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Disease |
Detail Data SLC26A2
Basic description
Gene Name | SLC26A2 |
---|---|
Protein Name | Sulfate transporter (Diastrophic dysplasia protein) (Solute carrier family 26 member 2) |
Family | SLC26 |
Category | Transport of inorganic cations/anions and amino acids/oligopeptides |
Reaction name | - |
Reaction | - |
[Overview]
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 MSSESKEQHN VSPRDSAEGN DSYPSGIHLE LQRESSTDFK QFETNDQCRP YHRILIERQE KSDTNFKEFV IKKLQKNCQC SPAKAKNMIL GFLPVLQWLP KYDLKKNILG DVMSGLIVGI LLVPQSIAYS LLAGQEPVYG LYTSFFASII YFLLGTSRHI SVGIFGVLCL MIGETVDREL QKAGYDNAHS APSLGMVSNG STLLNHTSDR ICDKSCYAIM VGSTVTFIAG VYQVAMGFFQ VGFVSVYLSD ALLSGFVTGA SFTILTSQAK YLLGLNLPRT NGVGSLITTW IHVFRNIHKT NLCDLITSLL CLLVLLPTKE LNEHFKSKLK APIPIELVVV VAATLASHFG KLHENYNSSI AGHIPTGFMP PKVPEWNLIP SVAVDAIAIS IIGFAITVSL SEMFAKKHGY TVKANQEMYA IGFCNIIPSF FHCFTTSAAL AKTLVKESTG CHTQLSGVVT ALVLLLVLLV IAPLFYSLQK SVLGVITIVN LRGALRKFRD LPKMWSISRM DTVIWFVTML SSALLSTEIG LLVGVCFSIF CVILRTQKPK SSLLGLVEES EVFESVSAYK NLQIKPGIKI FRFVAPLYYI NKECFKSALY KQTVNPILIK VAWKKAAKRK IKEKVVTLGG IQDEMSVQLS HDPLELHTIV IDCSAIQFLD TAGIHTLKEV RRDYEAIGIQ VLLAQCNPTV RDSLTNGEYC KKEEENLLFY SVYEAMAFAE VSKNQKGVCV PNGLSLSSD CCHHHHHCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCHHHH HHHHHHHCCC CHHHHHHHHH HHCCHHHHHC CCCHHHHHHH HHHHHHHHHH HHHHHHHHHH HHCCCCHHHH HHHHHHHHHH HHHHHCCCCC CHHHHHHHHH HHHHHHHHHH HHCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCHHHHHH HHHHHHHHHH HHHHHHHHHH CHHHHHHCCH HHHHHHHHHH HHHHHHHHHH HHHCCCCCCC CCCHHHHHHH HHHHHCCCCC CHHHHHHHHH HHHHHHHHHH HCHHHHHCCC CCHHHHHHHH HHHHHHHHHH HHHHHCCCCC CCCCCCCCCC CCCCCHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHCC CCCCCHHHHH HHHHHHHHHH CCCCCHHCHH HHHHHHHHCC CCCHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHCHHH HHHHHCCCHH HHHHHHHHHH HHHHHCCHHH HHHHHHHHHH HHHHHHHCCC EEECEECCCC CCEECHHHHC CCCCCCCEEE EEECCCCCCH HHHHHHHHHH HHHCCCHHHH HHHHHHHHHH HHHHHCCCCC CCHHHHHHCC CCCCCCCEEE EECEECCCCC HHHHHHHHHH HHHHHHCCCE EEEECCCHHH HHHHHCCCCC CCCCCCCEEC CHHHHHHHHH HHHHCCCCCC CCCCCCCCC
[Overview]
