKLPVEFLLLLTVPVVDPD--KDDQNW--------------------------KRPLNCLHLVISPLVV-----------VLTLQSGTYGVYEIGGLVPVWVV-------------VVIAGTA-----------------------------------------------------------------------------------------------------------------------------------------------------------------------LASVTFFAT-SDSQ---------PPRLHWLFAFLGFLTSALWINAAATE-------------VVNILRSL--------GVVFRLSNTVLGLTLLAWGNSIGDAFSDFTLARQG-YPRMAFSACFGGIIFNILVGVGLGCLLQISRSHTEVKLEPDGLLVWVLAGALGLSL----VFSLVSVPLQCFQLSRVYG--------------FCLLLFYLNFLVVALLTEFGVIHLKSM

                    

Variant
check gene name residue number Reference Amino Acid / Variant Amino Acid minor allele frequency rs number
-- SLC8A3 111 E/G 0.000103459 rs148347484
-- SLC8A3 117 P/S 0.00019498 rs199679805
-- SLC8A3 188 V/M 0.000274797 rs200355498
-- SLC8A3 191 D/G 0.000541578 rs79418648
-- SLC8A3 270 H/Y 0.000111385 rs199891724
-- SLC8A3 271 R/Q 0.000107397 rs148642634
-- SLC8A3 285 I/V 0.000131287 rs143972110
-- SLC8A3 314 R/G 0.00866479 rs34816272
-- SLC8A3 355 R/H 0.00058912 rs141396102
-- SLC8A3 355 R/L 0.000632906 rs141396102
-- SLC8A3 417 T/I 0.000143285 rs200677601
-- SLC8A3 419 V/M 0.000692377 rs149163250
-- SLC8A3 441 N/S 0.00152805 rs146498093
-- SLC8A3 488 R/C 0.000497564 rs149204532
-- SLC8A3 489 I/M 0.000107456 rs145341145
-- SLC8A3 577 G/S 0.0143308 rs41286548
-- SLC8A3 622 R/H 0.00250277 rs77756572
-- SLC8A3 639 K/R 0.000170171 rs150612155
-- SLC8A3 770 I/T 0.000390081 rs147788335
-- SLC8A3 790 V/I 0.00011949 rs764676267
-- SLC8A3 793 V/M 0.000665551 rs144289733
-- SLC8A3 819 I/V 0.00221458 rs150876389
-- SLC8A3 829 N/S 0.000159541 rs199965464
-- SLC8A3 851 E/D 0.00137972 rs36097312

Phylogenetic tree


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