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Detail Data SLC11A2


Basic description
Gene Name SLC11A2
Protein Name Natural resistance-associated macrophage protein 2 (NRAMP 2) (Divalent cation transporter 1) (Divalent metal transporter 1) (DMT-1) (Solute carrier family 11 member 2)
Family SLC11
Category Transport of bile salts and organic acids, metal ions and amine compounds
Reaction name SLC11A2 cotransports Fe2+, H+ from extracellular region to cytosol
Reaction 1 H+ [extracellular region] + 1 Fe2+ [extracellular region] --> 1 H+ [cytosol] + 1 Fe2+ [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 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 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 
MRKKQLKTEA APHCELKSYS KNSATQVSTM VLGPEQKMSD DSVSGDHGES ASLGNINPAY SNPSLSQSPG DSEEYFATYF NEKISIPEEE YSCFSFRKLW AFTGPGFLMS IAYLDPGNIE SDLQSGAVAG FKLLWILLLA TLVGLLLQRL AARLGVVTGL HLAEVCHRQY PKVPRVILWL MVELAIIGSD MQEVIGSAIA INLLSVGRIP LWGGVLITIA DTFVFLFLDK YGLRKLEAFF GFLITIMALT FGYEYVTVKP SQSQVLKGMF VPSCSGCRTP QIEQAVGIVG AVIMPHNMYL HSALVKSRQV NRNNKQEVRE ANKYFFIESC IALFVSFIIN VFVVSVFAEA FFGKTNEQVV EVCTNTSSPH AGLFPKDNST LAVDIYKGGV VLGCYFGPAA LYIWAVGILA AGQSSTMTGT YSGQFVMEGF LNLKWSRFAR VVLTRSIAII PTLLVAVFQD VEHLTGMNDF LNVLQSLQLP FALIPILTFT SLRPVMSDFA NGLGWRIAGG ILVLIICSIN MYFVVVYVRD LGHVALYVVA AVVSVAYLGF VFYLGWQCLI ALGMSFLDCG HTVSISKGLL TEEATRGYVK  
CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCHHC CCEEECCHHH CCCCCHHHHH HHHHHHHHHH HHHCCCCCCH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHCC CHHHHHHHHC CCCCHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHCCCCCC CHHHHHHHHH HHHHHHHHHH CCHHHHHHHH HHHHHHHHHH HHHHHHCCCC CHHHHHCCCC CCCCCCCCCH HHHHHHHHHH CCCCCCHHHH HHHHHHHHHH CCCCHHHHHH HHHHCCHHHH HHHHHHHHHH HHHHHHHHHH HHHCCCCHHC CHHHCCCCCC CCCCCCCCHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHCHHHHHH HHHHHHEEEH HHHHHHHHCC CCCHHHHHHH HHHHHHCHHH HHHHHHHHHC CCCCCCCCCC CHHHHHHHHH HHHHHHHHHH HHHHHHHHHH CCHHHHHHHH HHHHHHHHHH HHHHHHHHHH HCCCHHHCCC CCCCCCCCEE CCCCCCCCCC
[Overview] SLC11A1 SLC11A2 
SLC11A1   ------------------------------------------MTGDKGPQRLSGSSYGSI----SSPTSPTSPGPQQAPPRETYLSEKIPIPDTKPGTFSLRKLWAFTGPGFLMSIAFLDPGNIESDLQAGAVAGFKLLWVLLWATVLGLLCQRLAARLGVVTGKDLGEVCHLYYPKVPRTVLWLTIELAIVGSDMQEVIGTAIAFNLLSAGRIPLWGGVLITIVDTFFFLFLDNYGLRKLEAFFGLLITIMALTFGYEYVVARPEQGALLRGLFLPSCPGCGHPELLQAVGIVGAIIMPHNIYLHSALVKSREIDRARRADIREANMYFLIEATIALSVSFIINLFVMAVFGQAFYQKTNQAAFNICANSSLHDYAKIFPMNNATVAVDIYQGGVILGCLFGPAALYIWAIGLLAAGQSSTMTGTYAGQFVMEGFLRLRWSRFARVLLTRSCAILPTVLVAVFRDLRDLSGLNDLLNVLQSLLLPFAVLPILTFTSMPTLMQEFANGLLNKVVTSSIMVLVCAINLYFVVSYLPSLPHPAYFGLAALLAAAYLGLSTYLVWTCCLAHGATFLAHSSHHHFLYGLLEEDQKGETSG---
SLC11A2   MRKKQLKTEAAPHCELKSYSKNSATQVSTMVLGPEQKMSDDSVSGDHG----ESASLGNINPAYSNPSLSQSPGDSEE-YFATYFNEKISIPEEEYSCFSFRKLWAFTGPGFLMSIAYLDPGNIESDLQSGAVAGFKLLWILLLATLVGLLLQRLAARLGVVTGLHLAEVCHRQYPKVPRVILWLMVELAIIGSDMQEVIGSAIAINLLSVGRIPLWGGVLITIADTFVFLFLDKYGLRKLEAFFGFLITIMALTFGYEYVTVKPSQSQVLKGMFVPSCSGCRTPQIEQAVGIVGAVIMPHNMYLHSALVKSRQVNRNNKQEVREANKYFFIESCIALFVSFIINVFVVSVFAEAFFGKTNEQVVEVCTNTS-SPHAGLFPKDNSTLAVDIYKGGVVLGCYFGPAALYIWAVGILAAGQSSTMTGTYSGQFVMEGFLNLKWSRFARVVLTRSIAIIPTLLVAVFQDVEHLTGMNDFLNVLQSLQLPFALIPILTFTSLRPVMSDFANGLGWRIAGGILVLIICSINMYFVVVYVRDLGHVALYVVAAVVSVAYLGFVFYLGWQCLIALGMSFLDCGHTVSISKGLLTEE---ATRGYVK