SLC26A1 --------MDESPEPLQQGRGPVP--------------------------------VRRQRPAPRGLRE------------------MLKARLWCSCSCSVLCVRALVQDLLPATRWLRQYRPREYLAGDVMSGLVIGIILVPQAIAYSLLAG--LQPIYSLYTSFFANLIYFLMGTSRHVSVGIFSLLC-LMVGQVV------------DRELQLAGFDPSQDGLQPG--ANSSTL--------NGSAAMLDCGRDCYAIRVATALTLMTGLYQVLMGVLRLGFVSAYLSQPLLDGFAMGASVTILTSQLKHLLGVRIPRHQGPGMVVLTWLSLLRGAGQANVCDVVTS---TVCLAVLLAA---KELSDRYRHRLRVPLPT---------------ELLVIVVATLVSHFGQLHKRFGSSVAGDIPTGFMPPQVPEPRLMQRVALDAVA------------LALVAAAFSISLAEMFARSHGYSVRANQELLAVGCCNVLPAFLHCFATSAALAKSLVKTATGCRTQLSSVVSATVVLLVLLALAPLFHDLQRSVLACVIVVSLRGALRKVWDLPRLWRMSPADALVWAGTAATCMLVSTEAGLLAGVILSLLSLAGRTQRPRTALLARIGDTAFYEDATEFEGLVPEPGVRVFRFGGPLYYANKDFFLQSLYSLTGLD-----AGCMAARRKEGGSE----------------------------------------------------------------------------------TGVGEGGPAQGEDLG----------------PVSTRAALVPAAA-----------GFHTVVIDCAPLLFLDAAGVSTLQDLRRDYGA----LGISLLLACCSPPVRDILSRGGFLGEGPGDTAEEEQLFLSVHDAVQTARARHR---ELE------------------ATDAHL----------------------------------------------------------------------------------------------------------------------------------------------- SLC26A10 -----------------------------------MRLDL-------------ASLMSAPKSLGSAFKS-WRLDKAPSPQHT-----------------------------FPSTS-IP-------------------------GMAFALLAS--VPPVFGLYTSFFPVLIYSLLGTGRHLSTGTFAILS-LMTG----SAVERLVPE-----------------PLVG-----------------NLSGIEKEQLDAQRVGVAAAVAFGSGALMLGMFVLQLGVLSTFLSEPVVKALTSGAALHVLLSQLPSLLGLSLPRQIGCFSLFKTLASLLTALPRSSPAELTIS---ALSLALLVPV---KELNVRFRDRLPTPIPG---------------EVVLVLLASVLCFTSSVDTRYQVQIVGLLPGGFPQPLLPNLAELPRILADSLP------------IALVSFAVSASLASIHADKYSYTIDSNQEFLAHGASNLISSLFSCFPNSATLATTNLLVDAGGKTQLAGLFSCTVVLSVLLWLGPFFYYLPKAVLACINISSMRQVFCQMQELPQLWHISRVDFLL-----------------------------------------------------------QVPGLCILSYPTPLYFGTRGQFRCNLEWHLGLGE---------------GEK----------------------------------------------------------------------------------ETSKPDG------------------------PMVAVAE-----------------PVRVVVLDFSGVTFADAAGAREVVQVRERLASRCRDARIRLLLAQCNALVQGTLTRVGLL-----DRVTPDQLFVSVQDAAAYALGSLLRGSSTRS--GSQEALGCGK---------------------------------------------------------------------------------------------------------------------------------------------------------- SLC26A11 ----------------------MPSS---------------------------VTALGQARSSGPGMAP-------------------------SACCCSPA----ALQRRLPILAWLPSYSL-QWLKMDFVAGLSVGLTAIPQALAYAEVAG--LPPQYGLYSAFMGCFVYFFLGTSRDVTLGPTAIMS-LLVSFYT-----------------------FHE---------------PAY---------------------AVLLAFLSGCIQLAMGVLRLGFLLDFISYPVIKGFTSAAAVTIGFGQIKNLLGLQ----NIPRPFFLQVYHTFLRIAETRVGDAVLG---LVCMLLLLVL---KLMRDHVPPVHPEMPPGVRLSRGLVWAATTARNALVVSFAALVAYSFEVTGYQPFILTGETAEGLPPVRIPPFSVTTANGTISFTEMVQDMGAGLAVVPLMGLLESIAVAKAFASQNNYRIDANQELLAIGLTNMLGSLVSSYPVTGSFGRTAVNAQSGVCTPAGGLVTGVLVLLSLDYLTSLFYYIPKSALAAVIIMAVAPLF-DTKIFRTLWRVKRLDLLPLCVTFLLC-FWEVQYGILAGALVSLLMLLHSAARPETKV--------------------SEGPVLVLQPASGLSFPAMEALREEILSRA-------------------------------------------------------------------------------------------------------------------------------------------------------LEVSPP----RCLVLECTHVCSIDYTVVLGLGELLQDFQK----QGVALAFVGLQVPVLRVLLSA--------D-LKGFQYFSTLEEAEKHLRQEPG---------------------TQPYNIREDSILDQKVALLKA----------------------------------------------------------------------------------------------------------------------------------- SLC26A2 MSSESKEQHNVSPRDSAEGNDSYPSGIHLELQRESS-TDFKQFETNDQCRPYHRILIERQEKSDTNFKE------------------FVIKKLQKNCQCSPAKAKNMILGFLPVLQWLPKYDLKKNILGDVMSGLIVGILLVPQSIAYSLLAG--QEPVYGLYTSFFASIIYFLLGTSRHISVGIFGVLC-LMIGETV------------DRELQKAGYDNAHSAPSLGMVSNGSTL--------LNHTSDRICDKSCYAIMVGSTVTFIAGVYQVAMGFFQVGFVSVYLSDALLSGFVTGASFTILTSQAKYLLGLNLPRTNGVGSLITTWIHVFRNIHKTNLCDLITS---LLCLLVLLPT---KELNEHFKSKLKAPIPI---------------ELVVVVAATLASHFGKLHENYNSSIAGHIPTGFMPPKVPEWNLIPSVAVDAIA------------ISIIGFAITVSLSEMFAKKHGYTVKANQEMYAIGFCNIIPSFFHCFTTSAALAKTLVKESTGCHTQLSGVVTALVLLLVLLVIAPLFYSLQKSVLGVITIVNLRGALRKFRDLPKMWSISRMDTVIWFVTMLSSALLSTEIGLLVGVCFSIFCVILRTQKPKSSLLGLVEESEVFESVSAYKNLQIKPGIKIFRFVAPLYYINKECFKSALYKQTVNPILIKVAWKKAAKRKI--KE----------------------------------------------------------------------------------KVVTLGG-IQDE--------------------MSVQLSHDPLE-------------LHTIVIDCSAIQFLDTAGIHTLKEVRRDYEA----IGIQVLLAQCNPTVRDSLTNGEYCKK-----EEENLLFYSVYEAMAFAEVSKN---QKGVCVPN---------GLSLSSD-------------------------------------------------------------------------------------------------------------------------------------------------- SLC26A3 ---------------MIEPFGN-------------------------------QYIVARPVYSTNAFEE--NHKKTGRHH------KTFLDHLKVCCSCSPQKAKRIVLSLFPIASWLPAYRLKEWLLSDIVSGISTGIVAVLQGLAFALLVD--IPPVYGLYASFFPAIIYLFFGTSRHISVGPFPILS-MMVGLAVSGAVSKAVP---DR--------------------NATTLGLPN--NSNNSSLLD---DERVRVAAAASVTVLSGIIQLAFGILRIGFVVIYLSESLISGFTTAAAVHVLVSQLKFIFQLTVPSHTDPVSIFKVLYSVFSQIEKTNIADLVTA---LIVLLVVSIV---KEINQRFKDKLPVPIPI---------------EFIMTVIAAGVSYGCDFKNRFKVAVVGDMNPGFQPPITPDVETFQNTVGDCFG------------IAMVAFAVAFSVASVYSLKYDYPLDGNQELIALGLGNIVCGVFRGFAGSTALSRSAVQESTGGKTQIAGLIGAIIVLIVVLAIGFLLAPLQKSVLAALALGNLKGMLMQFAEIGRLWRKDKYDCLIWIMTFIFTIVLGLGLGLAASVAFQLLTIVFRTQFPKCSTLANIGRTNIYKNKKDYYDMYEPEGVKIFRCPSPIYFANIGFFRRKLIDAVGFSPLRILRKRNKALRKI--RK-----------------------------LQK-------QGLLQ---VTPKGFI---CTVDTI--KDSDEELDNN-------QIEVLDQPINTTDLPFHIDWNDDL-------PL---------------NIEVPKISLHSLILDFSAVSFLDVSSVRGLKSILQEFIR----IKVDVYIVGTDDDFIEKLNRYEFF-DGE---VKSSIFFLTIHDAVLHILMKKDYSTSKFN--PSQEKDGKIDFTINTNGGLRNRVYEVPVE----------------------TKF-------------------------------------------------------------------------------------------------------------- SLC26A4 ---------------MAAPGGRSEP---PQLPEYSC-----------------SYMVSRPVYSELAFQQ--QHERRLQER------KTLRESLAKCCSCSRKRAFGVLKTLVPILEWLPKYRVKEWLLSDVISGVSTGLVATLQGMAYALLAA--VPVGYGLYSAFFPILTYFIFGTSRHISVGPFPVVS-LMVG----SVVLSMAP---DEHFLVSS-------------SNGTVL---------NTTMIDTAARDTARVLIASALTLLVGIIQLIFGGLQIGFIVRYLADPLVGGFTTAAAFQVLVSQLKIVLNVSTKNYNGVLSIIYTLVEIFQNIGDTNLADFTAG---LLTIVVCMAV---KELNDRFRHKIPVPIPI---------------EVIVTIIATAISYGANLEKNYNAGIVKSIPRGFLPPELPPVSLFSEMLAASFS------------IAVVAYAIAVSVGKVYATKYDYTIDGNQEFIAFGISNIFSGFFSCFVATTALSRTAVQESTGGKTQVAGIISAAIVMIAILALGKLLEPLQKSVLAAVVIANLKGMFMQLCDIPRLWRQNKIDAVIWVFTCIVSIILGLDLGLLAGLIFGLLTVVLRVQFPSWNGLGSIPSTDIYKSTKNYKNIEEPQGVKILRFSSPIFYGNVDGFKKCIKSTVGFDAIRVYNKRLKALRKI--QK-----------------------------LIK-------SGQLR---ATKNGIISDAVSTNNA--FEPDEDIED---------LEELDIP--TKEIEIQVDWNSEL-------PV---------------KVNVPKVPIHSLVLDCGAISFLDVVGVRSLRVIVKEFQR----IDVNVYFASLQDYVIEKLEQCGFF-DDN---IRKDTFFLTVHDAILYLQNQVK----------SQEGQGSILETITLIQDCKDTL-EL-IE----------------------TELTEE-----------ELDVQDEAM-----------RTLAS----------------------------------------------------------------------- SLC26A5 -------------MDHAEEN---------EILAATQ-----------------RYYVERPIFSHPVLQE--------RLHTKDKVPDSIADKLKQAFTCTPKKIRNIIYMFLPITKWLPAYKFKEYVLGDLVSGISTGVLQLPQGLAFAMLAA--VPPIFGLYSSFYPVIMYCFLGTSRHISIGPFAVIS-LMIG----GVAVRLVP---DDIVIPGG-------------VNATNG---------------TEARDALRVKVAMSVTLLSGIIQFCLGVCRFGFVAIYLTEPLVRGFTTAAAVHVFTSMLKYLFGVKTKRYSGIFSVVYSTVAVLQNVKNLNVCSL------GVGLMVFGLLLGGKEFNERFKEKLPAPIPL---------------EFFAVVMGTGISAGFNLKESYNVDVVGTLPLGLLPPANPDTSLFHLVYVDAIA------------IAIVGFSVTISMAKTLANKHGYQVDGNQELIALGLCNSIGSLFQTFSISCSLSRSLVQEGTGGKTQLAGCLASLMILLVILATGFLFESLPQAVLSAIVIVNLKGMFMQFSDLPFFWRTSKIELTIWLTTFVSSLFLGLDYGLITAVIIALLTVIYRTQSPSYKVLGKLPETDVYIDIDAYEEVKEIPGIKIFQINAPIYYANSDLYSNALKRKTGVNPAVIMGARRKAMRKY--AK-----------------------------------------------------------------EVGNANMANA-------TVVKADAEVDGEDATKPEEEDGEVK----YPPIVIKST-FPEEM---QRFMPPGDNVHTVILDFTQVNFIDSVGVKTLAGIVKEYGD----VGIYVYLAGCSAQVVNDLTRNRFF-ENP---ALWELLFHSIHDAVLGSQLREALAEQEASAPPSQE------------DLEPNATPATPEA--------------------------------------------------------------------------------------------------------------------------------------- SLC26A6 -------------MGLADASGPRDT---QALLSATQAMDL----------RRRDYHMERPLLNQEHLEELGRWGSAPRTH-----------QWRTWLQCSRARAYALLLQHLPVLVWLPRYPVRDWLLGDLLSGLSVAIMQLPQGLAYALLAG--LPPVFGLYSSFYPVFIYFLFGTSRHISVGTFAVMS-VMVG----SVTESLAPQALNDSMI-----------------NET-------------------ARDAARVQVASTLSVLVGLFQVGLGLIHFGFVVTYLSEPLVRGYTTAAAVQVFVSQLKYVFGLHLSSHSGPLSLIYTVLEVCWKLPQSKVGTVVTAAVAGVVLVVVKLL------NDKLQQQLPMPIPG---------------ELLTLIGATGISYGMGLKHRFEVDVVGNIPAGLVPPVAPNTQLFSKLVGSAFT------------IAVVGFAIAISLGKIFALRHGYRVDSNQELVALGLSNLIGGIFQCFPVSCSMSRSLVQESTGGNSQVAGAISSLFILLIIVKLGELFHDLPKAVLAAIIIVNLKGMLRQLSDMRSLWKANRADLLIWLVTFTATILLNLDLGLVVAVIFSLLLVVVRTQMPHYSVLGQVPDTDIYRDVAEYSEAKEVRGVKVFRSSATVYFANAEFYSDALKQRCGVDVDFLISQKKKLLKKQ--EQL------------------------KLKQLQK-------EEKLRKQAASPKGASVS-INVNTSLEDMRSNNVEDC-------KMMQVSSGDKMEDATANGQEDS-------------KAP-DGSTL---KALGLPQPDFHSLILDLGALSFVDTVCLKSLKNIFHDFRE----IEVEVYMAACHSPVVSQLEAGHFF-DAS---ITKKHLFASVHDAV-------TFALQ-----------------------HPRPVPDSPVSV---------------------TRL-------------------------------------------------------------------------------------------------------------- SLC26A7 -------------------------------------------------------MTGAKRKKKSMLWS--------KMH------TPQCEDIIQWCR-----------RRLPILDWAPHYNLKENLLPDTVSGIMLAVQQVTQGLAFAVLSS--VHPVFGLYGSLFPAIIYAIFGMGHHVATGTFALTS-LISA----NAVERIVPQN---------------------MQNLTTQ--------SNTSVLGLSDFEMQRIHVAAAVSFLGGVIQVAMFVLQLGSATFVVTEPVISAMTTGAATHVVTSQVKYLLGMKMPYISGPLGFFYIYAYVFENIKSVRLEALLLS---LLSIVVLVLV---KELNEQFKRKIKVVLPV---------------DLVLIIAASFACYCTNMENTYGLEVVGHIPQGIPSPRAPPMNILSAVITEAFG------------VALVGYVASLALAQGSAKKFKYSIDDNQEFLAHGLSNIVSSFFFCIPSAAAMGRTAGLYSTGAKTQVACLISCIFVLIVIYAIGPLLYWLPMCVLASIIVVGLKGMLIQFRDLKKYWNVDKIDWGIWVSTYVFTICFAANVGLLFGVVCTIAIVIGR--FPRAMTVSIKNMKEMEFKVKTEMDSETLQQVKIISINNPLVFLNAKKFYTDLMNMI--------------------QK----------------------------------------------------------------ENACNQPLDDISKCEQNTLLNSLSNGNCNEEASQSCPNEKCY-----------------------------------LILDCSGFTFFDYSGVSMLVEVYMDCKG----RSVDVLLAHCTASLIKAMTYYGNL-----D-SEKPIFFESVSAAISHIHSNKN---------------------LSKLSDHSEV---------------------------------------------------------------------------------------------------------------------------------------------- SLC26A8 ---------------MAQLERSAISG----FSSKSRRNSF-------------AYDVKREVYNEETFQQ--EHKRKASSSGNMNI-NITTFRHHVQCRCSWHRFLRCVLTIFPFLEWMCMYRLKDWLLGDLLAGISVGLVQVPQGLTLSLLARQLIPPLNIAYAAFCSSVIYVIFGSCHQMSIGSFFLVSALLIN------VLKVSPFN-NGQLVMGSF-----------VKNEFSA--PSYLMGYNKS-----------LSVVATTTFLTGIIQLIMGVLGLGFIATYLPESAMSAYLAAVALHIMLSQLTFIFGIMISFHAGPISFFYDIINYCVALPKANSTSI------LVFLTVVVALRINKCIRISF-NQYPIEFPM---------------ELFLIIGFTVIANKISMATETSQTLIDMIPYSFLLPVTPDFSLLPKIILQAFS------------LSLVSSFLLIFLGKKIASLHNYSVNSNQDLIAIGLCNVVSSFFRSCVFTGAIARTIIQDKSGGRQQFASLVGAGVMLLLMVKMGHFFYTLPNAVLAGIILSNVIPYLETISNLPSLWRQDQYDCALWMMTFSSSIFLGLDIGLIISVVSAFFITTVRSHRAKILLLGQIPNTNIYRSINDYREIITIPGVKIFQCCSSITFVNVYYLKHKLLKEVDM---------VKVPLKE--EEIFSLFNSSDTNLQGGKICRCFCNCDDLEPLPRILYTERFENKLDPEASSINLIHCSHFESMNTSQTASEDQVPYTV-----SSVSQKNQGQQYEEVEEVWLPNNSSRNSSPGLPDVAESQGRRSLIPYSDASLLP--SVHTIILDFSMVHYVDSRGLVVLRQICNAFQN----ANILILIAGCHSSIVRAFERNDFF-DAG---ITKTQLFLSVHDAVLFALSRKVIGSSELSIDESET---VIRETYSETDKNDNSRYKMSSSFLGSQKNVSPGFIKIQQPVEEESELDLELESEQEAGLGLDLDLDRELEPEMEPKAETETKTQTEMEPQPETEPEMEPNPKSRPRAHTFPQQRYWPMYHPSMASTQSQTQTRTWSVERRRHPMDSYSPEGNSNEDV SLC26A9 ---------------MSQP--------------------------------RPRYVVDRAAYSLTLFDD--EFEKKDRTY-------PVGEKLRNAFRCSSAKIKAVVFGLLPVLSWLPKYKIKDYIIPDLLGGLSGGSIQVPQGMAFALLAN--LPAVNGLYSSFFPLLTYFFLGGVHQMVPGTFAVIS-ILVG----NICLQLAP---ESKFQVFN--------------NAT-----------NESYVDTAAMEAERLHVSATLACLTAIIQMGLGFMQFGFVAIYLSESFIRGFMTAAGLQILISVLKYIFGLTIPSYTGPGSIVFTFIDICKNLPHTNIASLIFALISGAFLVLV------KELNARYMHKIRFPIPT---------------EMIVVVVATAISGGCKMPKKYHMQIVGEIQRGFPTPVSPVVSQWKDMIGTAFS------------LAIVSYVINLAMGRTLANKHGYDVDSNQEMIALGCSNFFGSFFKIHVICCALSVTLAVDGAGGKSQVASLCVSLVVMITMLVLGIYLYPLPKSVLGALIAVNLKNSLKQLTDPYYLWRKSKLDCCIWVVSFLSSFFLSLPYGVAVGVAFSVLVVVFQTQFRNGYALAQVMDTDIYVNPKTYNRAQDIQGIKIITYCSPLYFANSEIFRQKVIAKTGMDPQKVLLAKQKYLKKQ--EKR------------------------RMRPTQQ-------RRSLF-------------MKTKTVSLQELQQDFENAPPTDP-NNNQTPANGTSVSYITFSPDSSSPAQS---EPPASAEAPGEPSDM---LASVPPFVTFHTLILDMSGVSFVDLMGIKALAKLSSTYGK----IGVKVFLVNIHAQVYNDISHGGVFEDGS---LECKHVFPSIHDAVLFAQANAR------DVTPGHNFQGAP-------GDAELSLYDSEEDI---------------------RSY---------------WDLEQEMFGSM-----FHAETLTAL----------------------------------------------------------------------
