SLC11A2 - solute carrier family 11 member 2 Gene

Also Known as DCT1; DMT1; AHMIO1; NRAMP2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4891

About SLC11A2

Cytogenetic location: 12q13.12 Genomic coordinates (GRCh38): 12:50,952,263-51,028,886 (from NCBI)

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
Molecular Function GO Annotation Evidence Verweise Source
enables cadmium ion binding IDA
IDA: Inferred from direct assay
25326704 GOA
enables cadmium ion transmembrane transporter activity IDA
IDA: Inferred from direct assay
12662899 GOA
NOT enables calcium ion transmembrane transporter activity IDA
IDA: Inferred from direct assay
17109629 GOA
NOT enables chromium ion transmembrane transporter activity IDA
IDA: Inferred from direct assay
17109629 GOA
enables cobalt ion transmembrane transporter activity IDA
IDA: Inferred from direct assay
17109629 GOA
enables copper ion transmembrane transporter activity IDA
IDA: Inferred from direct assay
12734107 GOA
enables ferrous iron transmembrane transporter activity IDA
IDA: Inferred from direct assay
12734107 GOA
enables ferrous iron transmembrane transporter activity IMP
IMP: Inferred from mutant phenotype
25491917 GOA
enables inorganic cation transmembrane transporter activity IGI
IGI: Inferred from genetic interaction
12475959 GOA
enables lead ion transmembrane transporter activity IDA
IDA: Inferred from direct assay
12127992 GOA
enables manganese ion transmembrane transporter activity IDA
IDA: Inferred from direct assay
17109629 GOA
enables nickel cation transmembrane transporter activity IDA
IDA: Inferred from direct assay
17109629 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
15880641 GOA
enables retromer complex binding IDA
IDA: Inferred from direct assay
20164305 GOA
enables solute:proton symporter activity IDA
IDA: Inferred from direct assay
17109629 GOA
enables transition metal ion transmembrane transporter activity IDA
IDA: Inferred from direct assay
25326704 GOA
enables vanadium ion transmembrane transporter activity IDA
IDA: Inferred from direct assay
17109629 GOA
NOT enables zinc ion transmembrane transporter activity IDA
IDA: Inferred from direct assay
17109629 GOA
enables zinc ion transmembrane transporter activity IDA
IDA: Inferred from direct assay
17109629 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in activation of cysteine-type endopeptidase activity involved in apoptotic process IDA
IDA: Inferred from direct assay
18082289 GOA
involved in cadmium ion transmembrane transport IDA
IDA: Inferred from direct assay
12662899 GOA
involved in cellular response to oxidative stress IDA
IDA: Inferred from direct assay
18082289 GOA
involved in cobalt ion transport IDA
IDA: Inferred from direct assay
17109629 GOA
involved in copper ion transport IDA
IDA: Inferred from direct assay
12734107 GOA
NOT involved in detection of oxygen IEP
IEP: Inferred from expression pattern
18419598 GOA
involved in detection of oxygen IEP
IEP: Inferred from expression pattern
18419598 GOA
involved in iron import into cell IDA
IDA: Inferred from direct assay
17109629 GOA
involved in iron ion transmembrane transport IDA
IDA: Inferred from direct assay
17293870 GOA
involved in iron ion transport IDA
IDA: Inferred from direct assay
12734107 GOA
involved in lead ion transport IDA
IDA: Inferred from direct assay
12127992 GOA
involved in manganese ion transport IDA
IDA: Inferred from direct assay
17109629 GOA
involved in multicellular organismal-level iron ion homeostasis IMP
IMP: Inferred from mutant phenotype
15459009 GOA
involved in nickel cation transport IDA
IDA: Inferred from direct assay
17109629 GOA
involved in response to hypoxia IEP
IEP: Inferred from expression pattern
18419598 GOA
NOT involved in response to iron ion IEP
IEP: Inferred from expression pattern
15792797 GOA
involved in response to iron ion IEP
IEP: Inferred from expression pattern
12209011 GOA
involved in vanadium ion transport IDA
IDA: Inferred from direct assay
17109629 GOA
Cellular Component GO Annotation Evidence Verweise 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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC11A2 Protein Structure

