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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TFR2 Gene

protein-coding   GIFtS: 63
GCID: GC07M100218

Transferrin Receptor 2

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Transferrin Receptor 21 2
HFE32 5
TFRC22
Transferrin Receptor Protein 22
TfR23

External Ids:    HGNC: 117621   Entrez Gene: 70362   Ensembl: ENSG000001063277   OMIM: 6047205   UniProtKB: Q9UP523   

Export aliases for TFR2 gene to outside databases

Previous GC identifers: GC07M098752 GC07M099815 GC07M099829 GC07M099862 GC07M100055 GC07M094849


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TFR2 Gene:
This gene encodes a single-pass type II membrane protein, which is a member of the transferrin receptor-like
family. This protein mediates cellular uptake of transferrin-bound iron, and may be involved in iron metabolism,
hepatocyte function and erythrocyte differentiation. Mutations in this gene have been associated with hereditary
hemochromatosis type III. Alternatively spliced transcript variants encoding different isoforms have been
described for this gene. (provided by RefSeq, May 2011)

GeneCards Summary for TFR2 Gene: 
TFR2 (transferrin receptor 2) is a protein-coding gene. Diseases associated with TFR2 include hemochromatosis, type 3, and tfr2-related hereditary hemochromatosis. GO annotations related to this gene include peptidase activity and transferrin receptor activity. An important paralog of this gene is NAALADL1.

UniProtKB/Swiss-Prot: TFR2_HUMAN, Q9UP52
Function: Mediates cellular uptake of transferrin-bound iron in a non-iron dependent manner. May be involved in
iron metabolism, hepatocyte function and erythrocyte differentiation

Gene Wiki entry for TFR2 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007933.15  NC_018918.2  NT_079595.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TFR2 gene promoter:
         NF-YA   CUTL1   Egr-4   NF-YB   CBF-A   CBF-B   CP1A   Zic3   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 5): TFR2 promoter sequence
   Search SABiosciences Chromatin IP Primers for TFR2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TFR2


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

Entrez Gene cytogenetic band: 7q22   Ensembl cytogenetic band:  7q22.1   HGNC cytogenetic band: 7q22

TFR2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TFR2 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M100218:  view genomic region     (about GC identifiers)

Start:
100,218,039 bp from pter      End:
100,240,402 bp from pter
Size:
22,364 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 99,577,671-99,598,799     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TFR2_HUMAN, Q9UP52 (See protein sequence)
Recommended Name: Transferrin receptor protein 2  
Size: 801 amino acids; 88755 Da
Subunit: Homodimer
Subcellular location: Cell membrane; Single-pass type II membrane protein
Subcellular location: Isoform Beta: Cytoplasm (Probable). Note=Lacks the transmembrane domain. Probably
intracellular
Miscellaneous: The variant Lys-172 found in hereditary hemochromatosis type III affects the putative initiation
codon of the beta isoform thus preventing its translation
Sequence caution: Sequence=BAA91153.1; Type=Erroneous initiation;
Secondary accessions: A6NGM7 O75422 Q1HE13 Q9HA99 Q9NX67
Alternative splicing: 3 isoforms:  Q9UP52-1   Q9UP52-2   Q9UP52-3   

Explore the universe of human proteins at neXtProt for TFR2: NX_Q9UP52

Explore proteomics data for TFR2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UP52

  • TFR2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TFR2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001193784.1  NP_003218.2  

    ENSEMBL proteins: 
     ENSP00000418942   ENSP00000420525   ENSP00000223051   ENSP00000443656   ENSP00000413905  

    Human Recombinant Protein Products for TFR2: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TFR2 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005887integral to plasma membrane NAS10409623

    TFR2 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for TFR2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR007484 Peptidase_M28
     IPR007365 TFR-like_dimer_dom
     IPR003137 Protease-assoc_domain

    Graphical View of Domain Structure for InterPro Entry Q9UP52

    ProtoNet protein and cluster: Q9UP52

    3 Blocks protein domains:
    IPB003137 Protease-associated PA
    IPB007365 Transferrin receptor-like dimerisation domain
    IPB007484 Peptidase family M28


    UniProtKB/Swiss-Prot: TFR2_HUMAN, Q9UP52
    Similarity: Belongs to the peptidase M28 family. M28B subfamily


    TFR2 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TFR2_HUMAN, Q9UP52
    Function: Mediates cellular uptake of transferrin-bound iron in a non-iron dependent manner. May be involved in
    iron metabolism, hepatocyte function and erythrocyte differentiation

         Genatlas biochemistry entry for TFR2:
    transferrin receptor 2,involved in the cellular transport of iron (alpha form),similar to TFRC,negatively
    modulated by the hemochromatosis protein HFE,expressed in the liver

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004998transferrin receptor activity NAS10409623
    GO:0008233peptidase activity IEA--
         
    TFR2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TFR2:
     Increased cell death HMECs cel 

         6 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Tfr2):
     growth/size  hematopoietic system  homeostasis/metabolism  immune system  liver/biliary system 
     no phenotypic analysis 

    TFR2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for TFR2: Tfr2tm1Slu Tfr2tm1.1Nsub

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TFR2 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TFR2 
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    SwitchGear 3'UTR luciferase reporter plasmidTFR2 3' UTR sequence
    Inhib. RNA
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                         Customized lentivirus expression plasmids for stable overexpression of TFR2 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TFR2


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TFR2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1AMPK Enzyme Complex Pathway
    AMPK Enzyme Complex Pathway
    2Iron metabolism in placenta
    Iron metabolism in placenta

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for TFR2
        AMPK Enzyme Complex Pathway

    1 BioSystems Pathway for TFR2
        Iron metabolism in placenta



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TFR2

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for TFR2 (Q9UP523 ENSP000002230514) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HFEQ302013, ENSP000004174044I2D: score=3 STRING: ENSP00000417404
    TFP027873, ENSP000002649984I2D: score=3 STRING: ENSP00000264998
    UBCENSP000003448184STRING: ENSP00000344818
    SOCS3ENSP000003303414STRING: ENSP00000330341
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IEA--
    GO:0006826iron ion transport NAS10409623
    GO:0006879cellular iron ion homeostasis TAS15319276

    TFR2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TFR2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TFR2

    1 HMDB Compound for TFR2    About this table
    CompoundSynonyms CAS #PubMed Ids
    IronArmco iron (see all 19)7439-89-6--

    2 Novoseek inferred chemical compound relationships for TFR2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    iron 86.2 253 10681454 (7), 15319276 (6), 19828835 (6), 15319290 (5) (see all 93)
    deferoxamine 32.1 2 10748106 (1)

    Search CenterWatch for drugs/clinical trials and news about TFR2

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TFR2 gene (2 alternative transcripts): 
    NM_001206855.1  NM_003227.3  

    Unigene Cluster for TFR2:

    Transferrin receptor 2
    Hs.544932  [show with all ESTs]
    Unigene Representative Sequence: BC142630
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000490084(uc010lhc.1) ENST00000465294 ENST00000462107(uc003uvv.1)
    ENST00000462090 ENST00000476304(uc003uvu.1) ENST00000461176 ENST00000473374
    ENST00000473963 ENST00000473571 ENST00000475011 ENST00000474947(uc003uvw.1)
    ENST00000223051 ENST00000544242 ENST00000431692

    miRNA
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate TFR2:
    hsa-miR-299-5p hsa-miR-532-3p hsa-miR-4301
    SwitchGear 3'UTR luciferase reporter plasmidTFR2 3' UTR sequence
    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TFR2
    Sirion Biotech Customized lentivirus for stable overexpression of TFR2 
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TFR2

    Additional mRNA sequence: 

    AF067864.1 AF085928.1 BC142630.1 

    8 DOTS entries:

    DT.40190694  DT.92423731  DT.445925  DT.100715849  DT.100728709  DT.100776080  DT.40244417  DT.95265742 

    24/76 AceView cDNA sequences (see all 76):

    D12144 CR611302 BX384750 CA749032 BI333589 BX380427 AU120394 BM789111 
    CR602135 R99383 AK000421 AV653687 AA809686 AA748421 BX328141 BP361739 
    AA326529 BG209104 BG190039 BG183677 AA505641 AI814648 NM_003227 AF067864 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for TFR2 (see all 6)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^
    SP1:                                                                                -                                                                           
    SP2:                                                                                -           -                                                               
    SP3:                                                                                            -           -                                                   
    SP4:                                                                                                                                                            
    SP5:                                -     -                                                                                                                     

    ExUns: 20
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for TFR2

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TFR2 expression in normal human tissues (normalized intensities)      TFR2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCCGTGGAG
    TFR2 Expression
    About this image


    TFR2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Blood (Cardiovascular System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Liver Bud
             cd14+ cells   
     
     Liver (Hepatobiliary System)
             Hematopoietic Stem Cells Liver Bud
     
     Bone (Muscoskeletal System)
             bone marrow   

    See TFR2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TFR2

    SOURCE GeneReport for Unigene cluster: Hs.544932

    UniProtKB/Swiss-Prot: TFR2_HUMAN, Q9UP52
    Tissue specificity: Predominantly expressed in liver. While the alpha form is also expressed in spleen, lung,
    muscle, prostate and peripheral blood mononuclear cells, the beta form is expressed in all tissues tested, albeit
    weakly

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TFR2

    (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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for TFR2 gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tfr21 , 5 transferrin receptor 21, 5 83.04(n)1
    85.18(a)1
      5 (76.57 cM)5
    507651  NM_015799.31  NP_056614.31 
     1375698515 
    zebrafish
    (Danio rerio)
    Actinopterygii tfr21 transferrin receptor 2 60.84(n)
    54.27(a)
      494476  NM_001009916.1  NP_001009916.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TRE1(YPL176C)4 Plasma membrane protein that binds to Bsd2p and regulates more   --   16(218363-216012) 855927  NP_015149.1 


    ENSEMBL Gene Tree for TFR2 (if available)
    TreeFam Gene Tree for TFR2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TFR2 gene
    NAALADL12  NAALADL22  TFRC2  FOLH12  NAALAD22  
    17 SIMAP similar genes for TFR2 using alignment to 4 protein entries:     TFR2_HUMAN (see all proteins):
    SH2B3    COQ5    KIAA0101    PFKFB3    C1orf143    FCER1G
    KIAA1651    TFRC    NOSTRIN    ATL2    TUBA1C    GEMIN6
    SEC14L3    FLJ16124    FOLH1B    NAALAD2    FOLH1

    TFR2 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/643 SNPs in TFR2 are shown (see all 643)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0127384
    Hemochromatosis 3 (HFE3)4--see VAR_0127382 M K mis40--------
    VAR_0425154
    Hemochromatosis 3 (HFE3)4--see VAR_0425152 V I mis40--------
    VAR_0425174
    Hemochromatosis 3 (HFE3)4--see VAR_0425172 Q P mis40--------
    rs20756741,2
    C,F,A,Hnon-pathogenic1103530712(-) CCCGCC/TGTGGC 4 A syn1 ese324Minor allele frequency- T:0.14NS EA NA WA 5558
    rs357047601,2
    C,F,Hnon-pathogenic1103530793(-) CAGGAC/TGACCA 4 D syn112Minor allele frequency- T:0.00NA NS CSA EU 5168
    rs342428181,2,4
    C,Fnon-pathogenic1103536538(-) GCCATC/GGGCAA 4 I M mis115Minor allele frequency- G:0.04NA NS WA CSA EA EU 5988
    rs413023571,2
    Cnon-pathogenic1103544335(-) CTGGGC/TGGCAG 2 A V mis15Minor allele frequency- T:0.00NS 380
    rs803388911,2
    Cpathogenic1103524194(-) TTAGCG/AGGGAT 4 /R /G mis11Minor allele frequency- A:0.00NA 4552
    rs803388891,2
    Cpathogenic1103530132(-) GCGGCA/CGGAGA 4 Q P mis10--------
    rs803388851,2
    C,Fpathogenic1103531598(-) GCCCCG/ACAGAA 4 /H /R mis11Minor allele frequency- A:0.00NA 4428

    HapMap Linkage Disequilibrium report for TFR2 (100218039 - 100240402 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for TFR2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2734888CNV Deletion23290073
    dgv7399n71CNV Loss21882294
    dgv7398n71CNV Loss21882294
    nsv888791CNV Loss21882294
    nsv831072CNV Loss17160897
    nsv888779CNV Loss21882294
    nsv888790CNV Gain21882294


