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

TFRC Gene

protein-coding   GIFtS: 69
GCID: GC03M195754

Transferrin Receptor

(Previous names: transferrin receptor (p90, CD71))
Microbiology & Infectious Diseases Congress
  See 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)
About This Section

Aliases
Transferrin Receptor1 2     TFR12
Transferrin Receptor (P90, CD71)1 2     TRFR2
T92 3     Transferrin Receptor Protein 12
TR2 3     TfR3
p902 3     TfR13
CD712 5     Trfr3
TFR2 5     CD71 Antigen3

External Ids:    HGNC: 117631   Entrez Gene: 70372   Ensembl: ENSG000000722747   OMIM: 1900105   UniProtKB: P027863   

Export aliases for TFRC gene to outside databases

Previous GC identifers: GC03M191708 GC03M195991 GC03M197183 GC03M197102 GC03M197264 GC03M193076


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

GeneCards Summary for TFRC Gene: 
TFRC (transferrin receptor) is a protein-coding gene. Diseases associated with TFRC include gastric adenosquamous carcinoma, and berger disease, and among its related super-pathways are Golgi Associated Vesicle Biogenesis and Insulin receptor recycling. GO annotations related to this gene include peptidase activity and transferrin receptor activity. An important paralog of this gene is NAALADL1.

UniProtKB/Swiss-Prot: TFR1_HUMAN, P02786
Function: Cellular uptake of iron occurs via receptor-mediated endocytosis of ligand-occupied transferrin receptor
into specialized endosomes. Endosomal acidification leads to iron release. The apotransferrin-receptor complex is
then recycled to the cell surface with a return to neutral pH and the concomitant loss of affinity of
apotransferrin for its receptor. Transferrin receptor is necessary for development of erythrocytes and the
nervous system (By similarity). A second ligand, the heditary hemochromatosis protein HFE, competes for binding
with transferrin for an overlapping C-terminal binding site

Gene Wiki entry for TFRC 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_000003.11  NC_018914.2  NT_029928.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TFRC gene promoter:
         AP-2alpha isoform 3   AP-2alpha isoform 4   AP-2alpha isoform 2   Nkx2-5   AP-2alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TFRC promoter sequence
   Search SABiosciences Chromatin IP Primers for TFRC

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


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

Entrez Gene cytogenetic band: 3q29   Ensembl cytogenetic band:  3q29   HGNC cytogenetic band: 3q29

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

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M195754:  view genomic region     (about GC identifiers)

Start:
195,754,054 bp from pter      End:
195,809,060 bp from pter
Size:
55,007 bases      Orientation:
minus strand

(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: TFR1_HUMAN, P02786 (See protein sequence)
Recommended Name: Transferrin receptor protein 1  
Size: 760 amino acids; 84871 Da
Subunit: Homodimer; disulfide-linked. Binds one transferrin or HFE molecule per subunit. Binds the HLA class II
histocompatibility antigen, DR1. Interacts with SH3BP3. Interacts with Machupo arenavirus GPC
Subcellular location: Cell membrane; Single-pass type II membrane protein. Melanosome. Note=Identified by mass
spectrometry in melanosome fractions from stage I to stage IV
Subcellular location: Transferrin receptor protein 1, serum form: Secreted
Miscellaneous: Serum transferrin receptor (sTfR) is used as a means of detecting erythropoietin (EPO) misuse by
athletes and as a diagnostic test for anemia resulting from a number of conditions including rheumatoid
arthritis, pregnancy, irritable bowel syndrome and in HIV patients
Miscellaneous: Canine and feline parvoviruses bind human and feline transferrin receptors and use these receptors
to enter and infect cells
Sequence caution: Sequence=BAD92491.1; Type=Erroneous initiation;
6/8 PDB 3D structures from and Proteopedia for TFRC (see all 8):
1CX8 (3D)        1DE4 (3D)        1SUV (3D)        2NSU (3D)        3KAS (3D)        3S9L (3D)    
Secondary accessions: D3DXB0 Q1HE24 Q59G55 Q9UCN0 Q9UCU5 Q9UDF9 Q9UK21

Explore the universe of human proteins at neXtProt for TFRC: NX_P02786

Explore proteomics data for TFRC at MOPED 

Post-translational modifications:

