SLC11A2
entrez
4891
canonical
uniprot
P49281
canonical
ensembl
ENSG00000110911
resolver
ensp
ENSP00000262052
resolver
ensp
ENSP00000378364
resolver
ensp
ENSP00000442810
resolver
ensp
ENSP00000444542
resolver
ensp
ENSP00000446769
resolver
ensp
ENSP00000446914
resolver
ensp
ENSP00000449200
resolver
ensp
ENSP00000494107
resolver
ensp
ENSP00000536787
resolver
ensp
ENSP00000536788
resolver
ensp
ENSP00000536789
resolver
ensp
ENSP00000756503
resolver
enst
ENST00000546743
resolver
genesymbol
SLC11A2
resolver
genesymbol_syn
DCT1
resolver
genesymbol_syn
DMT1
resolver
genesymbol_syn
NRAMP2
resolver
hgnc
HGNC:10908
resolver
uniprot
A0A0X8GKR4
resolver
uniprot
B3KT08
resolver
uniprot
B4DK84
resolver
uniprot
F5H741
resolver
uniprot
F8W1P7
resolver
uniprot
O43288
resolver
uniprot
O60932
resolver
uniprot
O94801
resolver
uniprot
Q498Z5
resolver
uniprot
Q8IUD7
resolver
uniprot
Q96J35
resolver
uniprot_entry
A0A0X8GKR4_HUMAN
resolver
uniprot_entry
F8W1P7_HUMAN
resolver
uniprot_entry
NRAM2_HUMAN
resolver
uniprot_sec
B3KT08
resolver
uniprot_sec
B4DK84
resolver
uniprot_sec
F5H741
resolver
uniprot_sec
O43288
resolver
uniprot_sec
O60932
resolver
uniprot_sec
O94801
resolver
uniprot_sec
Q498Z5
resolver
uniprot_sec
Q8IUD7
resolver
uniprot_sec
Q96J35
resolver
amino_acid_sequence
MVLGPEQKMSDDSVSGDHGESASLGNINPAYSNPSLSQSPGDSEEYFATYFNEKISIPEEEYSCFSFRKLWAFTGPGFLMSIAYLDPGNIESDLQSGAVAGFKLLWILLLATLVGLLLQRLAARLGVVTGLHLAEVCHRQYPKVPRVILWLMVELAIIGSDMQEVIGSAIAINLLSVGRIPLWGGVLITIADTFVFLFLDKYGLRKLEAFFGFLITIMALTFGYEYVTVKPSQSQVLKGMFVPSCSGCRTPQIEQAVGIVGAVIMPHNMYLHSALVKSRQVNRNNKQEVREANKYFFIESCIALFVSFIINVFVVSVFAEAFFGKTNEQVVEVCTNTSSPHAGLFPKDNSTLAVDIYKGGVVLGCYFGPAALYIWAVGILAAGQSSTMTGTYSGQFVMEGFLNLKWSRFARVVLTRSIAIIPTLLVAVFQDVEHLTGMNDFLNVLQSLQLPFALIPILTFTSLRPVMSDFANGLGWRIAGGILVLIICSINMYFVVVYVRDLGHVALYVVAAVVSVAYLGFVFYLGWQCLIALGMSFLDCGHTCHLGLTAQPELYLLNTMDADSLVSR
uniprot
proteins
disease_involvement
DISEASE: Anemia, hypochromic microcytic, with iron overload 1 (AHMIO1) [MIM:206100]: A hematologic disease characterized by abnormal hemoglobin content in the erythrocytes which are reduced in size. The disorder is due to an error of iron metabolism that results in high serum iron, massive hepatic iron deposition, and absence of sideroblasts and stainable bone marrow iron store. Despite adequate transferrin-iron complex, delivery of iron to the erythroid bone marrow is apparently insufficient for the demands of hemoglobin synthesis. {ECO:0000269|PubMed:15459009, ECO:0000269|PubMed:16160008, ECO:0000269|PubMed:16439678}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Proton-coupled metal ion symporter