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TF Gene

protein-coding   GIFtS: 73
GCID: GC03P133464

Transferrin

  See TF-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
transferrin1 2     PRO20862
Transferrin3     serotransferrin2
Beta-1 Metal-Binding Globulin2 3     siderophilin2
TFQTL12 5     Siderophilin3
PRO15572     EC 3.4.218

External Ids:    HGNC: 117401   Entrez Gene: 70182   Ensembl: ENSG000000915137   OMIM: 1900005   UniProtKB: P027873   

Export aliases for TF gene to outside databases

Previous GC identifers: GC03P130424 GC03P134209 GC03P134746 GC03P134786 GC03P134727 GC03P134947 GC03P133419 GC03P130844


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TF Gene:
This gene encodes a glycoprotein with an approximate molecular weight of 76.5 kDa. It is thought to have been
created as a result of an ancient gene duplication event that led to generation of homologous C and N-terminal
domains each of which binds one ion of ferric iron. The function of this protein is to transport iron from the
intestine, reticuloendothelial system, and liver parenchymal cells to all proliferating cells in the body. This
protein may also have a physiologic role as granulocyte/pollen-binding protein (GPBP) involved in the removal of
certain organic matter and allergens from serum. (provided by RefSeq, Sep 2009)

GeneCards Summary for TF Gene:
TF (transferrin) is a protein-coding gene. Diseases associated with TF include siderosis, and atransferrinemia. GO annotations related to this gene include ferric iron binding and ubiquitin protein ligase binding. An important paralog of this gene is MFI2.

UniProtKB/Swiss-Prot: TRFE_HUMAN, P02787
Function: Transferrins are iron binding transport proteins which can bind two Fe(3+) ions in association with the
binding of an anion, usually bicarbonate. It is responsible for the transport of iron from sites of absorption
and heme degradation to those of storage and utilization. Serum transferrin may also have a further role in
stimulating cell proliferation

Gene Wiki entry for TF (Transferrin) 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 TF gene promoter:
         HOXA9   HOXA9B   NRSF form 1   FOXD3   NRSF form 2   HNF-3beta   Meis-1b   AREB6   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 7): TF promoter sequence
   Search Chromatin IP Primers for TF

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


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

Entrez Gene cytogenetic band: 3q22.1   Ensembl cytogenetic band:  3q22.1   HGNC cytogenetic band: 3q21

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

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P133464:  view genomic region     (about GC identifiers)

Start:
133,464,800 bp from pter      End:
133,497,850 bp from pter
Size:
33,051 bases      Orientation:
plus 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: TRFE_HUMAN, P02787 (See protein sequence)
Recommended Name: Serotransferrin precursor  
Size: 698 amino acids; 77064 Da
Subunit: Monomer
Sequence caution: Sequence=AAF22007.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Selected PDB 3D structures from and Proteopedia for TF (see all 33):
1A8E (3D)        1A8F (3D)        1B3E (3D)        1BP5 (3D)        1BTJ (3D)        1D3K (3D)    
Secondary accessions: O43890 Q1HBA5 Q9NQB8 Q9UHV0

Explore the universe of human proteins at neXtProt for TF: NX_P02787

Explore proteomics data for TF at MOPED

Post-translational modifications: 

  • Glycosylation2 at Ser51, Asn432, Asn491, Asn630
  • Modification sites at PhosphoSitePlus
  • 4 DME Specific Peptides for TF (P02787)
     GDVAFVK  GKKSCHT  YSGAFKCL  KADRDQYELLC 


    See TF Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001054.1  
    ENSEMBL proteins: 
     ENSP00000385834   ENSP00000417468   ENSP00000401505   ENSP00000418396   ENSP00000419338  
     ENSP00000418716   ENSP00000419714   ENSP00000264998  
    Reactome Protein details: P02787

    TF Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for TF (Holo-Transferrin)
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    OriGene MassSpec for TF
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    Novus Biologicals TF Proteins
    Novus Biologicals TF Lysates
    Sino Biological Recombinant Protein for TF
    Sino Biological Cell Lysate for TF
    ProSpec Recombinant Protein for TF
    Cloud-Clone Corp. Proteins for TF

     
    Search eBioscience for Proteins for TF 

    TF Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of TF
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    Abcam antibodies for TF
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    TF Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for TF
    Cloud-Clone Corp. CLIAs for TF
    Search eBioscience for ELISAs for TF 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR001156 Transferrin_fam
     IPR018195 Transferrin_Fe_BS
     IPR016357 Transferrin

    Graphical View of Domain Structure for InterPro Entry P02787

    ProtoNet protein and cluster: P02787

    1 Blocks protein domain: IPB001156 Transferrin

    UniProtKB/Swiss-Prot: TRFE_HUMAN, P02787
    Similarity: Belongs to the transferrin family
    Similarity: Contains 2 transferrin-like domains


    Find genes that share domains with TF           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: TRFE_HUMAN, P02787
    Function: Transferrins are iron binding transport proteins which can bind two Fe(3+) ions in association with the
    binding of an anion, usually bicarbonate. It is responsible for the transport of iron from sites of absorption
    and heme degradation to those of storage and utilization. Serum transferrin may also have a further role in
    stimulating cell proliferation

         Genatlas biochemistry entry for TF:
    transferrin with three predominant variants Tfc1,Tfc2 (P570S),TFC3

         Enzyme Number (IUBMB): EC 3.4.212

         Summary: 
    TF as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:
          selected tissues (see all 6)      
    Adipose: Brown adipocyte-like cells, White adipocyte-like cells       to see all 2 cells
    Mesoderm: Mesodermal cells (Mm), Mesodermal cells (Mm)

