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Detail Data SLC36A2


Basic description
Gene Name SLC36A2
Protein Name Proton-coupled amino acid transporter 2 (Proton/amino acid transporter 2) (Solute carrier family 36 member 2) (Tramdorin-1)
Family SLC36
Category Transport of inorganic cations/anions and amino acids/oligopeptides
Reaction name SLC36A2 cotransports Gly, L-Pro with H+ from extracellular region to cytosol
Reaction 1 H+ [extracellular region] + 1 Gly, L-Pro [extracellular region] --> 1 H+ [cytosol] + 1 Gly, L-Pro [cytosol]

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 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 
MSVTKSTEGP QGAVAIKLDL MSPPESAKKL ENKDSTFLDE SPSESAGLKK TKGITVFQAL IHLVKGNMGT GILGLPLAVK NAGILMGPLS LLVMGFIACH CMHILVKCAQ RFCKRLNKPF MDYGDTVMHG LEANPNAWLQ NHAHWGRHIV SFFLIITQLG FCCVYIVFLA DNLKQVVEAV NSTTNNCYSN ETVILTPTMD SRLYMLSFLP FLVLLVLIRN LRILTIFSML ANISMLVSLV IIIQYITQEI PDPSRLPLVA SWKTYPLFFG TAIFSFESIG VVLPLENKMK NARHFPAILS LGMSIVTSLY IGMAALGYLR FGDDIKASIS LNLPNCWLYQ SVKLLYIAGI LCTYALQFYV PAEIIIPFAI SRVSTRWALP LDLSIRLVMV CLTCLLAILI PRLDLVISLV GSVSGTALAL IIPPLLEVTT FYSEGMSPLT IFKDALISIL GFVGFVVGTY QALDELLKSE DSHPFSNSTT FVR 
CCCCCCCCCC CCCCCCCCCC CCCCHHHHHH CCCCCCCCCC CCCCCCCCCC CCCCCHHHHH HHHHHHHHCC HHHHHHHHHH HCCCCHHHHH HHHHHHHHHH HHHHHHHHHH HHCCCCCCCC CCHHHHHHHH HCCCHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HCCCCCCCCC CCCCHHHCCC HHHHHHHHHH HHHHHHHHHC CHHHHHHHHH HHHHHHHHHH HHHHHHHCCC CCCCCCCCCC CCCHHHHHHH HHHHHHHHHC CCCCCHHHCC CCCCCCHHHH HHHHHHHHHH HHHHHHHHHH HCCCCCCCHH HCCCCCHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HCCCCCCCCH HHHHHHHHHH HHHHHHHHHC CCHHHHHHHH HHHHHHHHHH HHHHHHHHHH HCCCCCCHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHCC CCCCCCCCCC CCC
[Overview] SLC36A1 SLC36A2 SLC36A3 SLC36A4 
SLC36A1   -------------------MSTQRLRNEDYH-DYSSTDVSPEESPSEGLNNLSSPGSYQRFGQSNST------------------TWFQTLIHLLKGNIGTGLLGLPLAVKNAGIVMGPISLLIIGIVAVHCMGILVKCAHHFCRRLNKSFVDYGDTVMYGLESSPCSWLRNHAHWG-----------------------------------------RRVVDFFLIVTQLGFCCVYFVFLADNFKQV----------IEAANGTTNNCHNNETVILTPTMDSRLYMLSFLPFLVLLVFIRNLRALSIFSLLANITMLVSLVMIYQFIVQRIPDPSHLPLVAPWKTYPLFFGTAIFSFEGIGMVLPLENKMKDPRKFPLILYLGMVIVTILYISLGCLGYLQFGANIQGSITLNLP-NCWLYQSVKLLYSIGIFFTYALQFYVPAEIIIPFFVSRAPEHCELVVDLFVRTVLVCLTCILAILIPRLDLVISLVGSVSSSALALIIPPLLEVTTFYSEGMSPLTIFKDALISILGFVGFVVGTYEALYELIQPSNAPIFI----------NSTCAFI---
SLC36A2   -------------------MSVTK-----------STE-GPQGAVAIKLDLMSPPESAKKLENKDSTFLDESPSESAGLKKTKGITVFQALIHLVKGNMGTGILGLPLAVKNAGILMGPLSLLVMGFIACHCMHILVKCAQRFCKRLNKPFMDYGDTVMHGLEANPNAWLQNHAHWG-----------------------------------------RHIVSFFLIITQLGFCCVYIVFLADNLKQV----------VEAVNSTTNNCYSNETVILTPTMDSRLYMLSFLPFLVLLVLIRNLRILTIFSMLANISMLVSLVIIIQYITQEIPDPSRLPLVASWKTYPLFFGTAIFSFESIGVVLPLENKMKNARHFPAILSLGMSIVTSLYIGMAALGYLRFGDDIKASISLNLP-NCWLYQSVKLLYIAGILCTYALQFYVPAEIIIPFAISRVSTRWALPLDLSIRLVMVCLTCLLAILIPRLDLVISLVGSVSGTALALIIPPLLEVTTFYSEGMSPLTIFKDALISILGFVGFVVGTYQALDELLKSEDSHPFS----------NST-TFVR--
SLC36A3   -------------------MSLLG---RDYNSELNSLDNGPQ----------SPSESSSSITSENVH-----PAGEAGL------SMMQTLIHLLKCNIGTGLLGLPLAIKNAGLLVGPVSLLAIGVLTVHCMVILLNCAQHLSQRLQKTFVNYGEATMYGLETCPNTWLRAHAVWGRWNLALSPRLECSGKISAHCNPHLQGSSNSPAQASRVAGIYRYTVSFLLVITQLGFCSVYFMFMADNLQQM----------VEKAHVTSNICQPREILTLTPILDIRFYMLIILPFLILLVFIQNLKVLSVFSTLANITTLGSMALIFEYIMEGIPYPSNLPLMANWKTFLLFFGTAIFTFEGVGMVLPLKNQMKHPQQFSFVLYLGMSIVIILYILLGTLGYMKFGSDTQASITLNLP-NCWLYQSVKLMYSIGIFFTYALQFHVPAEIIIPFAISQVSESWALFVDLSVRSALVCLTCVSAILIPRLDLVISLVGSVSSSALALIIPALLEIVIFYSEDMSCVTIAKDIMISIVGLLGCIFGTYQALYELPQPI-SHSMA----------NSTGVHA---
SLC36A4   MEAAATPAAAGAARREELDMDVMRPLINEQNFDGTSDEEHEQE--------LLPVQKHYQLDDQEGI------------------SFVQTLMHLLKGNIGTGLLGLPLAIKNAGIVLGPISLVFIGIISVHCMHILVRCSHFLCLRFKKSTLGYSDTVSFAMEVSPWSCLQKQAAWG-----------------------------------------RSVVDFFLVITQLGFCSVYIVFLAENVKQVHEGFLESKVFISNSTNSSNPCERRSV-------DLRIYMLCFLPFIILLVFIRELKNLFVLSFLANVSMAVSLVIIYQYVVRNMPDPHNLPIVAGWKKYPLFFGTAVFAFEGIGVVLPLENQMKESKRFPQALNIGMGIVTTLYVTLATLGYMCFHDEIKGSITLNLPQDVWLYQSVKILYSFGIFVTYSIQFYVPAEIIIPGITSKFHTKWKQICEFGIRSFLVSITCAGAILIPRLDIVISFVGAVSSSTLALILPPLVEILTFSKEHYNIWMVLKNISIAFTGVVGFLLGTYITVEEIIYPT-PKVVAGTPQSPFLNLNSTCLTSGLK

