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Variant
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Pathway
Disease

Detail Data SLC24A2


Basic description
Gene Name SLC24A2
Protein Name Sodium/potassium/calcium exchanger 2 (Na(+)/K(+)/Ca(2+)-exchange protein 2) (Retinal cone Na-Ca+K exchanger) (Solute carrier family 24 member 2)
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 6 5 0 6 6 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 
MDLQQSTTIT SLEKWCLDES LSGCRRHYSV KKKLKLIRVL GLFMGLVAIS TVSFSISAFS ETDTQSTGEA SVVSGPRVAQ GYHQRTLLDL NDKILDYTPQ PPLSKEGESE NSTDHAQGDY PKDIFSLEER RKGAIILHVI GMIYMFIALA IVCDEFFVPS LTVITEKLGI SDDVAGATFM AAGGSAPELF TSLIGVFIAH SNVGIGTIVG SAVFNILFVI GMCALFSREI LNLTWWPLFR DVSFYIVDLI MLIIFFLDNV IMWWESLLLL TAYFCYVVFM KFNVQVEKWV KQMINRNKVV KVTAPEAQAK PSAARDKDEP TLPAKPRLQR GGSSASLHNS LMRNSIFQLM IHTLDPLAEE LGSYGKLKYY DTMTEEGRFR EKASILHKIA KKKCHVDENE RQNGAANHVE KIELPNSTST DVEMTPSSDA SEPVQNGNLS HNIEGAEAQT ADEEEDQPLS LAWPSETRKQ VTFLIVFPIV FPLWITLPDV RKPSSRKFFP ITFFGSITWI AVFSYLMVWW AHQVGETIGI SEEIMGLTIL AAGTSIPDLI TSVIVARKGL GDMAVSSSVG SNIFDITVGL PLPWLLYTVI HRFQPVAVSS NGLFCAIVLL FIMLLFVILS IALCKWRMNK ILGFIMFGLY FVFLVVSVLL EDRILTCPVS I 
CCCCCCCCHH HHHHHHCCCC CCCCCHHCCH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHC CCCCCCCCCC EEECCCCHHC CCCCCCHHHH CCCEEEECCC CCCCCCCCCC CCCHHHHCCC CCCCCCHHHH HCCHHHHHHH HHHHHHHHHH HHHHHCCCHH HHHHHHHHCC CHHHHHHHHH HHHCCHHHHH HHHHHHHCCC CHHHHHHHHH HHHHHHHHHH HHHHHHCCCC CCCCCCCHHH HHHHHHHHHH HHHHHHCCCC CCCHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHCCCCC CCCCHHHCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCH HHHHHHHHHH HHHHCHHHHH HCCCCCCCCC CCCCCCCCCC CCCHHCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCHHHH HHHHHHHHHH HHHHCCCCCC CCCCCCCCHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHCC CHHHHHHHHH HHHCCHHHHH HHHHHHHCCC CHHHHHCHHH HHHHHHHHHC CHHHHHHHHH CCCCCEECCC HHHHHHHHHH HHHHHHHHHH HHCCCCCCCH HHHHHHHHHH HHHHHHHHHH HCCCCCCCCC C
[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
-- SLC24A2 10 T/I 0.000160594 rs774196694
-- SLC24A2 33 K/R 0.000329758 rs113482298
-- SLC24A2 93 K/R 0.000266461 rs61745274
-- SLC24A2 199 A/T 0.000107428 rs139419786
-- SLC24A2 282 F/C 0.00381801 rs41313971
-- SLC24A2 284 V/I 0.000966441 rs147283325
-- SLC24A2 296 R/C 0.000914687 rs79471093
-- SLC24A2 468 R/H 0.000238608 rs145624570
-- SLC24A2 601 N/S 0.00281902 rs61745273
-- SLC24A2 654 I/F 0.000553661 rs150269980
-- SLC24A2 659 V/I 0.000107696 rs138630242

Phylogenetic tree

Pathway
Priority Gene Name Reactome (Gene) Reactome (Pathway)
main SLC24A2 SLC24A2(59-661) [plasma membrane] Sodium/Calcium exchangers

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