Nramp

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

  • DMT-1

SLC11A2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
SLC11A2 P49281 NDFIP1 Homo sapiens Q9BT67 19706893
Intra
SLC11A2 P49281 NEDD4L Homo sapiens Q96PU5 19706893
Cross: Cross-species interaction Intra: Intraspecies interaction

SLC11A2 Antibodies

Art. -Nr. Produktname Anwendung Reactivity
HY-P84933 DMT1 Antibody (YA4629) WB, IHC-P, FC Human

Related Diseases

Diseases Alias
Anemia, Hypochromic Microcytic, With Iron Overload 1
  • Microcytic Anemia With Liver Iron Overload

  • AHMIO1

  • Hypochromic Microcytic Anemia With Iron Overload

  • Microcytic Anemia And Hepatic Iron Overload

  • Hypochromic Microcytic Anemia

  • Anemia, Hypochromic Microcytic With Iron Overload

  • Microcytic Hypochromic Anemia

Hypochromic Microcytic Anemia
  • Anemia, Hypochromic Microcytic

  • Microcytic Hypochromic Anemia

Microcytic Anemia
  • Iron-Refractory Iron Deficiency Anemia

Iron Deficiency Anemia
  • Iron-Deficiency Anemia

  • Fe Deficiency Anaemia

  • Ida - [Iron Deficiency Anemia]

