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Aliases for SLC11A2 Gene

Aliases for SLC11A2 Gene

  • Solute Carrier Family 11 (Proton-Coupled Divalent Metal Ion Transporter), Member 2 2 3
  • NRAMP2 3 4 6
  • Solute Carrier Family 11 Member 2 3 4
  • Divalent Cation Transporter 1 3 4
  • NRAMP 2 3 4
  • DMT-1 3 4
  • Dct1 3 4
  • DMT1 3 4
  • Solute Carrier Family 11 (Proton-Coupled Divalent Metal Ion Transporters), Member 2 3
  • Natural Resistance-Associated Macrophage Protein 2 3
  • Divalent Metal Transporter 1 4

External Ids for SLC11A2 Gene

Previous HGNC Symbols for SLC11A2 Gene

  • NRAMP2

Previous GeneCards Identifiers for SLC11A2 Gene

  • GC12M051596
  • GC12M051458
  • GC12M051090
  • GC12M049659
  • GC12M049661
  • GC12M051375
  • GC12M048405

Summaries for SLC11A2 Gene

Entrez Gene Summary for SLC11A2 Gene

  • 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]

GeneCards Summary for SLC11A2 Gene

SLC11A2 (Solute Carrier Family 11 (Proton-Coupled Divalent Metal Ion Transporter), Member 2) is a Protein Coding gene. Diseases associated with SLC11A2 include anemia, hypochromic microcytic and hypochromic microcytic anemia with iron overload. Among its related pathways are Lysosome and HIF-2-alpha transcription factor network. GO annotations related to this gene include hydrogen ion transmembrane transporter activity and copper ion transmembrane transporter activity. An important paralog of this gene is SLC11A1.

UniProtKB/Swiss-Prot for SLC11A2 Gene

  • 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. May serve to import iron into the mitochondria.

Gene Wiki entry for SLC11A2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC11A2 Gene

Genomics for SLC11A2 Gene

Regulatory Elements for SLC11A2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SLC11A2 Gene

Start:
50,979,401 bp from pter
End:
51,028,566 bp from pter
Size:
49,166 bases
Orientation:
Minus strand

Genomic View for SLC11A2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC11A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC11A2 Gene

Proteins for SLC11A2 Gene

  • Protein details for SLC11A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49281-NRAM2_HUMAN
    Recommended name:
    Natural resistance-associated macrophage protein 2
    Protein Accession:
    P49281
    Secondary Accessions:
    • B3KT08
    • B4DK84
    • F5H741
    • O43288
    • O60932
    • O94801
    • Q498Z5
    • Q8IUD7
    • Q96J35

    Protein attributes for SLC11A2 Gene

    Size:
    568 amino acids
    Molecular mass:
    62266 Da
    Quaternary structure:
    • Forms a complex with NDFIP1 and NEDD4L, in cortical neurons, in response to iron and colbalt exposure; this interaction leads to ubiquitination by NEDD4L and proteasome-dependent degradation. Interacts with NDFIP2. Interacts with COX2 and TOM6 at the outer mitochondrion membrane.
    Miscellaneous:
    • NRAMP2-mediated iron uptake is markedly stimulated by nifedipine in a concentration-dependent manner
    SequenceCaution:
    • Sequence=AAH02592.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA34374.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC11A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC11A2 Gene

Proteomics data for SLC11A2 Gene at MOPED

Post-translational modifications for SLC11A2 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SLC11A2 (SLC11A2)

No data available for DME Specific Peptides for SLC11A2 Gene

Domains for SLC11A2 Gene

Gene Families for SLC11A2 Gene

Protein Domains for SLC11A2 Gene

Graphical View of Domain Structure for InterPro Entry

P49281

UniProtKB/Swiss-Prot:

NRAM2_HUMAN :
  • P49281
Family:
  • Belongs to the NRAMP family.
genes like me logo Genes that share domains with SLC11A2: view

Function for SLC11A2 Gene

Molecular function for SLC11A2 Gene

GENATLAS Biochemistry: solute carrier family 11,member A2,proton-coupled divalent metal ion transporter family,natural resistance associated macrophage protein 2,61.5kDa,ubiquitously expressed
UniProtKB/Swiss-Prot BiophysicochemicalProperties: pH dependence: Optimum pH is 5.5-6.5 for Fe(2+) uptake. {ECO:0000269 PubMed:17293870};
UniProtKB/Swiss-Prot 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. May serve to import iron into the mitochondria.

