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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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SLC11A2
solute carrier family 11 member 2
Chromosome 12 Β· 12q13.12
NCBI Gene: 4891Ensembl: ENSG00000110911.17HGNC: HGNC:10908UniProt: A0A0X8GKR4
141PubMed Papers
21Diseases
0Drugs
8Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
apical plasma membranelead ion transportiron ion transmembrane transportmulticellular organismal-level iron ion homeostasismicrocytic anemia with liver iron overloadhypochromic microcytic anemiaovarian neoplasmgenetic disorder
✦AI Summary

SLC11A2 (DMT1) functions as a proton-coupled metal ion symporter that transports various divalent metal cations across cellular membranes with a 1:1 stoichiometry, showing selectivity for Cd(2+) > Fe(2+) > Co(2+), Mn(2+) >> Zn(2+), Ni(2+) 1. The transporter is essential for iron homeostasis by mediating intestinal iron absorption and transferrin-associated endosomal iron transport in erythroid precursors 2. SLC11A2 enables Fe(2+) and Mn(2+) entry into mitochondria, supporting heme synthesis and iron-sulfur cluster biogenesis 1. The protein localizes to late endosomes and lysosomes where it facilitates iron release from these compartments, representing a DMT1-independent pathway for cellular iron acquisition 2. Disease relevance includes associations with hypochromic microcytic anemia with iron overload, and disrupted SLC11A2 function contributes to iron accumulation in adipocytes during inflammation 3. In cancer contexts, SLC11A2 expression correlates with poor prognosis in ovarian cancer and promotes muscle wasting in pancreatic cancer cachexia through ferroptosis induction 45. The transporter is regulated by multiple microRNAs including miR-149-5p, miR-362-5p, and miR-539-5p, which modulate both gene expression and iron transport activity 6. Therapeutic targeting of SLC11A2 represents a promising approach for treating iron-related disorders and certain cancers.

Sources cited
1
SLC11A2 functions as proton-coupled metal ion symporter with selectivity for various divalent cations and enables mitochondrial iron/manganese entry
PMID: 37055935
2
SLC11A2 mediates iron release from late endosomes and lysosomes, representing DMT1-independent iron transport pathway
PMID: 18794901
3
LPS-induced inflammation increases SLC11A2 expression leading to iron accumulation in human adipocytes
PMID: 37677967
4
High SLC11A2 expression correlates with shorter survival in ovarian cancer patients
PMID: 36670142
5
SLC11A2 promotes muscle wasting in pancreatic cancer cachexia through ferroptosis induction
PMID: 39921083
6
Three microRNAs (miR-149-5p, miR-362-5p, miR-539-5p) regulate SLC11A2 expression and iron transport activity
PMID: 36047197
Disease Associationsβ“˜21
microcytic anemia with liver iron overloadOpen Targets
0.78Strong
hypochromic microcytic anemiaOpen Targets
0.37Weak
ovarian neoplasmOpen Targets
0.26Weak
genetic disorderOpen Targets
0.19Weak
atrial fibrillationOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.08Suggestive
Blackfan-Diamond anemiaOpen Targets
0.08Suggestive
inosine triphosphatase deficiencyOpen Targets
0.08Suggestive
hemoglobin D diseaseOpen Targets
0.08Suggestive
ovarian cancerOpen Targets
0.08Suggestive
X-linked sideroblastic anemia 1Open Targets
0.07Suggestive
familial hyperaldosteronismOpen Targets
0.07Suggestive
alpha thalassemia-intellectual disability syndrome type 1Open Targets
0.07Suggestive
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16Open Targets
0.07Suggestive
Congenital dyserythropoietic anemia type IOpen Targets
0.07Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.07Suggestive
subarachnoid hemorrhageOpen Targets
0.07Suggestive
hemoglobin E diseaseOpen Targets
0.07Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.07Suggestive
dominant beta-thalassemiaOpen Targets
0.07Suggestive
Anemia, hypochromic microcytic, with iron overload 1UniProt
Pathogenic Variants8
NM_000617.3(SLC11A2):c.157G>T (p.Glu53Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 53
NM_000617.3(SLC11A2):c.675+35A>GPathogenic
Microcytic anemia with liver iron overload
β˜…β˜†β˜†β˜†2022
NM_000617.3(SLC11A2):c.223G>A (p.Gly75Arg)Pathogenic
Microcytic anemia with liver iron overload|SLC11A2-related disorder
β˜…β˜†β˜†β˜†2022β†’ Residue 75
NM_000617.3(SLC11A2):c.341_343del (p.Val114del)Pathogenic
Microcytic anemia with liver iron overload
β˜†β˜†β˜†β˜†2006β†’ Residue 114
NM_000617.3(SLC11A2):c.635G>T (p.Gly212Val)Pathogenic
Microcytic anemia with liver iron overload
β˜†β˜†β˜†β˜†2006β†’ Residue 212
NM_000617.3(SLC11A2):c.1246C>T (p.Arg416Cys)Pathogenic
Microcytic anemia with liver iron overload
β˜†β˜†β˜†β˜†2006β†’ Residue 416
NM_000617.3(SLC11A2):c.310-5_310-3delPathogenic
Microcytic anemia with liver iron overload
β˜†β˜†β˜†β˜†2006
NM_000617.3(SLC11A2):c.1197G>C (p.Glu399Asp)Pathogenic
Microcytic anemia with liver iron overload
β˜†β˜†β˜†β˜†2005β†’ Residue 399
View on ClinVar β†—
Related Genes
FECHProtein interaction93%ACO1Protein interaction92%FTH1Protein interaction92%FTLProtein interaction92%IREB2Protein interaction92%HJVProtein interaction90%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
95%
Brain
91%
Liver
87%
Heart
52%
Ovary
47%
Gene Interaction Network
Click a node to explore
SLC11A2FECHACO1FTH1FTLIREB2HJV
PROTEIN STRUCTURE
Preparing viewer…
PDB5F0P Β· 2.78 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.78LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.59 [0.45–0.78]
RankingsWhere SLC11A2 stands among ~20K protein-coding genes
  • #3,264of 20,598
    Most Researched141 Β· top quartile
  • #3,045of 5,498
    Most Pathogenic Variants8
  • #6,383of 17,882
    Most Constrained (LOEUF)0.78
Genes detectedSLC11A2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Copper metabolism in cell death and autophagy.
PMID: 37055935
Autophagy Β· 2023
1.00
2
Inflammatory response to bacterial lipopolysaccharide drives iron accumulation in human adipocytes.
PMID: 37677967
Biomed Pharmacother Β· 2023
0.90
3
The Associations between Metalloestrogens, GSTP1, and SLC11A2 Polymorphism and the Risk of Endometrial Cancer.
PMID: 35893933
Nutrients Β· 2022
0.80
4
SLC11A2: a promising biomarker and therapeutic target in ovarian cancer.
PMID: 36670142
Sci Rep Β· 2023
0.70
5
Regulation of Iron-Ion Transporter SLC11A2 by Three Identical miRNAs.
PMID: 36047197
Biol Pharm Bull Β· 2022
0.60