InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC11A2

Summary

InnateDB Protein

IDBP-600146.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SLC11A2

Protein Name

solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2

Synonyms

DCT1; DMT1; NRAMP2;

Species

Homo sapiens

Ensembl Protein

ENSP00000446769

InnateDB Gene

IDBG-32924 (SLC11A2)

Protein Structure

UniProt Annotation

Function

Important in metal transport, in particular iron. Can also transport manganese, cobalt, cadmium, nickel, vanadium and lead. Involved in apical iron uptake into duodenal enterocytes. Involved in iron transport from acidified endosomes into the cytoplasm of erythroid precursor cells. May play an important role in hepatic iron accumulation and tissue iron distribution. {ECO:0000269PubMed:17109629}.

Subcellular Localization

Endosome membrane {ECO:0000269PubMed:18776082}; Multi-pass membrane protein {ECO:0000269PubMed:18776082}.

Disease Associations

Anemia, hypochromic microcytic, with iron overload 1 (AHMIO1) [MIM:206100]: A hematologic disease characterized by abnormal hemoglobin content in the erythrocytes which are reduced in size. The disorder is due to an error of iron metabolism that results in high serum iron, massive hepatic iron deposition, and absence of sideroblasts and stainable bone marrow iron store. Despite adequate transferrin-iron complex, delivery of iron to the erythroid bone marrow is apparently insufficient for the demands of hemoglobin synthesis. {ECO:0000269PubMed:15459009, ECO:0000269PubMed:16160008, ECO:0000269PubMed:16439678}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitously expressed. Isoform 1 is highly expressed in brain. Isoform 2 is highly expressed in spleen, thymus and pancreas. Isoform 3 and isoform 4 are abundantly expressed in duodenum and kidney. {ECO:0000269PubMed:12209011, ECO:0000269PubMed:9642100}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.

Experimentally validated
Total	8 [view]
Protein-Protein	8 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005215	transporter activity
GO:0005375	copper ion transmembrane transporter activity
GO:0005384	manganese ion transmembrane transporter activity
GO:0005385	zinc ion transmembrane transporter activity
GO:0005515	protein binding
GO:0015086	cadmium ion transmembrane transporter activity
GO:0015087	cobalt ion transmembrane transporter activity
GO:0015093	ferrous iron transmembrane transporter activity
GO:0015094	lead ion transmembrane transporter activity
GO:0015099	nickel cation transmembrane transporter activity
GO:0015100	vanadium ion transmembrane transporter activity
GO:0015295	solute:proton symporter activity
GO:0022890	inorganic cation transmembrane transporter activity

Biological Process

GO:0001666	response to hypoxia
GO:0003032	detection of oxygen
GO:0006810	transport
GO:0006824	cobalt ion transport
GO:0006825	copper ion transport
GO:0006828	manganese ion transport
GO:0006879	cellular iron ion homeostasis
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0010039	response to iron ion
GO:0015675	nickel cation transport
GO:0015676	vanadium ion transport
GO:0015684	ferrous iron transport
GO:0015692	lead ion transport
GO:0034599	cellular response to oxidative stress
GO:0035444	nickel cation transmembrane transport
GO:0055085	transmembrane transport
GO:0060586	multicellular organismal iron ion homeostasis
GO:0070574	cadmium ion transmembrane transport
GO:0070627	ferrous iron import
GO:0071421	manganese ion transmembrane transport
GO:0071577	zinc ion transmembrane transport

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005764	lysosome
GO:0005765	lysosomal membrane
GO:0005769	early endosome
GO:0005770	late endosome
GO:0005773	vacuole
GO:0005802	trans-Golgi network
GO:0005886	plasma membrane
GO:0009986	cell surface
GO:0016020	membrane
GO:0016324	apical plasma membrane
GO:0031410	cytoplasmic vesicle
GO:0031902	late endosome membrane
GO:0045177	apical part of cell
GO:0045178	basal part of cell
GO:0048471	perinuclear region of cytoplasm
GO:0055037	recycling endosome
GO:0070826	paraferritin complex