Gene Ontology (GO) - Molecular Function for SLC11A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity --
GO:0005375 copper ion transmembrane transporter activity IDA 12734107
GO:0005381 iron ion transmembrane transporter activity --
GO:0005384 manganese ion transmembrane transporter activity IDA 17109629
GO:0005385 NOT zinc ion transmembrane transporter activity IDA 17109629
genes like me logo Genes that share ontologies with SLC11A2: view
genes like me logo Genes that share phenotypes with SLC11A2: view

Animal Models for SLC11A2 Gene

MGI Knock Outs for SLC11A2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC11A2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SLC11A2 Gene

Localization for SLC11A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC11A2 Gene

Isoform 2: Cell membrane; Multi-pass membrane protein. Early endosome.
Endosome membrane; Multi-pass membrane protein. Mitochondrion outer membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC11A2 Gene COMPARTMENTS Subcellular localization image for SLC11A2 gene
Compartment Confidence
endosome 5
lysosome 5
nucleus 5
plasma membrane 5
vacuole 5
cytosol 2
peroxisome 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SLC11A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 15880641
GO:0005737 cytoplasm IDA 11891802
GO:0005741 mitochondrial outer membrane IEA --
GO:0005764 lysosome IDA 12475959
GO:0005765 lysosomal membrane IDA 10751401
genes like me logo Genes that share ontologies with SLC11A2: view

Pathways for SLC11A2 Gene

genes like me logo Genes that share pathways with SLC11A2: view

Gene Ontology (GO) - Biological Process for SLC11A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000041 transition metal ion transport --
GO:0001666 response to hypoxia IEP 18419598
GO:0003032 NOT detection of oxygen IEP 18419598
GO:0006778 porphyrin-containing compound metabolic process --
GO:0006779 porphyrin-containing compound biosynthetic process --
genes like me logo Genes that share ontologies with SLC11A2: view

Compounds for SLC11A2 Gene

(1) HMDB Compounds for SLC11A2 Gene

Compound Synonyms Cas Number PubMed IDs
Iron
  • Armco iron
7439-89-6

(18) Novoseek inferred chemical compound relationships for SLC11A2 Gene

Compound -log(P) Hits PubMed IDs
iron 87.6 307
fe2+ 63.3 6
fe3+ 55.6 4
copper 47.5 15
manganese 45.8 5
genes like me logo Genes that share compounds with SLC11A2: view

Transcripts for SLC11A2 Gene

Unigene Clusters for SLC11A2 Gene

Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC11A2

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC11A2 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c · 8d · 8e · 8f ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14a ·
SP1: - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - - -
SP4: - - - - - -
SP5: - - - - -
SP6:
SP7: -
SP8: - - - - - - - -
SP9: - -
SP10: - - -
SP11:
SP12: -
SP13:
SP14:

ExUns: 14b ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20a · 20b · 20c · 20d ^ 21a · 21b · 21c ^ 22
SP1: - - - - -
SP2: - - - -
SP3: - -
SP4: - -
SP5: - -
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: -

Relevant External Links for SLC11A2 Gene

GeneLoc Exon Structure for
SLC11A2
ECgene alternative splicing isoforms for
SLC11A2

Expression for SLC11A2 Gene

mRNA expression in normal human tissues for SLC11A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SLC11A2 Gene

SOURCE GeneReport for Unigene cluster for SLC11A2 Gene Hs.505545

mRNA Expression by UniProt/SwissProt for SLC11A2 Gene

P49281-NRAM2_HUMAN
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.
genes like me logo Genes that share expressions with SLC11A2: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for SLC11A2 Gene

