1. Gene
  2. SLC11A2 - solute carrier family 11 member 2 Gene

SLC11A2 - solute carrier family 11 member 2 Gene

Homo sapiens

Also known as DCT1; DMT1; AHMIO1; NRAMP2

Gene ID: 4891 | Gene type: protein coding

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference 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 Reference 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 Reference 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 Reference
Intra
SLC11A2 P49281 NDFIP1 Homo sapiens Q9BT67 19706893
Intra
SLC11A2 P49281 NEDD4L Homo sapiens Q96PU5 19706893
Cross: Cross-species interaction Intra: Intraspecies interaction

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