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Variant
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Pathway
Disease

Detail Data SLC24A3


Basic description
Gene Name SLC24A3
Protein Name Sodium/potassium/calcium exchanger 3 (Na(+)/K(+)/Ca(2+)-exchange protein 3) (Solute carrier family 24 member 3)
Family SLC24
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 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 
MRPSGDEDRA RRRRRRRRRR DLLLSQLCFL ASVALLLWSL SSLREQKELD LMDLVGEDRK WMMARKLMQV NDTLTSEDAG LRNSKNCTEP ALHEFPNDIF TNEDRRQGAV VLHVLCAIYM FYALAIVCDD FFVPSLEKIC ERLHLSEDVA GATFMAAGSS APELFTSVIG VFITKGDVGV GTIVGSAVFN ILCIIGVCGL FAGQVVALSS WCLLRDSIYY TLSVIALIVF IYDEKVSWWE SLVLVLMYLI YIVIMKYNAC IHQCFERRTK GAGNMVNGLA NNAEIDDSSN CDATVVLLKK ANFHRKASVI MVDELLSAYP HQLSFSEAGL RIMITSHFPP KTRLSMASRM LINERQRLIN SRAYTNGESE VAIKIPIKHT VENGTGPSSA PDRGVNGTRR DDVVAEAGNE TENENEDNEN DEEEEEDEDD DEGPYTPFDT PSGKLETVKW AFTWPLSFVL YFTVPNCNKP RWEKWFMVTF ASSTLWIAAF SYMMVWMVTI IGYTLGIPDV IMGITFLAAG TSVPDCMASL IVARQGMGDM AVSNSIGSNV FDILIGLGLP WALQTLAVDY GSYIRLNSRG LIYSVGLLLA SVFVTVFGVH LNKWQLDKKL GCGCLLLYGV FLCFSIMTEF NVFTFVNLPM CGDH 
CCCCCCCCCC CCCCCCCCHH HHHHHHHHHH HHHHHHHHHH HCCCCCCCCC CHHHCCCCHH HHHHHHHHHC CCCCCCCCHH CCCCCCCCCH HHHCCCCCCC CCCCCCCHHH HHHHHHHHHH HHHHHHHHHH HCCCHHHHHH HHCCCCHHHH HCHHHHHHCC CHHHHHHHHH HHCCCCCCHH HHHHHHHHHH HHHHHHHHHH HCCHHHHCCH HHHHHHHHHH HHHHHHHHHH HCCCCEEHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHC CCCCCCCCCC CCCCCCCCCC CCCCHHHHHH HCCCCCCEEE EHHHHHHCCC CCCCCCCCCH HHHHHCCCCC CCCCCCHHHH HHHHHHHHHH HHCCCCCCCC CEECCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCHHHHHHH HHHHHHHHHH HHCCCCCCCC HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHCCCCHH HHHHHHHHHH CCCHHHHHHH HHHHCCCCCH HHHCCCHHHH HHHHHHHCHH HHHHHHCCCC CCCCCCCCHH HHHHHHHHHH HHHHHHHHHH HCCCCCCHHH HHHHHHHHHH HHHHHHHHHC CCCCCCCCCC CCCC
[Overview] SLC24A1 SLC24A2 SLC24A3 SLC24A4 SLC24A5 
SLC24A1   --MGKLIRMGPQERWLLRTK----RLHWS-----RLLFLLGMLIIGSTYQHLRRPRGLSSLWAAVSSHQPIKLASRDLSSEEMMMMSSSPSKPSSEMGGKMLVPQASVGSDEATLSMTVENIPSMPKRTAKMIPTTTKNNYSPTAAGTERRKEDTPTSSRTLTYYTSTSSRQIVKKYTPTPRGEMKSYSPTQVREKVKYTPSPRGRRVGTYVPSTFMTMETSHAITPRTTVK-DSDITATYKILETNSLKRIMEETTPTTLKGMFDSTPTFLTHEVEANVLTSPRSVMEKNNLFPPRRVESNSSAHPWGLVGKSNPKTPQGTVLLHTPATSEGQVTISTMTGSSPAETKAFTAAWSLRNPSPRTSVSAIKTAPAIVWRLAKKPSTAPSTSTTPTVRAKLTMQVHHCVVVKPTPAMLTTPSPSLTTALLPEELSPSPSVLPPSLPDLHPKGEYPPDLFSVEERRQGWVVLHVFGMMYVFVALAIVCDEYFVPALGVITDKLQISEDVAGATFMAAGGSAPELFTSLIGVFISHSNVGIGTIVGSAVFNILFVIGTCSLFSREILNLTWWPLFRDVSFYILDLIMLILFFLDSLIAWWESLLLLLAYAFYVFTMKWNKHIEVWVKEQLS--------------------------RRPVAKVMALEDLSKPGDG---AIAVDELQDNKKLKLPS--LLTRGSSSTSLHNSTIRSTIYQLMLHSLDPLREV--RLAKEKEEESLNQGARAQPQAKAESKPEEEEPAKLPAVTVTPAPVPDIKGDQKENPGGQEDVAEAESTGEMPGEEGETAGEGETEEKSGGETQPEGEGETETQGKGEECE-DENEAEGKGDNEGEDEGEIHAEDGEMKGNEGETESQELSAENHGEAKNDEKGVEDGGGS------------------DGGDSEEEEEEEEEQEEEEEEEEQEEEEEEEEEEEEKGNEEPLSLDWPETRQKQAIYLFLLPIVFPLWLTVPDVRRQESRKFFVFTFLGSIMWIAMFSYLMVWWAHQVGETIGISEEIMGLTILAAGTSIPDLITSVIVARKGLGDMAVSSSVGSNIFDITVGLPVPWLLFSL-INGLQPVPVSSNGLFCAIVLLFLMLLFVISSIASCKWRMNKILGFTMFLLYFVFLIISVMLEDRIIS------CPVSV
SLC24A2   MDLQQSTTITSLEKWCLDESLSGCRRHYSVKKKLKLIRVLGLFM------------GLVAI---------------------------------------------------STVSFSI--------------------------------------SAFSETDTQSTGEASVVS-----------------------------GPRV-------------AQGYHQRTLLD-LND-----KIL---------------------DYTPQ------------------------PP----------------------------------------------------------------------------------LSKEGESENSTD--------------------------------------------------------HAQGDYPKDIFSLEERRKGAIILHVIGMIYMFIALAIVCDEFFVPSLTVITEKLGISDDVAGATFMAAGGSAPELFTSLIGVFIAHSNVGIGTIVGSAVFNILFVIGMCALFSREILNLTWWPLFRDVSFYIVDLIMLIIFFLDNVIMWWESLLLLTAYFCYVVFMKFNVQVEKWVKQMIN--------------------------RNKVVKVTAPEAQAKP----------SAARDKDEPTLPAKPRLQRGGSSASLHNSLMRNSIFQLMIHTLDPLAEELGSYGKLKYYDTMTEEGRFREKASILHK-----------------------------------IAK------------------------------------------KKCHVDENERQNGAAN--------HVEKIELP-NSTSTDVEMTPSSDASEP------VQNGNLSHN---------------IEGAEAQTADEEE---------------------------DQPLSLAWPSETRKQVTFLIVFPIVFPLWITLPDVRKPSSRKFFPITFFGSITWIAVFSYLMVWWAHQVGETIGISEEIMGLTILAAGTSIPDLITSVIVARKGLGDMAVSSSVGSNIFDITVGLPLPWLLYTV-IHRFQPVAVSSNGLFCAIVLLFIMLLFVILSIALCKWRMNKILGFIMFGLYFVFLVVSVLLEDRILT------CPVSI