Variant
check | gene name | residue number | Reference Amino Acid / Variant Amino Acid | minor allele frequency | rs number |
---|---|---|---|---|---|
-- | SLC26A2 | 58 | R/H | 0.000159271 | rs199893058 |
-- | SLC26A2 | 65 | N/D | 0.000115444 | rs755049614 |
-- | SLC26A2 | 66 | F/L | 0.000103512 | rs200981220 |
-- | SLC26A2 | 77 | N/H | 0.00458756 | rs76784312 |
-- | SLC26A2 | 147 | A/S | 0.000103974 | rs201012489 |
-- | SLC26A2 | 217 | Y/C | 0.000171371 | rs377095681 |
-- | SLC26A2 | 219 | I/V | 0.00190928 | rs35919114 |
-- | SLC26A2 | 232 | Y/F | 0.00010463 | rs75097996 |
-- | SLC26A2 | 261 | S/C | 0.000747925 | rs114260147 |
-- | SLC26A2 | 279 | R/W | 0.000975163 | rs104893915 |
-- | SLC26A2 | 279 | R/Q | 0.000191065 | rs114569184 |
-- | SLC26A2 | 292 | H/R | 0.000115444 | rs761259326 |
-- | SLC26A2 | 298 | H/R | 0.000123416 | rs115111282 |
-- | SLC26A2 | 349 | F/Y | 0.000541651 | rs114212275 |
-- | SLC26A2 | 361 | A/T | 0.00023897 | rs139051143 |
-- | SLC26A2 | 412 | V/I | 0.000286709 | rs201714602 |
-- | SLC26A2 | 492 | R/W | 0.0167205 | rs78676079 |
-- | SLC26A2 | 504 | M/I | 0.000282643 | rs76668544 |
-- | SLC26A2 | 574 | I/T | 0.99308 | rs30832 |
-- | SLC26A2 | 653 | C/S | 0.00011143 | rs104893924 |
-- | SLC26A2 | 689 | T/S | 0.17227 | rs3776070 |
-- | SLC26A2 | 696 | N/S | 0.000552031 | rs34351171 |
Phylogenetic tree
Pathway
Priority | Gene Name | Reactome (Gene) | Reactome (Pathway) |
---|---|---|---|
main | SLC26A2 | SLC26A2 [plasma membrane] | Multifunctional anion exchangers |
SLC26A2 | SLC26A2 [plasma membrane] | Transport and synthesis of PAPS |
Disease
Gene Name | Reactome (Gene) | Reactome (Pathway) |
---|---|---|
SLC26A2 | SLC26A2 G255E [plasma membrane] | Defective SLC26A2 causes chondrodysplasias |
SLC26A2 | SLC26A2 L483P [plasma membrane] | Defective SLC26A2 causes chondrodysplasias |
SLC26A2 | SLC26A2 N425D [plasma membrane] | Defective SLC26A2 causes chondrodysplasias |
SLC26A2 | SLC26A2 R178* [plasma membrane] | Defective SLC26A2 causes chondrodysplasias |