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TFRC Gene

protein-coding   GIFtS: 69
GCID: GC03M195754

Transferrin Receptor

(Previous names: transferrin receptor (p90, CD71))
  See TFRC-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
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for TFRC Gene:
TFRC (transferrin receptor) is a protein-coding gene. Diseases associated with TFRC include gastric adenosquamous carcinoma, and berger disease. GO annotations related to this gene include transferrin receptor activity and identical protein binding. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NC_018914.2  NT_005612.17  
Regulatory elements:
   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 Chromatin IP Primers for TFRC

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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;
Selected 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: 

  • N- and O-glycosylated, phosphorylated and palmitoylated. The serum form is only glycosylated1
  • Proteolytically cleaved on Arg-100 to produce the soluble serum form (sTfR)1
  • Palmitoylated on both Cys-62 and Cys-67. Cys-62 seems to be the major site of palmitoylation1
  • Ubiquitination2 at Lys39, Lys224, Lys344, Lys358, Lys720
  • Glycosylation2 at Thr104, Asn251, Asn317, Asn727
  • Modification sites at PhosphoSitePlus

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

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

    ENSEMBL proteins: 
     ENSP00000414015   ENSP00000390133   ENSP00000353224   ENSP00000376197   ENSP00000402839  
     ENSP00000437753   ENSP00000443913  
    Reactome Protein details: P02786

    TFRC Human Recombinant Protein Products:

    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.

     
    Search eBioscience for Proteins for TFRC 

    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
    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

    TFRC Assay Products:

    Browse Kits and Assays available from EMD Millipore
    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.
    Search eBioscience for ELISAs for TFRC 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with TFRC           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: 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): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003725double-stranded RNA binding IDA--
    GO:0004998transferrin receptor activity NAS1871153
    GO:0005515protein binding IPI10638746
    GO:0008233peptidase activity IEA--
    GO:0042802identical protein binding IPI--
         
    Find genes that share ontologies with TFRC           About GenesLikeMe


    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/body 
     hematopoietic system  homeostasis/metabolism  immune system  integument  liver/biliary system 
     mortality/aging  nervous system 

    Find genes that share phenotypes with TFRC           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Tfrctm1Nca for TFRC

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TFRC
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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-3p (MIRT004549), hsa-mir-125a-5p (MIRT045700), hsa-mir-769-5p (MIRT039196), hsa-mir-34a-5p (MIRT025450), hsa-mir-320a (MIRT003744), hsa-mir-16-5p (MIRT051253), hsa-mir-22-3p (MIRT004538)

    Block miRNA regulation of human, mouse, rat TFRC using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for TFRC
    Predesigned siRNA for gene silencing in human, mouse, rat TFRC

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for TFRC

    Clone
    Products:
         
    OriGene clones in human, mouse for TFRC (see all 14)
    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
    Addgene plasmids for TFRC 

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for TFRC 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TFRC

    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-12208) for TFRC 


    (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
    TFR1_HUMAN, P02786: Cell membrane; Single-pass type II membrane protein. Melanosome. Note=Identified by mass
    spectrometry in melanosome fractions from stage I to stage IV
    TFR1_HUMAN, P02786: Transferrin receptor protein 1, serum form: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    extracellular5
    plasma membrane5
    golgi apparatus3
    cytoskeleton2
    cytosol2
    endoplasmic reticulum2
    lysosome2
    mitochondrion2
    nucleus2
    vacuole2

    Gene Ontology (GO): Selected cellular component terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IDA1871153
    GO:0005615extracellular space IDA--
    GO:0005768endosome IDA14612438
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS6090955

    Find genes that share ontologies with TFRC           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 TFRC About   (see all 12)  
    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
    Membrane Trafficking0.32
    2Insulin receptor recycling
    Transferrin endocytosis and recycling0.74
    Iron uptake and transport0.70
    3Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47
    4Validated targets of C-MYC transcriptional activation
    Validated targets of C-MYC transcriptional activation
    5Phagosome
    Phagosome


    Find genes that share SuperPaths with TFRC           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe 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


    2 Reactome Pathways for TFRC
        Golgi Associated Vesicle Biogenesis
    Transferrin endocytosis and recycling


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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TFRC: 
              Housekeeping Genes PCR Array in human mouse rat
              Hypoxia Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TFRC

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

    Selected Interacting proteins for TFRC (P027861, 2, 3 ENSP000003532244) via UniProtKB, MINT, STRING, and/or I2D (see all 120)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SH3BP4Q9P0V31, 2, 3, ENSP000003402374EBI-355727,EBI-1049513 MINT-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 
    ALBP027681, 2EBI-355727,EBI-714423 MINT-8413175 MINT-8412660
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001558NOT regulation of cell growth IMP7556058
    GO:0006508proteolysis ----
    GO:0006879cellular iron ion homeostasis TAS--
    GO:0006898receptor-mediated endocytosis TAS10192390
    GO:0016032viral process IEA--