  • UniProtKB: N- and O-glycosylated, phosphorylated and palmitoylated. The serum form is only glycosylated
  • UniProtKB: Proteolytically cleaved on Arg-100 to produce the soluble serum form (sTfR)
  • UniProtKB: Palmitoylated on both Cys-62 and Cys-67. Cys-62 seems to be the major site of palmitoylation
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P02786

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

    TFRC Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001121620.1  NP_003225.2  

    ENSEMBL proteins: 
     ENSP00000414015   ENSP00000390133   ENSP00000353224   ENSP00000376197   ENSP00000402839  
     ENSP00000437753   ENSP00000443913  
    Reactome Protein details: P02786
    Human Recombinant Protein Products for TFRC: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for TFRC (TfR (Transferrin R))
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for TFRC
    OriGene Protein Over-expression Lysate for TFRC
    OriGene MassSpec for TFRC 
    OriGene Custom Protein Services for TFRC
    GenScript Custom Purified and Recombinant Proteins Services for TFRC
    Novus Biologicals TFRC Proteins
    Novus Biologicals TFRC Lysates
    Sino Biological Recombinant Protein for TFRC
    Sino Biological Cell Lysate for TFRC 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IDA1871153
    GO:0005768endosome IDA14612438
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS6090955
    GO:0005905coated pit IDA12857860

    TFRC for ontologies           About GeneDecksing



    TFRC Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of TFRC
    R&D Systems Antibodies for TFRC (TfR (Transferrin R))
    OriGene Antibodies for TFRC
    OriGene Custom Antibody Services for TFRC
    GenScript Custom Superior Antibodies Services for TFRC
    Novus Biologicals TFRC Antibodies
    Abcam antibodies for TFRC
    Browse Antibodies at Cloud-Clone Corp. 
    ThermoFisher Antibody for TFRC
    LSBio Antibodies in human, mouse, rat for TFRC 

    Assay Products for TFRC: 
    EMD Millipore Kits and Assays for the Analysis of TFRC
    OriGene Custom Assay Services for TFRC
    R&D Systems ELISAs for TFRC (TfR (Transferrin R))         (see all)
    GenScript Custom Assay Services for TFRC
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    CD: CD molecules

    3 InterPro protein domains:
     IPR007484 Peptidase_M28
     IPR007365 TFR-like_dimer_dom
     IPR003137 Protease-assoc_domain

    Graphical View of Domain Structure for InterPro Entry P02786

    ProtoNet protein and cluster: P02786

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


    UniProtKB/Swiss-Prot: TFR1_HUMAN, P02786
    Similarity: Belongs to the peptidase M28 family. M28B subfamily
    Similarity: Contains 1 PA (protease associated) domain


    TFRC 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: TFR1_HUMAN, P02786
    Function: Cellular uptake of iron occurs via receptor-mediated endocytosis of ligand-occupied transferrin receptor
    into specialized endosomes. Endosomal acidification leads to iron release. The apotransferrin-receptor complex is
    then recycled to the cell surface with a return to neutral pH and the concomitant loss of affinity of
    apotransferrin for its receptor. Transferrin receptor is necessary for development of erythrocytes and the
    nervous system (By similarity). A second ligand, the heditary hemochromatosis protein HFE, competes for binding
    with transferrin for an overlapping C-terminal binding site
    Induction: Regulated by cellular iron levels through binding of the iron regulatory proteins, IRP1 and IRP2, to
    iron-responsive elements in the 3'-UTR. Up-regulated upon mitogenic stimulation

         Genatlas biochemistry entry for TFRC:
    transferrin receptor (p90),involved in the development of erythrocytes and the nervous system

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004998transferrin receptor activity NAS1871153
    GO:0005515protein binding IPI10638746
    GO:0008233peptidase activity IEA--
    GO:0042802identical protein binding IPI--
         
    TFRC for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for TFRC:
     Increased cell death in HCT116  Increased gamma-H2AX phosphory  Upregulation of Wnt/beta-caten 

         12 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Tfrc):
     cardiovascular system  cellular  digestive/alimentary  embryogenesis  growth/size 
     hematopoietic system  homeostasis/metabolism  immune system  integument  liver/biliary system 
     mortality/aging  nervous system 

