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Variant
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Detail Data SLC24A4


Basic description
Gene Name SLC24A4
Protein Name Sodium/potassium/calcium exchanger 4 (Na(+)/K(+)/Ca(2+)-exchange protein 4) (Solute carrier family 24 member 4)
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 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 
MALRGTLRPL KVRRRREMLP QQVGFVCAVL ALVCCASGLF GSLGHKTASA SKRVLPDTWR NRKLMAPVNG TQTAKNCTDP AIHEFPTDLF SNKERQHGAV LLHILGALYM FYALAIVCDD FFVPSLEKIC ERLHLSEDVA GATFMAAGSS TPELFASVIG VFITHGDVGV GTIVGSAVFN ILCIIGVCGL FAGQVVRLTW WAVCRDSVYY TISVIVLIVF IYDEQIVWWE GLVLIILYVF YILIMKYNVK MQAFFTVKQK SIANGNPVNS ELEAGNDFYD GSYDDPSVPL LGQVKEKPQY GKNPVVMVDE IMSSSPPKFT FPEAGLRIMI TNKFGPRTRL RMASRIIINE RQRLINSANG VSSKPLQNGR HENIENGNVP VENPEDPQQN QEQQPPPQPP PPEPEPVEAD FLSPFSVPEA RGDKVKWVFT WPLIFLLCVT IPNCSKPRWE KFFMVTFITA TLWIAVFSYI MVWLVTIIGY TLGIPDVIMG ITFLAAGTSV PDCMASLIVA RQGLGDMAVS NTIGSNVFDI LVGLGVPWGL QTMVVNYGST VKINSRGLVY SVVLLLGSVA LTVLGIHLNK WRLDRKLGVY VLVLYAIFLC FSIMIEFNVF TFVNLPMCRE DD 
CCCEEEECCC CCCCCCCCHH HHHHHHHHHH HHHHHHHHHH CCCCHHHHHC HHHHHHHHHH HHHHHCHHCC CHHCCCCCCC CHHHCCCCCC CCCHHHHHHH HHHHHHHHHH HHHHHHHHHH HCCCHHHHHH HHHCCCHHHH HHHHHHHHCC CHHHHHHHHH HHCCCCCCHH HHHHHHHHHH HHHHHHHHHH HCCCCHHCCH HHHHHHHHHH HHHHHHHHHH HCCCCHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHCCC CCCCCCCCCC CHHCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCEEECH HHCCCCCCCC CCCCCHHHHH HCCCCCHHHH HHHHHHHHHH HHHHHCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCHHHHHHHC CCCCCCCCCC CCCCCCCHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHCCCHHHHH HHHCCCCCCH HHHHHHHHHH HCCCCHHHHH CCCCHHHHHH HHHCCHHHHH HHHHCCCCCC CCCCCHHHHH HHHHHHHHHH HHHHHHHHCC CCCCHHHHHH HHHHHHHHHH HHHHHHCCCC CCCCCCCCCC CC
[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
-- SLC24A4 7 L/P 0.000158945 rs780908617
-- SLC24A4 29 V/M 0.000114112 rs536359091
-- SLC24A4 78 T/A 0.00117203 rs150573991
-- SLC24A4 116 I/V 0.000194856 rs773717582
-- SLC24A4 158 V/A 0.000530189 rs75348968
-- SLC24A4 254 F/L 0.000314238 rs149544741
-- SLC24A4 260 K/E 0.000373829 rs540053008
-- SLC24A4 288 V/M 0.000206876 rs141240818
-- SLC24A4 300 Y/C 0.00176263 rs139572787
-- SLC24A4 346 I/V 0.00016015 rs377308586
-- SLC24A4 362 S/N 0.0236525 rs62623445
-- SLC24A4 378 N/K 0.000401638 rs143075344
-- SLC24A4 448 R/H 0.000155131 rs149298860
-- SLC24A4 454 E/K 0.468211 rs11623883
-- SLC24A4 458 G/R 0.17373 rs78254567
-- SLC24A4 510 A/V 0.00165737 rs142889151
-- SLC24A4 543 M/T 0.000103479 rs200401376
-- SLC24A4 552 K/Q 0.0601962 rs45587635
-- SLC24A4 574 L/F 0.000818069 rs549720657
-- SLC24A4 585 R/Q 0.000987245 rs77441273
-- SLC24A4 603 I/V 0.00017108 rs142019261
-- SLC24A4 613 V/I 0.00886097 rs4900130

Phylogenetic tree

Pathway
Priority Gene Name Reactome (Gene) Reactome (Pathway)
main SLC24A4 SLC24A4 [plasma membrane] Sodium/Calcium exchangers

Disease
Gene Name Reactome (Gene) Reactome (Pathway)
SLC24A4 SLC24A4 S499C [plasma membrane] Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI)
SLC24A4 SLC24A4 R339* [plasma membrane] Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI)
SLC24A4 SLC24A4 A146V [plasma membrane] Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI)