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SLC11A2 Gene

protein-coding   GIFtS: 68
GCID: GC12M051375

Solute Carrier Family 11 (Proton-Coupled Divalent Metal...


(Previous symbol: NRAMP2)
  See SLC11A2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Solute Carrier Family 11 (Proton-Coupled Divalent Metal Ion
Transporter), Member 21 2
     DMT12 3
NRAMP21 2 3 5     NRAMP 22 3
Divalent Cation Transporter 12 3     Natural Resistance-Associated Macrophage Protein 22
Solute Carrier Family 11 Member 22 3     Solute Carrier Family 11 (Proton-Coupled Divalent Metal Ion Transporters),
Member 22
DCT12 3     Divalent Metal Transporter 13
DMT-12 3     

External Ids:    HGNC: 109081   Entrez Gene: 48912   Ensembl: ENSG000001109117   OMIM: 6005235   UniProtKB: P492813   

Export aliases for SLC11A2 gene to outside databases

Previous GC identifers: GC12M051596 GC12M051458 GC12M051090 GC12M049659 GC12M049661 GC12M048405


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 microcytic anemia, and hypochromic microcytic anemia with iron overload. 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: NRAM2_HUMAN, P49281
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

Gene Wiki entry for SLC11A2 (DMT1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC11A2 gene promoter:
         p53   NCX/Ncx   IRF-7A   RelA   NF-kappaB1   NF-kappaB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC11A2 promoter sequence
   Search Chromatin IP Primers for SLC11A2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC11A2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q13   Ensembl cytogenetic band:  12q13.12   HGNC cytogenetic band: 12q13

SLC11A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC11A2 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M051375:  view genomic region     (about GC identifiers)

Start:
51,373,184 bp from pter      End:
51,422,349 bp from pter
Size:
49,166 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: NRAM2_HUMAN, P49281 (See protein sequence)
Recommended Name: Natural resistance-associated macrophage protein 2  
Size: 568 amino acids; 62266 Da
Subunit: 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
Miscellaneous: NRAMP2-mediated iron uptake is markedly stimulated by nifedipine in a concentration-dependent
manner
Sequence caution: Sequence=AAH02592.1; Type=Erroneous initiation; Sequence=BAA34374.1; Type=Erroneous gene model
prediction;
Secondary accessions: B3KT08 B4DK84 F5H741 O43288 O60932 O94801 Q498Z5 Q8IUD7 Q96J35
Alternative splicing: 5 isoforms:  P49281-1   P49281-2   P49281-3   P49281-4   P49281-5   (No experimental confirmation available. Ref.6 (BAG59096/BAH14878) sequences are in conflict in position: 6:Y->S)

Explore the universe of human proteins at neXtProt for SLC11A2: NX_P49281

Explore proteomics data for SLC11A2 at MOPED

Post-translational modifications: 

  • Ubiquitinated by WWP2 (By similarity)1
  • Glycosylation2 at Asn336, Asn349
  • Modification sites at PhosphoSitePlus

  • See SLC11A2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (7 alternative transcripts): 
    NP_000608.1  NP_001167596.1  NP_001167597.1  NP_001167598.1  NP_001167599.1  NP_001167600.1  NP_001167601.1  

    ENSEMBL proteins: 
     ENSP00000450227   ENSP00000262051   ENSP00000449008   ENSP00000446769   ENSP00000262052  
     ENSP00000449200   ENSP00000444542   ENSP00000442810   ENSP00000446914   ENSP00000446653  
     ENSP00000450389   ENSP00000447482   ENSP00000446984   ENSP00000447102   ENSP00000447334  
     ENSP00000449209   ENSP00000448501   ENSP00000448273   ENSP00000378364  
    Reactome Protein details: P49281

    SLC11A2 Human Recombinant Protein Products:

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    Novus Biologicals SLC11A2 Proteins
    Novus Biologicals SLC11A2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for SLC11A2 

     
    antibodies-online proteins for SLC11A2 (3 products) 

     
    antibodies-online peptides for SLC11A2

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    antibodies-online antibodies for SLC11A2 (61 products) 

    SLC11A2 Assay Products:

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    Browse ELISAs at Cloud-Clone Corp.
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: Divalent metal transporter 1
    SLC11 family of proton-coupled metal ion transporters

