SLC11A2 - solute carrier family 11 member 2 Gene
Also Known as DCT1; DMT1; AHMIO1; NRAMP2
Species: Homo sapiens
About SLC11A2
This gene has 33 transcripts (splice variants), 276 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in duodenum (RPKM 12.8), thyroid (RPKM 12.7) and 25 other tissues.
Summary
This gene encodes a member of the solute carrier family 11 protein family. The product of this gene transports divalent metals and is involved in iron absorption. Mutations in this gene are associated with hypochromic microcytic anemia with iron overload. A related solute carrier family 11 protein gene is located on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2010]
SLC11A2 Products (18)
| mRNA | Protein | Name |
|---|---|---|
| NM_000617.3 | NP_000608.1 | natural resistance-associated macrophage protein 2 isoform 3 |
| NM_001174125.2 | NP_001167596.1 | natural resistance-associated macrophage protein 2 isoform 1 |
| NM_001174126.2 | NP_001167597.1 | natural resistance-associated macrophage protein 2 isoform 2 |
| NM_001174127.2 | NP_001167598.1 | natural resistance-associated macrophage protein 2 isoform 2 |
| NM_001174128.2 | NP_001167599.1 | natural resistance-associated macrophage protein 2 isoform 3 |
| NM_001174129.2 | NP_001167600.1 | natural resistance-associated macrophage protein 2 isoform 3 |
| NM_001174130.2 | NP_001167601.1 | natural resistance-associated macrophage protein 2 isoform 4 |
| NM_001379446.1 | NP_001366375.1 | natural resistance-associated macrophage protein 2 isoform 5 |
| NM_001379447.2 | NP_001366376.1 | natural resistance-associated macrophage protein 2 isoform 2 |
| NM_001379448.1 | NP_001366377.1 | natural resistance-associated macrophage protein 2 isoform 6 |
| NM_001379455.1 | NP_001366384.1 | natural resistance-associated macrophage protein 2 isoform 1 |
| NM_001414744.1 | NP_001401673.1 | natural resistance-associated macrophage protein 2 isoform 3 |
| NM_001414745.1 | NP_001401674.1 | natural resistance-associated macrophage protein 2 isoform 3 |
| NM_001414746.1 | NP_001401675.1 | natural resistance-associated macrophage protein 2 isoform 3 |
| NM_001414747.1 | NP_001401676.1 | natural resistance-associated macrophage protein 2 isoform 7 |
| NM_001414748.1 | NP_001401677.1 | natural resistance-associated macrophage protein 2 isoform 8 |
| NM_001414749.1 | NP_001401678.1 | natural resistance-associated macrophage protein 2 isoform 9 |
| NM_001414750.1 | NP_001401679.1 | natural resistance-associated macrophage protein 2 isoform 9 |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in apical part of cell |
IDA
IDA: Inferred from direct assay
|
15880641 | GOA |
| located in apical plasma membrane |
IDA
IDA: Inferred from direct assay
|
12475959 | GOA |
| located in basal part of cell |
IDA
IDA: Inferred from direct assay
|
15880641 | GOA |
| located in cell surface |
IDA
IDA: Inferred from direct assay
|
12475959 | GOA |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
11891802 | GOA |
| located in cytoplasmic vesicle |
IDA
IDA: Inferred from direct assay
|
15880641 | GOA |
| located in early endosome |
IDA
IDA: Inferred from direct assay
|
12475959 | GOA |
| located in extracellular vesicle |
IDA
IDA: Inferred from direct assay
|
27462458 | GOA |
| located in late endosome |
IDA
IDA: Inferred from direct assay
|
12475959 | GOA |
| located in late endosome membrane |
IDA
IDA: Inferred from direct assay
|
10751401 | GOA |
| located in lysosomal membrane |
IDA
IDA: Inferred from direct assay
|
10751401 | GOA |
| located in lysosome |
IDA
IDA: Inferred from direct assay
|
12475959 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
15880641 | GOA |
| part of paraferritin complex |
IDA
IDA: Inferred from direct assay
|
11842004 | GOA |
| located in perinuclear region of cytoplasm |
IDA
IDA: Inferred from direct assay
|
10751401 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
15792797 | GOA |
| located in plasma membrane |
IMP
IMP: Inferred from mutant phenotype
|
11891802 | GOA |
| located in recycling endosome |
IDA
IDA: Inferred from direct assay
|
15880641 | GOA |
| located in trans-Golgi network |
IDA
IDA: Inferred from direct assay
|
18776082 | GOA |
| located in vacuole |
IMP
IMP: Inferred from mutant phenotype
|
17932044 | GOA |
SLC11A2 Protein Structure
Nramp: Natural resistance-associated macrophage protein (90 - 473)
- 0
- 100
- 200
- 300
- 400
- 500
- 568 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
natural resistance-associated macrophage protein 2 |
|
SLC11A2 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
SLC11A2 | P49281 | NDFIP1 | Homo sapiens | Q9BT67 | 19706893 | |
|
Intra
|
SLC11A2 | P49281 | NEDD4L | Homo sapiens | Q96PU5 | 19706893 |
SLC11A2 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P84933 | DMT1 Antibody (YA4629) | WB, IHC-P, FC | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
|
| Hypochromic Microcytic Anemia |
|
|
| Microcytic Anemia |
|
|
| Iron Deficiency Anemia |
|
|
| Hemochromatosis, Type 1 |
|
|
| Iron Metabolism Disease |
|
|
| Hemosiderosis |
|
|
| Deficiency Anemia |
|
|
| Restless Legs Syndrome |
|
|
| Hemochromatosis, Type 4 |
|
|
| Metal Metabolism Disorder |
|
|
| Atransferrinemia |
|
|
| Anemia, Sideroblastic, 1 |
|
|
| Iron Overload In Africa |
|
|
| Hemochromatosis Type 2 |
|
|
| Hemochromatosis, Type 3 |
|
|
| Neurodegeneration With Brain Iron Accumulation 3 |
|
|
| Hyperferritinemia With Or Without Cataract |
|
|
| Neurodegeneration With Brain Iron Accumulation 1 |
|
|
| Menkes Disease |
|
|
| Nutritional Deficiency Disease |
|
|
| Erythrocytosis, Familial, 2 |
|
|
| Beta-Thalassemia Major |
|
|
| Aceruloplasminemia |
|
|
| Retinal Degeneration |
|
|
| Neurodegeneration With Brain Iron Accumulation |
|
|
| Parkinson Disease, Late-Onset |
|
|
| Alzheimer Disease, Familial, 1 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | SLC11A2 | MGD | MGI:1345279 |
| Macaca mulatta | SLC11A2 | VGNC | VGNC:77383 |
| Rattus norvegicus | SLC11A2 | RGD | RGD:3684 |
| Canis familiaris | SLC11A2 | VGNC | VGNC:46217 |
| Felis catus | SLC11A2 | VGNC | VGNC:65187 |
| Others | SLC11A2 | NCBI |