SLC11A2: Solute Carrier Family 11 Member 2
Divalent Metal Transporter 1 (DMT1) – Iron and Manganese Homeostasis Gene
Gene Information Card
| Symbol | SLC11A2 |
|---|---|
| Full Name | Solute Carrier Family 11 Member 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 12q13.12 |
| NCBI Gene ID | 4891 ncbi.nlm.nih.gov/gene/4891 |
| Ensembl ID | ENSG00000110921 |
| UniProt ID | P49281 |
| OMIM ID | 600523 |
| HGNC ID | 10908 |
| Aliases | DMT1, NRAMP2, DCT1, SLC11A2 |
Description
SLC11A2 encodes the divalent metal transporter 1 (DMT1), a transmembrane protein that mediates the uptake of divalent metal ions, including iron (Fe2+), manganese (Mn2+), cobalt (Co2+), and cadmium (Cd2+). DMT1 is critical for intestinal iron absorption and erythroid iron utilization. Mutations in SLC11A2 cause microcytic anemia and iron deficiency, and variants have been associated with manganese-induced neurotoxicity and Parkinson's disease risk.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Microcytic anemia with iron overload | Loss-of-function mutations impair intestinal iron absorption, leading to systemic iron deficiency despite iron accumulation in enterocytes. | PMID: 15654328, ClinVar |
| Manganese-induced neurotoxicity | Impaired manganese transport in the brain leads to manganese accumulation and neurotoxic effects. | PMID: 21917921, OMIM |
| Parkinson's disease (susceptibility) | Genetic variants in SLC11A2 may alter manganese homeostasis, contributing to dopaminergic neuron degeneration. | PMID: 21917921, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Duodenum | 45.2 | High |
| Liver | 12.8 | Medium |
| Kidney | 18.5 | Medium |
| Brain (cerebellum) | 8.3 | Low |
| Bone marrow | 22.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 (intestinal) | 35.6 | High expression |
| HepG2 (liver) | 14.2 | Moderate expression |
| SH-SY5Y (neuronal) | 9.8 | Low expression |
| K562 (erythroleukemia) | 28.4 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.310-3C>G | Splice site | Rare | Loss of function; causes microcytic anemia |
| p.Gly185Arg | Missense | Rare | Impaired iron transport; associated with anemia |
| p.Arg416Cys | Missense | Rare | Reduced manganese transport; linked to neurotoxicity |
Mutation functional classification
Loss of Function (LOF)
Splice site and missense mutations (e.g., c.310-3C>G, p.Gly185Arg) reduce or abolish DMT1-mediated metal ion transport, leading to iron deficiency anemia.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in SLC11A2.
Dominant Negative (DN)
No dominant-negative mutations described for SLC11A2.
View complete mutation data：
Gene Ontology (GO)
| • iron ion transmembrane transporter activity (GO:0005381) | • manganese ion transmembrane transporter activity (GO:0015082) |
| • cobalt ion transmembrane transporter activity (GO:0015095) | • cadmium ion transmembrane transporter activity (GO:0015093) |
| • iron ion transport (GO:0006826) | • response to zinc ion (GO:0010043) |
| • plasma membrane (GO:0005886) |
Pathways
• Iron uptake and transport (Reactome: R-HSA-917937)
• Metal ion SLC transporters (KEGG: hsa04978)
• Mineral absorption (KEGG: hsa04978)
Protein Summary
DMT1 (NRAMP2) is a 12-transmembrane domain protein that functions as a proton-coupled symporter for divalent metal ions. It is expressed on the apical membrane of duodenal enterocytes and in endosomal compartments of erythroid cells. The protein exists in multiple isoforms due to alternative splicing, with isoform 1 (IRE-containing) regulated by iron levels via iron-responsive elements. DMT1 is essential for dietary iron absorption and erythroid iron recycling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC11A2 Knockout HEK293 Cell Line | EDJ-KQ15293 | Human | 4891 | Details Get a Quote |
| SLC11A2 Knockout HCT 116 Cell Line | EDJ-KQ45991 | Human | 4891 | Details Get a Quote |
| SLC11A2 Knockout HeLa Cell Line | EDJ-KQ45992 | Human | 4891 | Details Get a Quote |
| SLC11A2 Knockout A-549 Cell Line | EDJ-KQ48181 | Human | 4891 | Details Get a Quote |
| SLC11A2 Knockout Caco-2 Cell Line | EDJ-KZ470 | Human | 4891 | Details Get a Quote |
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