SLC24A3   ------MRPSGDEDRARR------RRRRR-RRRDLLLSQLCFLA--------------------------------------------------------------------SVALLLW--------------------------------------SLSSL---REQKELDLMD-------------------------------LV----------GEDRKWMMARKLMQ-VND------------------------------------------------------------------------------------------------------TLT--------------------------------------SEDAGLRNSKN---------------CTE--------------------------------------PALHEFPNDIFTNEDRRQGAVVLHVLCAIYMFYALAIVCDDFFVPSLEKICERLHLSEDVAGATFMAAGSSAPELFTSVIGVFITKGDVGVGTIVGSAVFNILCIIGVCGLFAGQVVALSSWCLLRDSIYYTLSVIALIVFIYDEKVSWWESLVLVLMYLIYIVIMKYNACIHQCFERRTKGAGNMVNGLANNAEID------DSSNCDATVVLL----KKANFHRKASVIMVDE-------------LLSAYPHQLSFSEAGLR----IMITSHFPP-----------------------KTRLSMASR-----------MLI-------------------------------------------------------------------------NERQRLINSRAY--------------TNGESEVAIKIPIKHT--------VENGTGPSSAPDRGVNGTRRDDVVAEAGNETENENEDNENDEEEE----------EDEDDDEGPYTPFDT--PSGKLETVKWAFTWPLSFVLYFTVPNCNKPRWEKWFMVTFASSTLWIAAFSYMMVWMVTIIGYTLGIPDVIMGITFLAAGTSVPDCMASLIVARQGMGDMAVSNSIGSNVFDILIGLGLPWALQTLAVDYGSYIRLNSRGLIYSVGLLLASVFVTVFGVHLNKWQLDKKLGCGCLLLYGVFLCFSIMTEFNVFTFVNLPMCGDH-
SLC24A4   MALRGTLRP----------------LKVR-RRREMLPQQVGFVC--------------------------------------------------------------------AVLALVC--------------------------------------CASGLFGSLGHKTASASK-------------------------------RV----------LPD-TW-RNRKLMAPVNG------------------------------------------------------------------------------------------------------TQT----------------------------------------------AKN---------------CTD--------------------------------------PAIHEFPTDLFSNKERQHGAVLLHILGALYMFYALAIVCDDFFVPSLEKICERLHLSEDVAGATFMAAGSSTPELFASVIGVFITHGDVGVGTIVGSAVFNILCIIGVCGLFAGQVVRLTWWAVCRDSVYYTISVIVLIVFIYDEQIVWWEGLVLIILYVFYILIMKYNVKMQAFFTVKQK---SIANGNPVNSELEAGNDFYDGSYDDPSVPLLG-QVKEKPQYGKNPVVMVDE-------------IMSSSPPKFTFPEAGLR----IMITNKFGP-----------------------RTRLRMASR-----------III-------------------------------------------------------------------------NERQRLINS-----------------ANGVSSKPLQNGRHEN--------IENGNVPVENP------------------------EDPQQNQEQQPPPQ--PPPPEPEPVEADFLSPFSV--PEARGDKVKWVFTWPLIFLLCVTIPNCSKPRWEKFFMVTFITATLWIAVFSYIMVWLVTIIGYTLGIPDVIMGITFLAAGTSVPDCMASLIVARQGLGDMAVSNTIGSNVFDILVGLGVPWGLQTMVVNYGSTVKINSRGLVYSVVLLLGSVALTVLGIHLNKWRLDRKLGVYVLVLYAIFLCFSIMIEFNVFTFVNLPMCREDD
SLC24A5   ------MQTKGGQTWA---------------RRALL---LGILW--------------------------------------------------------------------ATAHLPL--------------------------------------SGTSL----------------------------------------------------------------PQRLPR-------------------------------------------------------------------------------------------------------------------------------------------------------ATGNSTQ---------------CVI--------------------------------------SPSSEFPEGFFTRQERRDGGIIIYFLIIVYMFMAISIVCDEYFLPSLEIISESLGLSQDVAGTTFMAAGSSAPELVTAFLGVFITKGDIGISTILGSAIYNLLGICAACGLLSNTVSTLSCWPLFRDCAAYTISAAAVLGIIYDNQVYWYEGALLLLIYGLYVLVLCFDIKINQYIIKKCSPCCACLAKAMERSEQQ---------------PLMGWEDEGQPFIRRQ----------------------SRTDSGIFYEDSGY--------------------------------------SQLSIS-------------------------------------------------------------------------------------------------------------------LHGLSQVS---------------------------------------------------ED---------------PP-----------SVFNM--PEADLKRIFWVLSLPIITLLFLTTPDCRKKFWKNYFVITFFMSAIWISAFTYILVWMVTITGETLEIPDTVMGLTLLAAGTSIPDTIASVLVARKGKGDMAMSNIVGSNVFDMLC-LGIPWFIKTAFINGSAPAEVNSRGLTYITISLNISIIFLFLAVHFNGWKLDRKLGIVCLLSYLGLATLSVLYELGIIGNNKIRGCGG--