Variant
check gene name residue number Reference Amino Acid / Variant Amino Acid minor allele frequency rs number
-- SLC36A2 26 S/G 0.000278339 rs34388792
-- SLC36A2 87 G/V 0.00935063 rs77010315
-- SLC36A2 95 L/V 0.000476756 rs61730393
-- SLC36A2 108 C/Y 0.000596531 rs200123093
-- SLC36A2 144 H/Y 0.000290312 rs80168260
-- SLC36A2 171 D/G 0.000262549 rs149024678
-- SLC36A2 180 V/I 0.00012331 rs751339258
-- SLC36A2 196 T/I 0.00168618 rs146604514
-- SLC36A2 202 R/Q 0.000238616 rs146165920
-- SLC36A2 205 M/V 0.000123285 rs143611303
-- SLC36A2 219 R/Q 0.000103463 rs181293533
-- SLC36A2 234 S/T 0.000135396 rs768209798
-- SLC36A2 304 S/F 0.00475702 rs142783014
-- SLC36A2 317 G/A 0.000115482 rs146104200
-- SLC36A2 348 A/V 0.000171121 rs150036744
-- SLC36A2 360 V/I 0.000123354 rs202021417
-- SLC36A2 376 R/C 0.000764343 rs140044970
-- SLC36A2 402 R/H 0.000318687 rs151035012
-- SLC36A2 413 V/M 0.000123406 rs763459844
-- SLC36A2 416 T/N 0.00149646 rs61572410
-- SLC36A2 424 P/L 0.000135328 rs370237268
-- SLC36A2 424 P/R 0.000310458 rs370237268
-- SLC36A2 445 A/V 0.0409646 rs10042608
-- SLC36A2 471 D/N 0.000994099 rs140682366

Phylogenetic tree

Pathway
Priority Gene Name Reactome (Gene) Reactome (Pathway)
main SLC36A2 SLC36A2 [plasma membrane] Amino acid transport across the plasma membrane
main SLC36A2 SLC36A2 [plasma membrane] Proton-coupled neutral amino acid transporters

Disease
Gene Name Reactome (Gene) Reactome (Pathway)
SLC36A2 SLC36A2 V56* [plasma membrane] Defective SLC36A2 causes iminoglycinuria (IG) and hyperglycinuria (HG)
SLC36A2 SLC36A2 G87V [plasma membrane] Defective SLC36A2 causes iminoglycinuria (IG) and hyperglycinuria (HG)