Variant
check gene name residue number Reference Amino Acid / Variant Amino Acid minor allele frequency rs number
-- SLC11A2 3 T/M 0.000988692 rs114005357
-- SLC11A2 6 Y/S 0.937564 rs445520
-- SLC11A2 95 S/N 0.000954935 rs141728916
-- SLC11A2 187 I/V 0.000107432 rs771454721
-- SLC11A2 238 A/T 0.00116154 rs115874705
-- SLC11A2 327 I/T 0.00263769 rs17216051
-- SLC11A2 449 I/V 0.000556979 rs148582995
-- SLC11A2 464 L/I 0.00221996 rs144863268
-- SLC11A2 529 R/W 0.00125156 rs17216086
-- SLC11A2 547 G/R 0.000128772 rs768918190
-- SLC11A2 562 A/T 0.000584211 rs200811113
-- SLC11A2 586 R/H 0.000127418 rs200378439

Phylogenetic tree

Pathway
Priority Gene Name Reactome (Gene) Reactome (Pathway)
main SLC11A2 SLC11A2 [plasma membrane] Metal ion SLC transporters
SLC11A2 SLC11A2 [plasma membrane] Iron uptake and transport

Disease
Gene Name Reactome (Gene) Reactome (Pathway)
SLC11A2 SLC11A2 310delCTT [plasma membrane] Defective SLC11A2 causes hypochromic microcytic anemia, with iron overload 1 (AHMIO1)
SLC11A2 SLC11A2 E399D [plasma membrane] Defective SLC11A2 causes hypochromic microcytic anemia, with iron overload 1 (AHMIO1)
SLC11A2 SLC11A2 V114del [plasma membrane] Defective SLC11A2 causes hypochromic microcytic anemia, with iron overload 1 (AHMIO1)
SLC11A2 SLC11A2 R416C [plasma membrane] Defective SLC11A2 causes hypochromic microcytic anemia, with iron overload 1 (AHMIO1)
SLC11A2 SLC11A2 G212V [plasma membrane] Defective SLC11A2 causes hypochromic microcytic anemia, with iron overload 1 (AHMIO1)