    1 InterPro protein domain:
     IPR001046 NRAMP-like

    Graphical View of Domain Structure for InterPro Entry P49281

    ProtoNet protein and cluster: P49281

    1 Blocks protein domain: IPB001046 Natural resistance-associated macrophage protein signature

    UniProtKB/Swiss-Prot: NRAM2_HUMAN, P49281
    Similarity: Belongs to the NRAMP family


    Find genes that share domains with SLC11A2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NRAM2_HUMAN, P49281
    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
    Biophysicochemical properties: pH dependence: Optimum pH is 5.5-6.5 for Fe(2+) uptake;

         Genatlas biochemistry entry for SLC11A2:
    solute carrier family 11,member A2,proton-coupled divalent metal ion transporter family,natural resistance
    associated macrophage protein 2,61.5kDa,ubiquitously expressed

         Gene Ontology (GO): Selected molecular function terms (see all 24):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity ----
    GO:0005375copper ion transmembrane transporter activity IDA12734107
    GO:0005381iron ion transmembrane transporter activity ----
    GO:0005384manganese ion transmembrane transporter activity IDA17109629
    GO:0005385NOT zinc ion transmembrane transporter activity IDA17109629
         
    Find genes that share ontologies with SLC11A2           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for SLC11A2:
     Synthetic lethal with Ras  Synthetic lethal with c-Myc af 

         12 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Slc11a2):
     cardiovascular system  growth/size/body  hematopoietic system  homeostasis/metabolism  immune system 
     integument  liver/biliary system  mortality/aging  nervous system  other 
     renal/urinary system  reproductive system 

    Find genes that share phenotypes with SLC11A2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Slc11a2tm1Nca for SLC11A2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC11A2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SLC11A2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC11A2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SLC11A2

    miRNA
    Products:
        
    miRTarBase miRNAs that target SLC11A2:
    hsa-mir-24-3p (MIRT030520), hsa-mir-122-5p (MIRT023294), hsa-let-7d-5p (MIRT004505), hsa-mir-218-5p (MIRT024231), hsa-mir-374b-5p (MIRT016064), hsa-mir-16-5p (MIRT031729), hsa-mir-484 (MIRT016623), hsa-mir-423-3p (MIRT016685)

    Block miRNA regulation of human, mouse, rat SLC11A2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SLC11A2 (see all 41):
    hsa-miR-345 hsa-miR-642a hsa-miR-15a hsa-miR-3921 hsa-miR-424 hsa-miR-149 hsa-miR-4330 hsa-miR-508-5p
    SwitchGear 3'UTR luciferase reporter plasmidSLC11A2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SLC11A2
    Predesigned siRNA for gene silencing in human, mouse, rat SLC11A2

    Gene Editing
    Products:
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    Clone
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    OriGene clones in human, mouse for SLC11A2 (see all 34)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 7): SLC11A2 (NM_000617)
    Sino Biological Human cDNA Clone for SLC11A2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC11A2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC11A2

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC11A2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NRAM2_HUMAN, P49281: Endosome membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    lysosome5
    nucleus5
    plasma membrane5
    vacuole5
    cytosol2
    peroxisome2
    extracellular1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 24):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA15880641
    GO:0005737cytoplasm IDA11891802
    GO:0005764lysosome IDA12475959
    GO:0005765lysosomal membrane IDA10751401
    GO:0005768endosome ----

    Find genes that share ontologies with SLC11A2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SLC11A2 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    SLC-mediated transmembrane transport0.47
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds0.38
    Transmembrane transport of small molecules0.47
    2Insulin receptor recycling
    Iron uptake and transport0.70
    3Mineral absorption
    Mineral absorption
    4Metal ion SLC transporters
    Metal ion SLC transporters
    5Lysosome
    Lysosome


    Find genes that share SuperPaths with SLC11A2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for SLC11A2
        Iron metabolism in placenta
    HIF-2-alpha transcription factor network


    2 Reactome Pathways for SLC11A2
        Iron uptake and transport
    Metal ion SLC transporters


    2 Kegg Pathways  (Kegg details for SLC11A2):
        Lysosome
    Mineral absorption

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC11A2
    Interactions:

        GeneGlobe Interaction Network for SLC11A2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SLC11A2 (P492813 ENSP000002620524) via UniProtKB, MINT, STRING, and/or I2D (see all 53)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NDFIP1Q9BT673, ENSP000002538144I2D: score=1 STRING: ENSP00000253814
    NDFIP2Q9NV923, ENSP000002186524I2D: score=1 STRING: ENSP00000218652
    PARK2O602603, ENSP000003558654I2D: score=1 STRING: ENSP00000355865
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    NEDD4P469343, ENSP000003455304I2D: score=1 STRING: ENSP00000345530
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 38):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000041transition metal ion transport ----
    GO:0001666response to hypoxia IEP18419598
    GO:0003032NOT detection of oxygen IEP18419598
    GO:0006778porphyrin-containing compound metabolic process ----
    GO:0006779porphyrin-containing compound biosynthetic process ----

    Find genes that share ontologies with SLC11A2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SLC11A2 (NRAM2)

    1 HMDB Compound for SLC11A2    About this table
    CompoundSynonyms CAS #PubMed Ids
    IronArmco iron (see all 19)7439-89-6--

    Selected Novoseek inferred chemical compound relationships for SLC11A2 gene (see all 18)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    iron 87.6 734 12876064 (8), 12209011 (7), 10984552 (6), 11159549 (6) (see all 99)
    fe2+ 63.3 7 17002471 (1), 12818360 (1), 12196176 (1), 10049947 (1) (see all 6)
    fe3+ 55.6 6 11842004 (2), 17002471 (1), 12196176 (1)
    copper 47.5 23 12734107 (4), 11842003 (2), 12220667 (2), 12973678 (1) (see all 10)
    manganese 45.8 9 18565586 (2), 12818360 (1), 10911382 (1), 12547224 (1)
    zinc 44.1 33 19306086 (2), 19083439 (2), 14594790 (1), 15173386 (1) (see all 10)
    cadmium 38.5 27 11439223 (6), 15105261 (4), 11502556 (4), 12388109 (3) (see all 7)
    5-aminolevulinic acid 25.4 5 12139757 (2), 17513696 (1)
    ascorbic acid 23.8 8 18815723 (6), 15631519 (1)
    citrate 20.5 3 18830567 (1)



    Find genes that share compounds with SLC11A2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SLC11A2 gene (7 alternative transcripts): 
    NM_000617.2  NM_001174125.1  NM_001174126.1  NM_001174127.1  NM_001174128.1  NM_001174129.1  NM_001174130.1  

    Unigene Cluster for SLC11A2:

    Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2
    Hs.505545  [show with all ESTs]
    Unigene Representative Sequence: NM_001174129
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 26):
    ENST00000551215 ENST00000262051(uc001rxd.4 uc001rxf.3 uc001rxe.4 uc001rxc.4)
    ENST00000546636 ENST00000547198 ENST00000262052(uc010smx.2 uc001rxh.2 uc010smy.2 uc001rxj.2 uc001rxi.3)
    ENST00000550782(uc001rxg.2) ENST00000547688 ENST00000541174 ENST00000545993
    ENST00000546743 ENST00000548554 ENST00000551231 ENST00000550061 ENST00000547510
    ENST00000546488 ENST00000547579 ENST00000550714 ENST00000547732
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SLC11A2 (see all 41):
    hsa-miR-345 hsa-miR-642a hsa-miR-15a hsa-miR-3921 hsa-miR-424 hsa-miR-149 hsa-miR-4330 hsa-miR-508-5p
    SwitchGear 3'UTR luciferase reporter plasmidSLC11A2 3' UTR sequence
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    GenScript: all cDNA clones in your preferred vector (see all 7): SLC11A2 (NM_000617)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC11A2
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat SLC11A2
      QuantiFast Probe-based Assays in human, mouse, rat SLC11A2

    Additional mRNA sequence: 

    AB004857.1 AB062284.1 AF046997.1 AF064484.1 AJ493662.1 AK094735.1 AK128640.1 AK296445.1 
    AK315987.1 AK316507.1 BC002592.2 BC100014.1 L37347.1 NR_033421.1 NR_033422.1 

    Selected DOTS entries (see all 29):

    DT.118360  DT.100654084  DT.99948246  DT.100654083  DT.121195985  DT.97817021  DT.121195972  DT.87046940 
    DT.100654081  DT.100772271  DT.441627  DT.91651870  DT.121195983  DT.85104369  DT.95075038  DT.85104370 
    DT.95170359  DT.95170367  DT.95233153  DT.100646845  DT.121195920  DT.121195994  DT.92442155  DT.95343485 

    Selected AceView cDNA sequences (see all 324):