operating with a proton to metal ion stoichiometry of 1:1 (PubMed:17109629, PubMed:17293870, PubMed:22736759, PubMed:25326704, PubMed:25491917, PubMed:39824808). Selectively transports various divalent metal cations, in decreasing affinity: Cd(2+) > Fe(2+) > Co(2+), Mn(2+) >> Zn(2+), Ni(2+), VO(2+) (PubMed:17109629, PubMed:17293870, PubMed:22736759, PubMed:25326704, PubMed:25491917). Essential for maintenance of iron homeostasis by modulating intestinal absorption of dietary Fe(2+) and TF-associated endosomal Fe(2+) transport in erythroid precursors and other cells (By similarity). Enables Fe(2+) and Mn(2+) ion entry into mitochondria, and is thus expected to promote mitochondrial heme synthesis, iron-sulfur cluster biogenesis and antioxidant defense (By similarity) (PubMed:24448823). Can mediate uncoupled fluxes of either protons or metal ions. {ECO:0000250|UniProtKB:O54902, ECO:0000250|UniProtKB:P49282, ECO:0000269|PubMed:17109629, ECO:0000269|PubMed:17293870, ECO:0000269|PubMed:22736759, ECO:0000269|PubMed:24448823, ECO:0000269|PubMed:25326704, ECO:0000269|PubMed:25491917, ECO:0000269|PubMed:39824808}.
uniprot
proteins
mass_dalton
62266
uniprot
proteins
mutagenesis
MUTAGEN 86; /note="D->A: Abolishes metal ion transport."; /evidence="ECO:0000269|PubMed:25326704, ECO:0000269|PubMed:39824808"; MUTAGEN 89; /note="N->A: Decreases affinity for divalent metal cations. Impairs metal ion transport."; /evidence="ECO:0000269|PubMed:25326704, ECO:0000269|PubMed:39824808"; MUTAGEN 265; /note="M->A: Abolishes metal ion transport."; /evidence="ECO:0000269|PubMed:25326704"; MUTAGEN 338; /note="S->A: Abolishes N-glycosylation; when associated with A-351. Does not affect endosome targeting; when associated with A-351. Impairs sorting to the apical membrane; when associated with A-351."; /evidence="ECO:0000269|PubMed:12475959"; MUTAGEN 351; /note="T->A: Abolishes N-glycosylation; when associated with A-338. Does not affect endosome targeting; when associated with A-338. Impairs sorting to the apical membrane; when associated with A-338."; /evidence="ECO:0000269|PubMed:12475959"; MUTAGEN 555; /note="Y->A: Abolishes localization at early endosomes and leads to localization at late endosomes and lysosomes."; /evidence="ECO:0000269|PubMed:12475959"; MUTAGEN 557; /note="L->A: Abolishes localization at early endosomes and leads to localization at late endosomes and lysosomes."; /evidence="ECO:0000269|PubMed:12475959
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by WWP2. {ECO:0000250|UniProtKB:P49282}.; PTM: N-glycosylated. {ECO:0000269|PubMed:12475959}.