    TFRC for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Tfrctm1Nca for TFRC

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TFRC 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TFRC

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target TFRC:
    hsa-mir-200a (MIRT004549), hsa-mir-320a (MIRT003744), hsa-mir-22 (MIRT004538)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TFRC
    8/82 QIAGEN miScript miRNA Assays for microRNAs that regulate TFRC (see all 82):
    hsa-miR-323-3p hsa-miR-582-3p hsa-miR-140-5p hsa-miR-200a hsa-miR-3142 hsa-miR-1243 hsa-miR-4273 hsa-miR-374b*
    SwitchGear 3'UTR luciferase reporter plasmidTFRC 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for TFRC
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TFRC

    Gene Editing
    Products:
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    Sirion Biotech Customized adenovirus for overexpression of TFRC

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for TFRC (see all 15)
    OriGene ORF clones in mouse, rat for TFRC
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): TFRC (NM_003234)
    Sino Biological Human cDNA Clone for TFRC
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TFRC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TFRC
    Sirion Biotech Customized lentivirus for stable overexpression of TFRC 
                         Customized lentivirus expression plasmids for stable overexpression of TFRC 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for TFRC
    Search LifeMap BioReagents cell lines for TFRC
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TFRC


    (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 TFRC About   (see all 13)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Clathrin derived vesicle budding
    Clathrin derived vesicle budding0.89
    trans-Golgi Network Vesicle Budding0.89
    Golgi Associated Vesicle Biogenesis0.89
    2Insulin receptor recycling
    Transferrin endocytosis and recycling0.79
    Iron uptake and transport0.69
    3SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50
    4Membrane Trafficking
    Membrane Trafficking0.32
    5Validated targets of C-MYC transcriptional activation
    Validated targets of C-MYC transcriptional activation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    4 BioSystems Pathways for TFRC
        Iron metabolism in placenta
    HIF-1-alpha transcription factor network
    FOXA2 and FOXA3 transcription factor networks
    Validated targets of C-MYC transcriptional activation


    5/7        Reactome Pathways for TFRC (see all 7)
        Transmembrane transport of small molecules
    Membrane Trafficking
    Clathrin derived vesicle budding
    Golgi Associated Vesicle Biogenesis
    trans-Golgi Network Vesicle Budding


    4         Kegg Pathways  (Kegg details for TFRC):
        HIF-1 signaling pathway
    Endocytosis
    Phagosome
    Hematopoietic cell lineage


    TFRC for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TFRC

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

    5/104 Interacting proteins for TFRC (P027862, 3 ENSP000003532244) via UniProtKB, MINT, STRING, and/or I2D (see all 104)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SH3BP4Q9P0V32, 3, ENSP000003402374MINT-7160681 MINT-7183598 MINT-7159892 MINT-7183510 MINT-7159844 MINT-7160658 I2D: score=1 STRING: ENSP00000340237
    HFEQ302012, 3, ENSP000004174044MINT-7896162 I2D: score=5 STRING: ENSP00000417404
    RANBP9Q96S592, 3, ENSP000000116194MINT-50059 I2D: score=3 STRING: ENSP00000011619
    MYO1GB0I1T22, 3, ENSP000002587874STRING: ENSP00000258787 MINT-7307283 I2D: score=1 
    IKBKEQ141642, 3MINT-48105 I2D: score=2 
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IEA--
    GO:0006879cellular iron ion homeostasis TAS--
    GO:0019048modulation by virus of host morphology or physiology IEA--
    GO:0030316osteoclast differentiation IEA--
    GO:0033572transferrin transport TAS--

    TFRC 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

    TFRC for compounds           About GeneDecksing

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

    Browse Tocris compounds for TFRC (TFR1)

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

    10/138 Novoseek inferred chemical compound relationships for TFRC gene (see all 138)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    iron 91.8 2382 11063448 (8), 12605386 (7), 9989689 (7), 10681454 (6) (see all 99)
    ferric ammonium citrate 73.7 3 15615730 (1), 10691965 (1)
    apotransferrin 71.1 9 9673237 (2), 7666462 (1), 8143732 (1), 7508710 (1) (see all 7)
    zinc protoporphyrin 67.9 67 15755831 (10), 9543601 (4), 11570210 (2), 12468607 (2) (see all 22)
    mannose 6-phosphate 66.5 33 1310006 (2), 10821869 (2), 1655415 (2), 9004032 (1) (see all 26)
    deferoxamine 65 36 10518614 (3), 1629195 (2), 1638529 (2), 19183107 (2) (see all 20)
    gallium 64.6 73 8761380 (5), 17121930 (4), 2393846 (3), 8379943 (3) (see all 30)
    gambogic acid 63.9 27 16103367 (6), 20071291 (3), 17673602 (3), 17017915 (1) (see all 6)
    fe3+ 56.6 6 10373684 (1), 20397659 (1), 7508710 (1), 19103311 (1)
    ricin a 54.4 13 2230286 (3), 9361057 (1), 2144790 (1), 1351885 (1) (see all 9)

    Search CenterWatch for drugs/clinical trials and news about TFRC / TFR1

    (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 TFRC gene (2 alternative transcripts): 
    NM_001128148.1  NM_003234.2  

    Unigene Cluster for TFRC:

    Transferrin receptor (p90, CD71)
    Hs.529618  [show with all ESTs]
    Unigene Representative Sequence: NM_003234
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000426789 ENST00000420415 ENST00000360110(uc003fwa.4 uc010hzy.3 uc011btr.2)
    ENST00000392396(uc003fvz.4) ENST00000463047 ENST00000475593 ENST00000483983
    ENST00000463356 ENST00000482479 ENST00000465288 ENST00000477148 ENST00000464368
    ENST00000491658 ENST00000421258 ENST00000464011 ENST00000535031 ENST00000540528

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/82 QIAGEN miScript miRNA Assays for microRNAs that regulate TFRC (see all 82):
    hsa-miR-323-3p hsa-miR-582-3p hsa-miR-140-5p hsa-miR-200a hsa-miR-3142 hsa-miR-1243 hsa-miR-4273 hsa-miR-374b*
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    Inhib. RNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TFRC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TFRC
    Sirion Biotech Customized lentivirus for stable overexpression of TFRC 
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TFRC

    Additional mRNA sequence: 

    AB209254.1 AK291723.1 AK294758.1 AK309923.1 BC001188.1 BX537966.1 M11507.1 X01060.1 

    24/31 DOTS entries (see all 31):

    DT.95162018  DT.100678100  DT.320130  DT.95162011  DT.120896116  DT.95162010  DT.120896183  DT.120896169 
    DT.100678099  DT.120896107  DT.92002189  DT.100678101  DT.100678109  DT.120896141  DT.312070  DT.65287964 
    DT.100664236  DT.120896104  DT.120896178  DT.120896179  DT.40295693  DT.95314614  DT.100678108  DT.120896156 

    24/715 AceView cDNA sequences (see all 715):

    AA693569 BM457323 BP350651 AA507582 BM709700 AL597583 AV706933 AA280009 
    CK429351 BM829124 CD676389 AL046375 R19385 CA428056 AA938634 AA764997 
    BM557624 BF969920 BM770012 BF794028 BX955874 AU140052 AI367004 N70819 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for TFRC (see all 11)    About this scheme

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

    ExUns: 18a · 18b · 18c ^ 19a · 19b · 19c ^ 20a · 20b · 20c ^ 21a · 21b · 21c
    SP1:              -     -                                                   
    SP2:              -     -                                                   
    SP3:              -     -                                                   
    SP4:              -     -                                                   
    SP5:                                                                        


    ECgene alternative splicing isoforms for TFRC

    (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

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


    TFRC expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/13 selected tissues (see all 13) fully expand
     
     Endothelium (Cardiovascular System)    fully expand to see all 4 entries
             Adult Endothelial Cells Blood Brain Barrier
             Umbilical cord blood-derived endothelial progenitor cells
     
     Blood (Hematopoietic System)    fully expand to see all 4 entries
             Erythroid Progenitor Cells Hematopoietic Bone Marrow
             Erythroid-like cells ( Generation of hematopoietic progenitor cells and matured blood...
     
     Adipose (Muscoskeletal System)    fully expand to see all 3 entries
             Mesenchymal Stem Cells Subcutaneous White Adipose
             Adipose-derived stromal cells
     
     Blood Brain Barrier (Nervous System)    fully expand to see all 3 entries
             Adult Endothelial Cells Blood Brain Barrier
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Adult Endothelial Cells Blood Brain Barrier

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

    SOURCE GeneReport for Unigene cluster: Hs.529618
        SABiosciences Expression via Pathway-Focused PCR Arrays including TFRC: 
              Housekeeping Genes PCR Array in human mouse rat
              Hypoxia Signaling Pathway in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TFRC

    (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 TFRC gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tfrc1 , 5 transferrin receptor1, 5 81.77(n)1
    77.34(a)1
      16 (23.06 cM)5
    220421  NM_011638.41  NP_035768.11 
     326089205 
    chicken
    (Gallus gallus)
    Aves TFRC1 transferrin receptor (p90, CD71) 61.04(n)
    53.33(a)
      396191  NM_205256.1  NP_990587.1 
    lizard
    (Anolis carolinensis)
    Reptilia TFRC6
    Uncharacterized protein
    50(a)
    1 ↔ 1
    GL343971.1(81052-109409)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.157792 Transcribed sequence with weak similarity to protein more 87.79(n)    AL869143.2 
    zebrafish
    (Danio rerio)
    Actinopterygii CF347824.12   -- 87.85(n)    CF347824.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VPS706
    Protein of unknown function involved in vacuolar p...
    17(a)
    1 → many
    X(656254-658689)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TFRC gene
    NAALADL12  NAALADL22  FOLH12  TFR22  NAALAD22  
    2 SIMAP similar genes for TFRC using alignment to 5 protein entries:     TFR1_HUMAN (see all proteins):
    TFR2    NAALADL1

    TFRC 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

    10/1041 SNPs in TFRC are shown (see all 1041)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs556390891,2
    C--193093063(+) GGGGG-/G/GGG 
            
    CGGTC
    2 -- int11NA 2
    rs1892273961,2
    --195775696(+) TGTCAC/TGAAGA 2 -- int10--------
    rs800889481,2
    F--195775738(+) AAGAGG/ACCAAT 2 -- int11Minor allele frequency- A:0.01WA 118
    rs1428079671,2
    --195775783(+) CAGTCA/TGGAAA 2 -- int10--------
    rs1807531991,2
    --195775815(+) AAGATC/TTGTGG 2 -- int10--------
    rs412993941,2
    C,F--195775824(-) CCCTGG/ATAACC 2 -- int110Minor allele frequency- A:0.12NS NA EA 618
    rs1120195041,2
    F--195775947(+) CTAACA/GTAAAC 2 -- int11Minor allele frequency- G:0.00CSA 1
    rs124877021,2
    C,F,H--195775991(+) CACCCG/ATGTAG 2 -- int111Minor allele frequency- A:0.16NA NS CSA WA EA 743
    rs98499341,2
    C,F--195776017(+) AAATAT/CGCCGC 2 -- int114Minor allele frequency- C:0.23NS NA WA EA 750
    rs412993901,2
    C,F--195776028(-) CTTGCG/ACCAGA 2 -- int111Minor allele frequency- A:0.02NS NA WA 626

    HapMap Linkage Disequilibrium report for TFRC (195754054 - 195809060 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/15 variations for TFRC (see all 15):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2726560CNV Deletion23290073
    esv274570CNV Insertion20981092
    nsv10386CNV Loss18304495
    nsv820015CNV Loss19587683
    nsv524410CNV Gain19592680
    nsv878172CNV Gain21882294
    nsv483017CNV Gain15286789
    nsv878170CNV Gain21882294
    nsv878171CNV Gain21882294
    nsv471621CNV Gain+Loss15918152


    Human Gene Mutation Database (HGMD): TFRC
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for TFRC

    (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: 190010    OMIM disorders: --

    20/150 diseases for TFRC (see all 150):    About MalaCards
    gastric adenosquamous carcinoma    berger disease    acral lentiginous melanoma    iron metabolism disease
    nutrition disease    iron deficiency anemia    restless legs syndrome    hypochromic anemia
    gliosarcoma    porphyria cutanea tarda    siderosis    ehrlichiosis
    hemochromatosis    beta thalassemia    friedreich ataxia    microcytic anemia
    malignant histiocytosis    thalassemia    hemoglobinopathy    leukopenia