    Find genes that share ontologies with TFRC           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 TFRC (TFR1)

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

    Selected 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)



    Find genes that share compounds with TFRC           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 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

    miRNA
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    Block miRNA regulation of human, mouse, rat TFRC using miScript Target Protectors
    Selected qRT-PCR 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
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    OriGene RNAi products in human, mouse, rat for TFRC
    Predesigned siRNA for gene silencing in human, mouse, rat TFRC
    Clone
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    OriGene clones in human, mouse for TFRC (see all 14)
    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)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TFRC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TFRC
    Addgene plasmids for TFRC 
    Primer
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    OriGene qPCR primer pairs and template standards for TFRC
    OriGene qSTAR qPCR primer pairs in human, mouse for TFRC
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TFRC
      QuantiTect SYBR Green Assays in human, mouse, rat TFRC
      QuantiFast Probe-based Assays in human, mouse, rat TFRC
    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-12208) for TFRC 

    Additional mRNA sequence: 

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

    Selected 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 

    Selected AceView cDNA sequences (see all 715):

    AI471581 BM992345 CD616638 BM557624 BM831320 AV703549 BG179729 BE042743 
    AI479239 BX111059 BX491107 CD676389 AI384107 BU156830 AW150054 AL120908 
    BQ958925 R29433 BX502646 BX494828 AI916228 AW301101 F02401 AI858602 

    GeneLoc Exon Structure

    Selected 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™, 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)
    About This Section

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    TFRC expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 13) fully expand
     
     Mesenchymal Stem Cells
             Mesenchymal Stem Cells Subcutaneous White Adipose
             Adipose-derived stromal cells
     
     Blood (Hematopoietic System)    fully expand to see all 5 entries
             Erythroid Progenitor Cells Hematopoietic Bone Marrow
             Erythroid-like cells
     
     Adipose (Muscoskeletal System)    fully expand to see all 4 entries
             Mesenchymal Stem Cells Subcutaneous White Adipose
             Adipose-derived stromal cells
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Bone Marrow
             Bone marrow-derived mesenchymal stem cells
     
     Endothelium (Cardiovascular System)    fully expand to see all 4 entries
             Adult Endothelial Cells Blood Brain Barrier
             Mature brain microvascular endothelial cells
    TFRC Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TFRC Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.529618
        Pathway & Disease-focused RT2 Profiler PCR Arrays including TFRC: 
              Housekeeping Genes PCR Array in human mouse rat
              Hypoxia Signaling Pathway in human mouse rat

    Primer
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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

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

    Orthologs for TFRC gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tfrc1 , 5 transferrin receptor1, 5 81.82(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(n)
    53.33(a)
      396191  NM_205256.1  NP_990587.1 
    lizard
    (Anolis carolinensis)
    Reptilia TFRC6
    transferrin receptor
    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...
    18(a)
    1 → many
    X(656254-658689) YJR126C


    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)
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    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

    Find genes that share paralogs with TFRC           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 TFRC (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) Selected 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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TFRC
    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 190010    OMIM disorders: --

    18 diseases for TFRC:    
    About MalaCards
    gastric adenosquamous carcinoma    berger disease    beta thalassemia    deficiency anemia
    iron deficiency anemia    adenosquamous carcinoma    restless legs syndrome    acral lentiginous melanoma
    hypochromic anemia    ehrlichiosis    siderosis    porphyria cutanea tarda
    malignant histiocytosis    friedreich ataxia    hemochromatosis    thalassemia
    gliosarcoma    malaria

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

    Find genes that share disorders with TFRC           About GenesLikeMe

    Selected 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)
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    PubMed articles for TFRC gene, integrated from 10 sources (see all 1547):
    (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. (Eur. J. Biochem. 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. (J. Mol. Biol. 2001)
    3. Structural model of phospholipid-reconstituted human transferrin receptor derived by electron microscopy. (PubMed id 9782058)1, 2, 9 Fuchs H.... Engel A. (Structure 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. (Beijing Da Xue Xue Bao 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. (J. Hepatol. 2002)
    6. Hemochromatosis gene mutations and distal adenomatous colorectal polyps. (PubMed id 15668490)1, 4, 9 McGlynn K.A....Buetow K.H. (amp 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. (Biochem. J. 1999)
    8. Hereditary hemochromatosis gene (HFE) variants are associated with birth weight and childhood leukemia risk. (PubMed id 19711434)1, 4, 9 Dorak M.T....Hall A.G. (amp 2009)
    9. Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. (PubMed id 19862010)1, 4, 9 Ganesh S.K....Lin J.P. (Nat. Genet. 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. (Nature 2007)

    (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)
    About This Section

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    Entrez Gene: 7037 HGNC: 11763 AceView: TFRC Ensembl:ENSG00000072274 euGenes: HUgn7037
    ECgene: TFRC Kegg: 7037 H-InvDB: TFRC

    (According to HUGE)
    About This Section

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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)
    About This Section

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    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.)
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    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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