  • Fe - [Iron] Deficiency Anemia Nos

Hemochromatosis, Type 1
  • Hemochromatosis

  • Hemochromatosis Type 1

  • Hereditary Hemochromatosis

  • Hh

  • HFE1

  • Hfe Hemochromatosis, Modifier Of

  • Symptomatic Form Of Classic Hemochromatosis

  • Symptomatic Form Of Hemochromatosis Type 1

  • Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis

  • Haemochromatosis

  • Iron Storage Disorder

  • Bronze Diabetes

  • Hereditary Haemochromatosis

  • Hlah

  • Hfe

  • Hemochromatosis, Hereditary

  • Diabetes Bronze

  • Classic Hemochromatosis

  • Hfe-Associated Hereditary Hemochromatosis

  • Hemochromatosis Classic

  • Bronzed Cirrhosis

  • Familial Hemochromatosis

  • Genetic Hemochromatosis

  • Hc

  • Pigmentary Cirrhosis

  • Primary Hemochromatosis

  • Troisier-Hanot-Chauffard Syndrome

  • Von Recklenhausen-Applebaum Disease

  • Hemochromatosis 1

  • Primary Hereditary Hemochromatosis

  • Bronze Cirrhosis

Iron Metabolism Disease
  • Iron Deficiency

  • Iron Disorder

  • Iron Metabolism Disorders

  • Disorder Of Iron Metabolism

  • Iron

  • Fe Deficiency

  • Iron Storage Disease

  • Iron Storage Disorder

Hemosiderosis
  • Haemosiderosis

  • Iron Overload

Deficiency Anemia
  • Anemia

  • Deficiency Anemias

  • Anaemia

Restless Legs Syndrome
  • Wed

  • Willis-Ekbom Disease

  • Restless Leg Syndrome

  • Ekbom Syndrome

  • Wittmaack-Ekbom Syndrome

  • Willis Ekbom Disease

  • Ekbom'S Syndrome

  • Rls

  • Restless Legs

  • Restless Legs Syndrome, Susceptibility To

Hemochromatosis, Type 4
  • Hemochromatosis Type 4

  • Hemochromatosis Due To Defect In Ferroportin

  • HFE4

  • Hemochromatosis, Autosomal Dominant

  • Autosomal Dominant Hereditary Hemochromatosis

  • Ferroportin Disease

  • Hemochromatosis 4

  • Hemochromatosis Autosomal Dominant

Metal Metabolism Disorder
  • Metal Metabolism, Inborn Errors

  • Inborn Metal Metabolism Disorder

Atransferrinemia
  • Familial Hypotransferrinemia

  • Congenital Atransferrinemia

  • Hypotransferrinemia, Familial

  • Congenital Hypotransferrinemia

  • ATRAF

Anemia, Sideroblastic, 1
  • Xlsa

  • X-Linked Sideroblastic Anemia

  • Hypochromic Anemia

  • Anh1

  • Hereditary Iron-Loading Anemia

  • Anemia, Sideroblastic, X-Linked

  • Anemia, Hereditary Sideroblastic

  • Erythroid 5-Aminolevulinate Synthase Deficiency

  • Hereditary Sideroblastic Anemia

  • SIDBA1

  • Anemia, Hypochromic

  • Sideroblastic Anemia 1

  • Anemia Hypochromic

  • X Chromosome-Linked Sideroblastic Anemia

  • Sideroblastic Anaemia 1

  • X-Linked Sideroblastic Anaemia

  • Anemia Hereditary Sideroblastic

  • Anemia Sex-Linked Hypochromic Sideroblastic

  • Congenital Sideroblastic Anemia

  • Sideroblastic Anemia X-Linked

  • Anemia, Sex-Linked Hypochromic Sideroblastic

  • Congenital Sideroblastic Anaemia

  • X-Linked Pyridoxine-Responsive Sideroblastic Anemia

  • Anemia Congenital Sideroblastic

  • Anemia, Sideroblastic, Type 1

  • Sex-Linked Hypochromic Sideroblastic Anaemia

  • Autosomal Recessive Sideroblastic Anaemia

  • Familial Sex Linked Hypochromic Anaemia

Iron Overload In Africa
  • African Iron Overload

  • Bantu Siderosis

  • African Hemochromatosis

  • Hereditary Iron Overload And African Americans

  • African Nutritional Hemochromatosis

  • African Siderosis

Hemochromatosis Type 2
  • Juvenile Hemochromatosis

  • Juvenile Hereditary Hemochromatosis

  • Hfe2

  • Jhh

  • Hemochromatosis Juvenile

  • Iron Overload Disease Juvenile

  • Hemochromatosis, Juvenile

  • Hemochromatosis, Type 2

  • Hemochromatosis

  • Hemochromatosis, Type 1

Hemochromatosis, Type 3
  • Hemochromatosis Type 3

  • HFE3

  • Hemochromatosis Due To Defect In Transferrin Receptor 2

  • Tfr2-Related Hemochromatosis

  • Tfr2-Related Hereditary Hemochromatosis

  • Hemochromatosis 3

Neurodegeneration With Brain Iron Accumulation 3
  • Neuroferritinopathy

  • NBIA3

  • Ferritin-Related Neurodegeneration

  • Hereditary Ferritinopathy

  • Basal Ganglia Disease, Adult-Onset

  • Adult Basal Ganglia Disease

  • Neuroferritinopathy

  • Basal Ganglia Disease, Adult-Onset

  • Basal Ganglia Disease Adult-Onset

  • Adult-Onset Basal Ganglia Disease

  • Neurodegeneration, With Brain Iron Accumulation, Type 3

Hyperferritinemia With Or Without Cataract
  • Hyperferritinemia-Cataract Syndrome

  • Hhcs

  • Hereditary Hyperferritinemia With Congenital Cataracts

  • Hyperferritinemia, Hereditary, With Congenital Cataracts

  • Bonneau-Beaumont Syndrome

  • HRFTC

  • Hereditary Hyperferritinemia-Cataract Syndrome

  • Cataract-Hyperferritinemia Syndrome

  • Hyperferritinemia Cataract Syndrome

  • Hereditary Hyperferritinemia Cataract Syndrome

Neurodegeneration With Brain Iron Accumulation 1
  • Pantothenate Kinase-Associated Neurodegeneration