    BM713288 BE382611 BC002592 NM_000617 AI087986 CD370812 AI349574 BG402900 
    BF929386 AI051244 BX091084 AB062284 AL534676 AA746147 BU166334 Z39474 
    BQ957704 BM473572 BM680054 AU125010 BM819114 BX487367 AI564622 AU132952 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SLC11A2 (see all 14)    About this scheme

    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:                                                        -     -     -     -                                               -                                 

    ExUns: 14b ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20a · 20b · 20c · 20d ^ 21a · 21b · 21c ^ 22
    SP1:        -           -                                   -     -     -                           
    SP2:        -           -                                         -     -                           
    SP3:        -           -                                                                           
    SP4:        -           -                                                                           
    SP5:        -           -                                                                           


    ECgene alternative splicing isoforms for SLC11A2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SLC11A2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAATAATTGT
    SLC11A2 Expression
    About this image


    SLC11A2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow
    SLC11A2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC11A2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.505545

    UniProtKB/Swiss-Prot: NRAM2_HUMAN, P49281
    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

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SLC11A2 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc11a21 , 5 solute carrier family 11 (proton-coupled divalent metal more1, 5 87.76(n)1
    90.91(a)1
      15 (56.29 cM)5
    181741  NM_001146161.11  NP_001139633.11 
     1003878985 
    lizard
    (Anolis carolinensis)
    Reptilia SLC11A26
    solute carrier family 11 (proton-coupled divalent ...
    75(a)
    1 ↔ 1
    2(67306983-67352828)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia slc11a21 solute carrier family 11 (proton-coupled divalent metal more 73.02(n)
    79.63(a)
      100144712  NM_001123466.1  NP_001116938.1 
    zebrafish
    (Danio rerio)
    Actinopterygii slc11a22 solute carrier family 11 (proton-coupled divalent metal more 75.96(n)   280654  AF529267.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Mvl1 , 3 Malvolio1 64(a)3
    62.96(n)1
    64.24(a)1
      424901  NM_206529.21  NP_996251.21 
    worm
    (Caenorhabditis elegans)
    Secernentea smf-11 , 3 smf-11 60(a)
    (best of 2)3
    58.28(n)1
    58.84(a)1
      X(6755063-6758306)3
    1809391  NM_001029621.41  NP_001024792.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SMF1(YOL122C)4 Divalent metal ion transporter with a broad specificity more   --   15(91419-89692) 854027  NP_014519.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons NRAMP51 NRAMP5 56.71(n)
    51.42(a)
      827613  NM_117995.1  NP_193614.1 
    rice
    (Oryza sativa)
    Liliopsida Os12g05816001 Os12g0581600 57.99(n)
    55.72(a)
      4352640  NM_001073667.1  NP_001067135.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC11A2 gene
    SLC11A12  
    4 SIMAP similar genes for SLC11A2 using alignment to 12 protein entries:     NRAM2_HUMAN (see all proteins):
    NSRP1    SLC11A1    HECW1    NRAMP1

    Find genes that share paralogs with SLC11A2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SLC11A2 (see all 1168)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0364344
    A colorectal cancer sample4--see VAR_0364342 A T mis40--------
    VAR_0330144
    Anemia, hypochromic microcytic, with iron overload 1 (AHMIO1)4--see VAR_0330142 R C mis40--------
    VAR_0330124
    Anemia, hypochromic microcytic, with iron overload 1 (AHMIO1)4--see VAR_0330122 G V mis40--------
    VAR_0330134
    Anemia, hypochromic microcytic, with iron overload 1 (AHMIO1)4--see VAR_0330132 E D mis40--------
    rs1219183661,2
    Cpathogenic151219729(-) TGACTC/TGCTCT 16 R C mis10--------
    rs1460247431,2
    C--48418946(+) ATATT-/AAAAAAAA 9 -- int10--------
    rs113539621,2
    C--48420495(+) CTACA-/CCCACA 9 -- int10--------
    rs587532501,2
    C--48432015(+) ACAAA-/CAAA  
            
    AACCA
    9 -- int11Minor allele frequency- CAAA:0.00NA 2
    rs114249031,2
    C--48435894(+) ACAAA-/CAAAAA 8 -- int1 trp30--------
    rs1161645261,2
    F--51206745(+) CGGTAC/TACTTG 3 -- ds50011Minor allele frequency- T:0.01WA 118

    HapMap Linkage Disequilibrium report for SLC11A2 (51373184 - 51422349 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SLC11A2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2660448CNV Deletion23128226
    esv34039CNV Loss18971310