uniprot
proteins
protein_family
NRAMP (TC 2.A.55) family
uniprot
proteins
pubmed
12209011
uniprot
proteins
pubmed
12475959
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15459009
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16160008
uniprot
proteins
pubmed
16439678
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17109629
uniprot
proteins
pubmed
17293870
uniprot
proteins
pubmed
19706893
uniprot
proteins
pubmed
22736759
uniprot
proteins
pubmed
24448823
uniprot
proteins
pubmed
25326704
uniprot
proteins
pubmed
25491917
uniprot
proteins
pubmed
27462458
uniprot
proteins
pubmed
29317744
uniprot
proteins
pubmed
39824808
uniprot
proteins
pubmed
7613023
uniprot
proteins
pubmed
9464519
uniprot
proteins
pubmed
9642100
uniprot
proteins
pubmed
9790986
uniprot
proteins
sequence_length
568
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Early endosome membrane {ECO:0000269|PubMed:12475959}; Multi-pass membrane protein {ECO:0000255}. Apical cell membrane {ECO:0000269|PubMed:12475959}; Multi-pass membrane protein {ECO:0000255}. Note=Predominantly localizes in early endosomes that underlie the apical membrane of polarized epithelia. {ECO:0000269|PubMed:12475959}.; SUBCELLULAR LOCATION: [Isoform 2]: Late endosome membrane {ECO:0000269|PubMed:12475959}; Multi-pass membrane protein {ECO:0000255}. Lysosome membrane {ECO:0000269|PubMed:12475959}; Multi-pass membrane protein {ECO:0000255}. Apical cell membrane {ECO:0000269|PubMed:12475959}; Multi-pass membrane protein {ECO:0000255}. Cell membrane {ECO:0000269|PubMed:27462458}; Multi-pass membrane protein {ECO:0000255}. Extracellular vesicle membrane {ECO:0000269|PubMed:27462458}; Multi-pass membrane protein.; SUBCELLULAR LOCATION: [Isoform 3]: Cell membrane {ECO:0000269|PubMed:25491917}.; SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:24448823}; Multi-pass membrane protein {ECO:0000255}. Golgi apparatus, trans-Golgi network membrane {ECO:0000250|UniProtKB:P49282}; Multi-pass membrane protein {ECO:0000255}. Recycling endosome membrane {ECO:0000250|UniProtKB:P49282}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 76..92; /note="Helical; Name=1"; /evidence="ECO:0000269|PubMed:39824808, ECO:0007744|PDB:9F6N, ECO:0007744|PDB:9F6O"; TRANSMEM 104..118; /note="Helical; Name=2"; /evidence="ECO:0000269|PubMed:39824808, ECO:0007744|PDB:9F6N, ECO:0007744|PDB:9F6O"; TRANSMEM 148..168; /note="Helical; Name=3"; /evidence="ECO:0000269|PubMed:39824808, ECO:0007744|PDB:9F6N, ECO:0007744|PDB:9F6O"; TRANSMEM 185..199; /note="Helical; Name=4"; /evidence="ECO:0000269|PubMed:39824808, ECO:0007744|PDB:9F6N, ECO:0007744|PDB:9F6O"; TRANSMEM 207..222; /note="Helical; Name=5"; /evidence="ECO:0000269|PubMed:39824808, ECO:0007744|PDB:9F6N, ECO:0007744|PDB:9F6O"; TRANSMEM 253..268; /note="Helical; Name=6"; /evidence="ECO:0000269|PubMed:39824808, ECO:0007744|PDB:9F6N, ECO:0007744|PDB:9F6O"; TRANSMEM 298..314; /note="Helical; Name=7"; /evidence="ECO:0000269|PubMed:39824808, ECO:0007744|PDB:9F6N, ECO:0007744|PDB:9F6O"; TRANSMEM 377..393; /note="Helical; Name=8"; /evidence="ECO:0000269|PubMed:39824808, ECO:0007744|PDB:9F6N, ECO:0007744|PDB:9F6O"; TRANSMEM 408..424; /note="Helical; Name=9"; /evidence="ECO:0000269|PubMed:39824808, ECO:0007744|PDB:9F6N, ECO:0007744|PDB:9F6O"; TRANSMEM 438..454; /note="Helical; Name=10"; /evidence="ECO:0000269|PubMed:39824808, ECO:0007744|PDB:9F6N, ECO:0007744|PDB:9F6O"; TRANSMEM 478..499; /note="Helical; Name=11"; /evidence="ECO:0000269|PubMed:39824808, ECO:0007744|PDB:9F6N, ECO:0007744|PDB:9F6O"; TRANSMEM 505..525; /note="Helical; Name=12"; /evidence="ECO:0000250|UniProtKB:P49279
uniprot
proteins