    Human Gene Mutation Database (HGMD): TFR2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing TFR2
    DNA2.0 Custom Variant and Variant Library Synthesis for TFR2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604720   
    OMIM disorders: 604250  
    UniProtKB/Swiss-Prot: TFR2_HUMAN, Q9UP52
  • Hemochromatosis 3 (HFE3) [MIM:604250]: A disorder of iron metabolism characterized by iron overload.
    Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses
    including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe
    effects of the disease usually do not appear until after decades of progressive iron loading. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 20/32 diseases for TFR2 (see all 32):    About MalaCards
    hemochromatosis, type 3    tfr2-related hereditary hemochromatosis    aceruloplasminemia    atransferrinemia
    hemochromatosis    hfe-associated hereditary hemochromatosis    porphyria cutanea tarda    sideroblastic anemia
    beta thalassemia    porphyria    thalassemia    iron deficiency anemia
    liver cirrhosis    fatty liver disease    hepatitis c    arthropathy
    liver disease    acute myeloid leukemia    chronic lymphocytic leukemia    acute leukemia

    4 diseases from the University of Copenhagen DISEASES database for TFR2:
    Hemochromatosis     Aceruloplasminemia     Atransferrinemia     Anemia

    TFR2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/18 Novoseek inferred disease relationships for TFR2 gene (see all 18)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hemochromatosis, type 3 96.6 9 12393650 (1), 17298224 (1), 18430498 (1), 11313241 (1) (see all 9)
    hemochromatosis 93.7 67 15749661 (3), 12547237 (2), 12704209 (2), 16424658 (2) (see all 46)
    hemochromatosis, juvenile 93.6 11 16234038 (1), 18430498 (1), 17540536 (1), 12547233 (1) (see all 8)
    iron overload 93.3 44 10681454 (3), 17098454 (3), 12382200 (2), 12667993 (2) (see all 31)
    hereditary hemochromatosis 92.9 37 16923517 (2), 16893896 (2), 11358390 (2), 12667993 (2) (see all 22)
    hemochromatosis, autosomal dominant 92.6 1 18430498 (1)
    beta-thalassemia 52.2 2 16755567 (1), 15059075 (1)
    iron deficiency 47.7 3 10681454 (2)
    anemia 47.6 2 16540354 (1), 16838333 (1)
    genetic disorder 41 2 20408179 (1), 17202145 (1)

    GeneTests: TFR2
    GeneReviews: TFR2
    Genetic Association Database (GAD): TFR2
    Human Genome Epidemiology (HuGE) Navigator: TFR2 (27 documents)

    Export disorders for TFR2 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)
    About This Section

    PubMed articles for TFR2 gene, integrated from 9 sources (see all 222):
    (articles sorted by number of sources associating them with TFR2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation. (PubMed id 12130528)1, 2, 3 Mattman A....Vatcher G. (2002)
    2. Large-scale sequencing of two regions in human chromosome 7q22: analysis of 650 kb of genomic sequence around the EPO and CUTL1 loci reveals 17 genes. (PubMed id 9799793)1, 2, 3 Gloeckner G.... Rosenthal A. (1998)
    3. New muatations inactivating transferrin 2 in hemochromatosis type 3. (PubMed id 11313241)1, 2, 9 Roetto A.... Camaschella C. (2001)
    4. Analysis of HFE and TFR2 mutations in selected blood donors with biochemical parameters of iron overload. (PubMed id 12681966)1, 4, 9 De Gobbi M....Camaschella C. (2003)
    5. Can defects in transferrin receptor 2 and hereditary hemochromatosis genes account for iron overload in HbH disease? (PubMed id 12667993)1, 4, 9 Chan V....Chan T.K. (2003)
    6. Transferrin receptor-2 (TFR2) mutation Y250X in Alabama Caucasian and African American subjects with and without primary iron overload. (PubMed id 11358388)1, 4, 9 Barton E.H....Acton R.T. (2001)
    7. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. (PubMed id 10802645)1, 2, 9 Camaschella C.... Gasparini P. (2000)
    8. Molecular cloning of transferrin receptor 2: a new member of the transferrin receptor-like family. (PubMed id 10409623)1, 2, 9 Kawabata H....Koeffler H.P. (1999)
    9. Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes. (PubMed id 18762941)1, 4, 9 Mendes A.I....Faustino P. (2008)
    10. Analysis of HFE and TFR2 gene mutations in patients with acute leukemia. (PubMed id 15863206)1, 4, 9 Veneri D....Pizzolo G. (2005)

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

      Query String
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    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)
    About This Section
    Entrez Gene: 7036 HGNC: 11762 AceView: TFR2 Ensembl:ENSG00000106327 euGenes: HUgn7036
    ECgene: TFR2 H-InvDB: TFR2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TFR2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TFR2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TFR2 gene:
    Search GeneIP for patents involving TFR2

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



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