    6 diseases from the University of Copenhagen DISEASES database for TFRC:
    Anemia     Hemochromatosis     Nutrition disease     Thalassemia
    Leukemia     Lymphoma

    TFRC for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/95 Novoseek inferred disease relationships for TFRC gene (see all 95)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    iron deficiency 90.3 238 11063448 (6), 12605386 (3), 10968236 (3), 17469727 (3) (see all 99)
    hereditary hemochromatosis 82.9 28 11027676 (2), 10087990 (2), 1915805 (2), 1537518 (1) (see all 19)
    iron deficiency anemia 79.5 52 7513628 (4), 12870058 (3), 15843240 (3), 10508130 (2) (see all 33)
    iron overload 79.3 39 2179037 (3), 12198371 (3), 1537518 (2), 9550556 (2) (see all 24)
    anemia 76.5 128 15104997 (4), 8055201 (3), 8730420 (3), 15843240 (3) (see all 77)
    hemochromatosis 75.3 41 1858781 (4), 15894659 (2), 2179037 (1), 8178799 (1) (see all 28)
    microcytic anemia 57.7 2 15018392 (1), 18617898 (1)
    chronic disease 52.7 33 11190796 (2), 11045146 (2), 16271988 (2), 7513628 (2) (see all 24)
    erythroleukemia 51.2 11 7742556 (2), 1871153 (1), 19716852 (1), 7913709 (1) (see all 9)
    thalassemia 49.7 8 12513755 (2), 19824799 (1), 7781757 (1), 9624883 (1) (see all 6)

    Genetic Association Database (GAD): TFRC
    Human Genome Epidemiology (HuGE) Navigator: TFRC (24 documents)

    Export disorders for TFRC 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 TFRC gene, integrated from 9 sources (see all 1545):
    (articles sorted by number of sources associating them with TFRC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Functional analysis of human/chicken transferrin receptor chimeras indicates that the carboxy-terminal region is important for ligand binding. (PubMed id 8631371)1, 2, 9 Buchegger F.... Collawn J.F. (1996)
    2. Mutational analysis of the transferrin receptor reveals overlapping HFE and transferrin binding sites. (PubMed id 11800564)1, 2, 9 West A.P. Jr.... Bjorkman P.J. (2001)
    3. Structural model of phospholipid-reconstituted human transferrin receptor derived by electron microscopy. (PubMed id 9782058)1, 2, 9 Fuchs H.... Engel A. (1998)
    4. [Correlation of TFRC polymorphism with the susceptibility and clinicopathologic phenotypes of IgA nephropathy] (PubMed id 18677382)1, 4, 9 Feng X.Z....Zhang H. (2008)
    5. Iron and HFE or TfR1 mutations as comorbid factors for development and progression of chronic hepatitis C. (PubMed id 12445428)1, 4, 9 Bonkovsky H.L....Hsieh C.C. (2002)
    6. Hemochromatosis gene mutations and distal adenomatous colorectal polyps. (PubMed id 15668490)1, 4, 9 McGlynn K.A....Buetow K.H. (2005)
    7. A conserved RGD (Arg-Gly-Asp) motif in the transferrin receptor is required for binding to transferrin. (PubMed id 10377239)1, 2, 9 Dubljevic V.... Goding J.W. (1999)
    8. Hereditary hemochromatosis gene (HFE) variants are as sociated with birth weight and childhood leukemia risk. (PubMed id 19711434)1, 4, 9 Dorak M.T....Hall A.G. (2009)
    9. Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. (PubMed id 19862010)1, 4, 9 Ganesh S.K....Lin J.P. (2009)
    10. Transferrin receptor 1 is a cellular receptor for New World haemorrhagic fever arenaviruses. (PubMed id 17287727)1, 2, 9 Radoshitzky S.R....Choe H. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 7037 HGNC: 11763 AceView: TFRC Ensembl:ENSG00000072274 euGenes: HUgn7037
    ECgene: TFRC Kegg: 7037 H-InvDB: TFRC

    (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 TFRC Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TFRC Genetics and Cytogenetics in Oncology and Haematology

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

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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