Orthologs for SLC11A2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC11A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC11A2 35
  • 99.77 (n)
  • 99.83 (a)
SLC11A2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 86 (a)
OneToMany
SLC11A2 35
  • 90.73 (n)
  • 93.4 (a)
SLC11A2 36
  • 93 (a)
OneToMany
SLC11A2 36
  • 82 (a)
OneToMany
dog
(Canis familiaris)
Mammalia SLC11A2 35
  • 90.77 (n)
  • 91.55 (a)
SLC11A2 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc11a2 35
  • 87.76 (n)
  • 90.91 (a)
Slc11a2 16
Slc11a2 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC11A2 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC11A2 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc11a2 35
  • 87.74 (n)
  • 89.83 (a)
lizard
(Anolis carolinensis)
Reptilia SLC11A2 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc11a2 35
  • 73.02 (n)
  • 79.63 (a)
zebrafish
(Danio rerio)
Actinopterygii slc11a2 35
slc11a2 35
  • 71.06 (n)
  • 77.91 (a)
slc11a2 36
  • 72 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012464 35
  • 56.57 (n)
  • 57.73 (a)
fruit fly
(Drosophila melanogaster)
Insecta Mvl 35
  • 62.96 (n)
  • 64.24 (a)
Mvl 36
  • 50 (a)
OneToMany
Mvl 37
  • 64 (a)
worm
(Caenorhabditis elegans)
Secernentea smf-1 35
  • 58.28 (n)
  • 58.84 (a)
smf-1 36
  • 51 (a)
ManyToMany
smf-2 36
  • 50 (a)
ManyToMany
smf-3 36
  • 49 (a)
ManyToMany
smf-1 37
  • 60 (a)
smf-2 37
  • 56 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SMF1 36
  • 26 (a)
ManyToMany
SMF1 38
SMF2 36
  • 27 (a)
ManyToMany
SMF3 36
  • 29 (a)
ManyToMany
soybean
(Glycine max)
eudicotyledons Gma.470 35
thale cress
(Arabidopsis thaliana)
eudicotyledons NRAMP5 35
  • 56.71 (n)
  • 51.42 (a)
rice
(Oryza sativa)
Liliopsida Os12g0581600 35
  • 57.99 (n)
  • 55.72 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11465 35
Species with no ortholog for SLC11A2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC11A2 Gene

ENSEMBL:
Gene Tree for SLC11A2 (if available)
TreeFam:
Gene Tree for SLC11A2 (if available)

Paralogs for SLC11A2 Gene

Paralogs for SLC11A2 Gene

genes like me logo Genes that share paralogs with SLC11A2: view

Variants for SLC11A2 Gene

Sequence variations from dbSNP and Humsavar for SLC11A2 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs12480 -- 50,986,982(-) GATTT(G/T)GTGAG utr-variant-3-prime, intron-variant, nc-transcript-variant
rs15897 -- 50,981,140(-) ACACA(C/T)CATTT utr-variant-3-prime, intron-variant
rs149411 -- 50,986,449(-) AGTTA(C/T)ATTTA utr-variant-3-prime, intron-variant, nc-transcript-variant
rs150909 -- 50,987,294(+) TGCAA(C/T)GGTTA utr-variant-3-prime, intron-variant, nc-transcript-variant
rs150910 -- 50,997,489(-) cctgg(C/G)ctcaa intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC11A2 Gene

Variant ID Type Subtype PubMed ID
esv34039 CNV Loss 18971310
esv2660448 CNV Deletion 23128226

Relevant External Links for SLC11A2 Gene

HapMap Linkage Disequilibrium report
SLC11A2
Human Gene Mutation Database (HGMD)
SLC11A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC11A2 Gene

Disorders for SLC11A2 Gene

(1) OMIM Diseases for SLC11A2 Gene (600523)

UniProtKB/Swiss-Prot

NRAM2_HUMAN
  • 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:0000269 PubMed:15459009, ECO:0000269 PubMed:16160008, ECO:0000269 PubMed:16439678}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for SLC11A2 Gene

(20) Novoseek inferred disease relationships for SLC11A2 Gene

Disease -log(P) Hits PubMed IDs
microcytic anemia 86.8 15
hereditary hemochromatosis 84.8 12
iron overload 81.3 29
anemia, hypochromic microcytic 79.4 8
hemochromatosis 78 18

Relevant External Links for SLC11A2

Genetic Association Database (GAD)
SLC11A2
Human Genome Epidemiology (HuGE) Navigator
SLC11A2
genes like me logo Genes that share disorders with SLC11A2: view

Publications for SLC11A2 Gene

  1. The human Nramp2 gene: characterization of the gene structure, alternative splicing, promoter region and polymorphisms. (PMID: 9642100) Lee P.L. … Beutler E. (Blood Cells Mol. Dis. 1998) 3 4 23
  2. Previously uncharacterized isoforms of divalent metal transporter (DMT)-1: implications for regulation and cellular function. (PMID: 12209011) Hubert N. … Hentze M.W. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 4 23
  3. Alternative splicing regulates the subcellular localization of divalent metal transporter 1 isoforms. (PMID: 12475959) Tabuchi M. … Kishi F. (Mol. Biol. Cell 2002) 3 4 23
  4. Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload. (PMID: 15459009) Mims M.P. … Prchal J.T. (Blood 2005) 3 4 23
  5. SLC11A1 (NRAMP1) but not SLC11A2 (NRAMP2) polymorphisms are associated with susceptibility to tuberculosis in a high-incidence community in South Africa. (PMID: 15636493) Hoal E.G. … Van Helden P.D. (Int. J. Tuberc. Lung Dis. 2004) 3 23 48

Products for SLC11A2 Gene

Sources for SLC11A2 Gene

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