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Aliases for SLC11A2 Gene

Aliases for SLC11A2 Gene

  • Solute Carrier Family 11 Member 2 2 3 4
  • Solute Carrier Family 11 (Proton-Coupled Divalent Metal Ion Transporter), Member 2 2 3 5
  • Divalent Cation Transporter 1 3 4
  • NRAMP 2 3 4
  • NRAMP2 3 4
  • DMT-1 3 4
  • DMT1 3 4
  • DCT1 3 4
  • Solute Carrier Family 11 (Proton-Coupled Divalent Metal Ion Transporters), Member 2 3
  • Divalent Metal Transporter 1 4
  • AHMIO1 3

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 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 Glucose / Energy Metabolism and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include transporter activity and copper ion binding. 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

Enhancers for SLC11A2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SLC11A2 on UCSC Golden Path with GeneCards custom track

Promoters for SLC11A2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SLC11A2 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC11A2 Gene

Chromosome:
12
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

Genes around SLC11A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC11A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 & Families 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 :
  • Belongs to the NRAMP family.
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:0005385 NOT zinc ion transmembrane transporter activity IDA 17109629
GO:0015078 hydrogen ion transmembrane transporter activity IEA --
GO:0022890 inorganic cation transmembrane transporter activity IGI 12475959
genes like me logo Genes that share ontologies with SLC11A2: view
genes like me logo Genes that share phenotypes with SLC11A2: view

Human Phenotype Ontology for SLC11A2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC11A2 Gene

MGI Knock Outs for SLC11A2:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC11A2

CRISPR Products

miRNA for SLC11A2 Gene

miRTarBase miRNAs that target SLC11A2

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
golgi apparatus 5
lysosome 5
nucleus 5
plasma membrane 5
vacuole 5
mitochondrion 3
peroxisome 2
cytosol 1

Gene Ontology (GO) - Cellular Components for SLC11A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 11891802
GO:0005765 lysosomal membrane IDA 10751401
GO:0005769 early endosome IEA,IDA 12475959
GO:0016324 apical plasma membrane IDA 12475959
GO:0030904 colocalizes_with retromer complex IDA 20164305
genes like me logo Genes that share ontologies with SLC11A2: view

Pathways & Interactions 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:0001666 response to hypoxia IEP 18419598
GO:0003032 NOT detection of oxygen IEP 18419598
GO:0006778 porphyrin-containing compound metabolic process IEA --
GO:0006783 heme biosynthetic process IEA --
GO:0006825 copper ion transport IDA 12734107
genes like me logo Genes that share ontologies with SLC11A2: view

No data available for SIGNOR curated interactions for SLC11A2 Gene

Drugs & Compounds for SLC11A2 Gene

(9) Drugs for SLC11A2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(9) Additional Compounds for SLC11A2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
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:

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

Protein differential expression in normal tissues from HIPED for SLC11A2 Gene

This gene is overexpressed in Testis (31.1), Placenta (26.2), and Spinal cord (11.7).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with SLC11A2: view

Protein tissue co-expression partners for SLC11A2 Gene

Primer 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
cow
(Bos Taurus)
Mammalia SLC11A2 35
  • 90.73 (n)
  • 93.4 (a)
-- 36
  • 86 (a)
OneToMany
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
chimpanzee
(Pan troglodytes)
Mammalia SLC11A2 35
  • 99.77 (n)
  • 99.83 (a)
SLC11A2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc11a2 35
  • 87.74 (n)
  • 89.83 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC11A2 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC11A2 36
  • 90 (a)
OneToOne
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
fruit fly
(Drosophila melanogaster)
Insecta Mvl 37
  • 64 (a)
Mvl 35
  • 62.96 (n)
  • 64.24 (a)
Mvl 36
  • 50 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012464 35
  • 56.57 (n)
  • 57.73 (a)
worm
(Caenorhabditis elegans)
Secernentea smf-1 37
  • 60 (a)
smf-2 37
  • 56 (a)
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
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SMF1 36
  • 26 (a)
ManyToMany
SMF2 36
  • 27 (a)
ManyToMany
SMF3 36
  • 29 (a)
ManyToMany
SMF1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons NRAMP5 35
  • 56.71 (n)
  • 51.42 (a)
soybean
(Glycine max)
eudicotyledons Gma.470 35
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
rs144863268 - 50,992,234(+) TGTTA(G/T)ATGCT nc-transcript-variant, reference, missense
VAR_033012 Anemia, hypochromic microcytic, with iron overload 1 (AHMIO1)
VAR_033013 Anemia, hypochromic microcytic, with iron overload 1 (AHMIO1)
VAR_033014 Anemia, hypochromic microcytic, with iron overload 1 (AHMIO1)
VAR_036434 A colorectal cancer sample

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

Variation tolerance for SLC11A2 Gene

Residual Variation Intolerance Score: 30.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.56; 44.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC11A2 Gene

Human Gene Mutation Database (HGMD)
SLC11A2

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

Disorders for SLC11A2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for SLC11A2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
anemia, hypochromic microcytic
  • hypochromic microcytic anemia
hypochromic microcytic anemia with iron overload
  • ahmio1
dementia, familial, nonspecific
  • frontotemporal dementia, chromosome 3-linked
amyotrophic lateral sclerosis 17
  • amyotrophic lateral sclerosis type 17
microcytic anemia
  • iron-refractory iron deficiency anemia
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for SLC11A2

Genetic Association Database (GAD)
SLC11A2
Human Genome Epidemiology (HuGE) Navigator
SLC11A2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC11A2
genes like me logo Genes that share disorders with SLC11A2: view

No data available for Genatlas for SLC11A2 Gene

Publications for SLC11A2 Gene

  1. Cloning and characterization of a second human NRAMP gene on chromosome 12q13. (PMID: 7613023) Vidal S. … Gros P. (Mamm. Genome 1995) 2 3 4 67
  2. Parkin regulates metal transport via proteasomal degradation of the 1B isoforms of divalent metal transporter 1. (PMID: 20089134) Roth J.A. … Paradkar P.N. (J. Neurochem. 2010) 3 23
  3. Divalent metal transporter 1 is involved in amyloid precursor protein processing and Abeta generation. (PMID: 19679638) Zheng W. … Wang Z.Y. (FASEB J. 2009) 3 23
  4. Divalent metal transporter 1 (DMT1) regulation by Ndfip1 prevents metal toxicity in human neurons. (PMID: 19706893) Howitt J. … Tan S.S. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 23
  5. Correlation between the expression of divalent metal transporter 1 and the content of hypoxia-inducible factor-1 in hypoxic HepG2 cells. (PMID: 18419598) Li Z. … Ming Q.Z. (J. Cell. Mol. Med. 2008) 3 23

Products for SLC11A2 Gene

Sources for SLC11A2 Gene

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