    Human Gene Mutation Database (HGMD): SLC11A2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC11A2
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC11A2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 600523   
    OMIM disorders: 206100  
    UniProtKB/Swiss-Prot: NRAM2_HUMAN, P49281
  • 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. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 6 diseases for SLC11A2:    
    About MalaCards
    microcytic anemia    hypochromic microcytic anemia with iron overload    hypochromic microcytic anemia    hfe-associated hereditary hemochromatosis
    hemosiderosis    hemochromatosis

    2 diseases from the University of Copenhagen DISEASES database for SLC11A2:
    Hemochromatosis     Anemia

    Find genes that share disorders with SLC11A2           About GenesLikeMe

    Selected Novoseek inferred disease relationships for SLC11A2 gene (see all 20)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    microcytic anemia 86.8 20 16584902 (3), 16023393 (2), 17116712 (2), 16160008 (2) (see all 10)
    hereditary hemochromatosis 84.8 14 12547214 (5), 11042033 (1), 14530973 (1), 16759552 (1) (see all 8)
    iron overload 81.3 36 11159549 (4), 16584902 (3), 14618243 (2), 15459009 (2) (see all 18)
    anemia, hypochromic microcytic 79.4 12 18154916 (2), 15459009 (1), 18596229 (1), 17215883 (1) (see all 7)
    hemochromatosis 78 21 11042033 (3), 9642100 (3), 11159549 (2), 9915882 (1) (see all 13)
    iron deficiency 77.7 27 11313311 (3), 12547214 (2), 15054143 (2), 14618243 (1) (see all 18)
    iron deficiency anemia 59.9 2 12547214 (1), 11897618 (1)
    anemia 44.5 11 10548553 (1), 16790587 (1), 17109629 (1), 10594973 (1) (see all 8)
    thalassemia 25.6 1 18596229 (1)
    parkinson disease 13.1 2 19011085 (1)

    Genetic Association Database (GAD): SLC11A2
    Human Genome Epidemiology (HuGE) Navigator: SLC11A2 (9 documents)

    Export disorders for SLC11A2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SLC11A2 gene, integrated from 10 sources (see all 266):
    (articles sorted by number of sources associating them with SLC11A2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of a second human NRAMP gene on chromosome 12q13. (PubMed id 7613023)1, 2, 3, 9 Vidal S.... Gros P. (Mamm. Genome 1995)
    2. The human Nramp2 gene: characterization of the gene structure, alternative splicing, promoter region and polymorphisms. (PubMed id 9642100)1, 2, 9 Lee P.L.... Beutler E. (Blood Cells Mol. Dis. 1998)
    3. Divalent metal transporter 1 (DMT1) regulation by Ndfip1 prevents metal toxicity in human neurons. (PubMed id 19706893)1, 2, 9 Howitt J.... Tan S.S. (Proc. Natl. Acad. Sci. U.S.A. 2009)
    4. Functional properties of multiple isoforms of human divalent metal- ion transporter 1 (DMT1). (PubMed id 17109629)1, 2, 9 Mackenzie B.... Hediger M.A. (Biochem. J. 2007)
    5. SLC11A1 (NRAMP1) but not SLC11A2 (NRAMP2) polymorphisms are associated with susceptibility to tuberculosis in a high-incidence community in South Africa. (PubMed id 15636493)1, 4, 9 Hoal E.G....Van Helden P.D. (Int. J. Tuberc. Lung Dis. 2004)
    6. Previously uncharacterized isoforms of divalent metal transporter (DMT)-1: implications for regulation and cellular function. (PubMed id 12209011)1, 2, 9 Hubert N. and Hentze M.W. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    7. Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload. (PubMed id 15459009)1, 2, 9 Mims M.P.... Prchal J.T. (Blood 2005)
    8. Candidate gene association study of solute carrier family 11a members 1 (SLC11A1) and 2 (SLC11A2) genes in Alzheimer's disease. (PubMed id 15644277)1, 4, 9 Jamieson S.E....Blackwell J.M. (Neurosci. Lett. 2005)
    9. Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload. (PubMed id 16439678)1, 2, 9 Beaumont C....Tchernia G. (Blood 2006)
    10. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4891 HGNC: 10908 AceView: SLC11A2 Ensembl:ENSG00000110911 euGenes: HUgn4891
    ECgene: SLC11A2 Kegg: 4891 H-InvDB: SLC11A2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SLC11A2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLC11A2 gene:
    Search GeneIP for patents involving SLC11A2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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