Variant
check gene name residue number Reference Amino Acid / Variant Amino Acid minor allele frequency rs number
-- SLC24A3 6 D/N 0.000109457 rs757542722
-- SLC24A3 8 D/G 0.000525486 rs577960314
-- SLC24A3 39 S/W 0.000698718 rs545353094
-- SLC24A3 49 L/P 0.0202583 rs3790174
-- SLC24A3 55 V/I 0.440245 rs1569767
-- SLC24A3 79 A/V 0.0121725 rs34507363
-- SLC24A3 82 R/W 0.000151168 rs150292821
-- SLC24A3 168 V/I 0.0404583 rs3790267
-- SLC24A3 217 S/C 0.00182254 rs147680736
-- SLC24A3 249 L/V 0.00272889 rs148897045
-- SLC24A3 273 G/R 0.000246537 rs144722474
-- SLC24A3 276 V/I 0.000747557 rs138584821
-- SLC24A3 305 R/H 0.000251034 rs150240114
-- SLC24A3 372 A/T 0.000111478 rs535316839
-- SLC24A3 381 V/M 0.00651686 rs76270899
-- SLC24A3 395 V/M 0.000405654 rs199569984
-- SLC24A3 399 R/W 0.000330096 rs200832045
-- SLC24A3 399 R/Q 0.000465312 rs75574349
-- SLC24A3 443 G/D 0.00011849 rs574653374
-- SLC24A3 575 R/Q 0.000250593 rs369467895
-- SLC24A3 585 V/I 0.00103391 rs150848944
-- SLC24A3 598 G/S 0.000558503 rs142611512
-- SLC24A3 619 G/A 0.000453367 rs201313154

Phylogenetic tree

Pathway
Priority Gene Name Reactome (Gene) Reactome (Pathway)
main SLC24A3 SLC24A3 [plasma membrane] Sodium/Calcium exchangers

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