  • Pkan

  • NBIA1

  • Hallervorden-Spatz Disease

  • Hallervorden-Spatz Syndrome

  • Pigmentary Pallidal Degeneration

  • Neuroaxonal Dystrophy, Late Infantile

  • Neurodegeneration With Brain Iron Accumulation Type 1

  • Classic Pantothenate Kinase-Associated Neurodegeneration

  • Pkan Neuroaxonal Dystrophy, Juvenile-Onset

  • Brain Iron Accumulation Type I Syndrome

  • Nbia

  • Neurodegeneration With Brain Iron Accumulation

  • Nbia1, Classic Form

  • Neurodegeneration With Brain Iron Accumulation Type 1, Classic Form

  • Pkan, Classic Form

  • Atypical Pantothenate Kinase-Associated Neurodegeneration

  • Nbia1, Atypical Form

  • Neurodegeneration With Brain Iron Accumulation Type 1, Atypical Form

  • Pkan, Atypical Form

  • Hss

  • Pkan Neuroaxonal Dystrophy Juvenile-Onset

  • Neurodegeneration, With Brain Iron Accumulation, Type 1

Menkes Disease
  • Copper Transport Disease

  • Menkes Syndrome

  • MNK

  • Kinky Hair Disease

  • Steely Hair Disease

  • Menkes Kinky-Hair Syndrome

  • Mk

  • Steely Hair Syndrome

  • Menkea Syndrome

  • Md

  • Menkes Kinky Hair Syndrome

  • Hypocupremia, Congenital

  • Kinky Hair Syndrome

  • X-Linked Copper Deficiency

  • Menkes Kinky Hair Disease

Nutritional Deficiency Disease
  • Malnutrition

  • Nutritional Disorder

  • Nutritional Deficiency

  • Nutrition

  • Deficiency Diseases

  • Carbamoyl-Phosphate Synthase I Deficiency Disease

  • Nutrition Disorders

Erythrocytosis, Familial, 2
  • Chuvash Polycythemia

  • ECYT2

  • Familial Erythrocytosis 2

  • Autosomal Recessive Benign Erythrocytosis

  • Polycythemia, Vhl-Dependent

  • Chuvash Erythromatosis

  • Chuvash Type Polycythemia

  • Chuvash Erythrocytosis

  • Von Hippel-Lindau-Dependent Polycythemia

  • Polycythemia Chuvash Type

  • Vhl-Dependent Polycythemia

  • Erythrocytosis, Familial, Type 2

Beta-Thalassemia Major
  • Cooley'S Anemia

  • Cooley Anemia

  • Mediterranean Anemia

Aceruloplasminemia
  • Cerebellar Ataxia

  • Hypoceruloplasminemia

  • Hemosiderosis, Systemic, Due To Aceruloplasminemia

  • Familial Apoceruloplasmin Deficiency

  • Hereditary Ceruloplasmin Deficiency

  • Deficiency Of Ferroxidase

  • Hypoceruloplasminemia, Hereditary

  • Ceruloplasmin Deficiency

  • Systemic Hemosiderosis Due To Aceruloplasminemia

  • ACERULOP

Retinal Degeneration
  • Degeneration Of Retina

Neurodegeneration With Brain Iron Accumulation
  • Nbia

  • Neurodegeneration With Brain Iron Accumulation Disorders

  • Neurodegeneration, With Brain Iron Accumulation

Parkinson Disease, Late-Onset
  • Parkinson Disease

  • Parkinson'S Disease

  • PD

  • PARK

  • Parkinson Disease, Susceptibility To

  • Late Onset Parkinson'S Disease

  • Late Onset Parkinson Disease

  • Paralysis Agitans

  • Primary Parkinsonism

  • Idiopathic Parkinson Disease

  • Parkinson'S

  • Parkinson Disease, Late-Onset, Susceptibility To

  • Parkinson Disease, Age Of Onset, Modifier

  • Lewy Body Parkinson Disease

  • Idiopathic Parkinson'S Disease

  • Pd - [Parkinson Disease]

  • Parkinson Disease Nos

  • Parkinson, Nos

  • Primary Parkinson Disease

Alzheimer Disease, Familial, 1
  • Alzheimer Disease

  • Alzheimer'S Disease

  • Presenile And Senile Dementia

  • AD1

  • Alzheimer Disease, Susceptibility To

  • Alzheimer Disease, Late-Onset, Susceptibility To

  • Alzheimer Disease 1, Familial

  • AD

  • Familial Alzheimer Disease

  • Alzheimer Disease, Late-Onset

  • Alzheimers Dementia

  • Alzheimer Dementia

  • Alzheimer Sclerosis

  • Alzheimer Syndrome

  • Alzheimer-Type Dementia

  • Dat

  • Primary Senile Degenerative Dementia

  • Sdat

  • Alzheimer Disease 1

  • Autosomal Dominant Alzheimer Disease

  • Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

  • Late Onset Alzheimer Disease

  • Alzheimers Disease

  • Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

  • Late-Onset Alzheimers Disease

  • Alzheimer'S Disease Pathway Kegg

  • Dementia Due To Alzheimer'S Disease

  • Alzheimer Disease Type 1

  • Alzheimers

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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