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15880641
    GO:0008199ferric iron binding IEA--
    GO:0031625ubiquitin protein ligase binding IEA--
         
    Find genes that share ontologies with TF           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for TF:
     Increased G1 DNA content  Increased cell death HMECs cel  Increased number of mitotic ce 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Trf):
     growth/size/body  hematopoietic system  homeostasis/metabolism  mortality/aging 

    Find genes that share phenotypes with TF           About GenesLikeMe

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

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target TF:
    hsa-mir-335-5p (MIRT018601)

    Block miRNA regulation of human, mouse, rat TF using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate TF:
    hsa-miR-186
    SwitchGear 3'UTR luciferase reporter plasmidTF 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TF
    Predesigned siRNA for gene silencing in human, mouse, rat TF

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

    Clone
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    OriGene clones in human, mouse for TF (see all 6)
    OriGene ORF clones in mouse, rat for TF
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TF (NM_005171)
    Sino Biological Human cDNA Clone for TF
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TF
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TF

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for TF 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TF

    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-12321) for TF 


    (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
    TRFE_HUMAN, P02787: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    extracellular5
    plasma membrane5
    mitochondrion4
    golgi apparatus3
    cytoskeleton2
    cytosol2
    endoplasmic reticulum2
    lysosome2
    nucleus2
    vacuole2

    Gene Ontology (GO): Selected cellular component terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IDA--
    GO:0005739mitochondrion ----
    GO:0005769early endosome IDA15880641
    GO:0005770late endosome IDA15880641

    Find genes that share ontologies with TF           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 TF About   (see all 12)  
    See pathways by source

    SuperPathContained pathways About
    1Response to elevated platelet cytosolic Ca2+
    Response to elevated platelet cytosolic Ca2+0.94
    Platelet degranulation0.94
    2Insulin receptor recycling
    Transferrin endocytosis and recycling0.74
    Iron uptake and transport0.70
    3Hemostasis
    Hemostasis0.43
    Platelet activation, signaling and aggregation0.43
    4Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47
    5EPHB forward signaling
    EPHB forward signaling0.30


    Find genes that share SuperPaths with TF           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for TF
        SIDS Susceptibility Pathways
    Iron metabolism in placenta
    HIF-1-alpha transcription factor network
    EPHB forward signaling


    3 Reactome Pathways for TF
        Platelet degranulation
    Iron uptake and transport
    Transferrin endocytosis and recycling


    2 Kegg Pathways  (Kegg details for TF):
        HIF-1 signaling pathway
    Mineral absorption

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

        GeneGlobe Interaction Network for TF

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

    Selected Interacting proteins for TF (P027871, 2, 3 ENSP000002649984) via UniProtKB, MINT, STRING, and/or I2D (see all 105)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HFEQ302012, 3, ENSP000004174044MINT-7896348 MINT-7896317 MINT-7896366 MINT-7896258 MINT-7896330 I2D: score=2 STRING: ENSP00000417404
    GASTP013501, 2, 3, ENSP000003313584EBI-714319,EBI-3436637 MINT-7212849 MINT-7212881 MINT-7212832 MINT-7212864 MINT-7212909 I2D: score=1 STRING: ENSP00000331358
    CALRP277973, ENSP000003208664I2D: score=3 STRING: ENSP00000320866
    GRB2P629933, ENSP000003390074I2D: score=3 STRING: ENSP00000339007
    SH3BP2P783143, ENSP000003486854I2D: score=3 STRING: ENSP00000348685
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001895retina homeostasis IEP--
    GO:0002576platelet degranulation TAS--
    GO:0006826iron ion transport ----
    GO:0006879cellular iron ion homeostasis TAS--
    GO:0007596blood coagulation TAS--

    Find genes that share ontologies with TF           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 TF (TRFE)

    4 HMDB Compounds for TF    About this table
    CompoundSynonyms CAS #PubMed Ids
    BismuthBi (see all 2)7440-69-9--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    Hydrogen carbonateBicarbonate (see all 19)71-52-3--
    IronArmco iron (see all 19)7439-89-6--

    4 DrugBank Compounds for TF    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Bismuth SubsalicylateBismuth (see all 6)14882-18-9carrier--11110794 15519234 15544343 12620681 17330963
    Iron DextranDexferrum (see all 2)9004-66-4carriersubstrate272031 10084288 11576368 2208657 17316146
    Aluminium-- 7429-90-5target--11327511 17629565 16301797 16139893
    Gallium nitrate-- 13494-90-1carriersubstrate19621374 18475921 16373528

    Selected Novoseek inferred chemical compound relationships for TF gene (see all 127)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    iron 95.5 6347 15292463 (9), 10556206 (8), 10945243 (8), 8623803 (8) (see all 99)
    apotransferrin 89.4 58 16925790 (2), 7508710 (2), 8151309 (2), 1769555 (1) (see all 44)
    iron sucrose 88.5 51 11071973 (5), 8918625 (3), 19010259 (2), 14767009 (2) (see all 29)
    iron dextran 79.5 16 9398141 (2), 9415935 (2), 7611266 (1), 1522796 (1) (see all 13)
    ferric gluconate 76.1 9 17267740 (1), 19260610 (1), 19034302 (1), 8671901 (1) (see all 7)
    fe3+ 74.1 78 15231685 (8), 19820086 (3), 10945247 (2), 11128996 (2) (see all 49)
    deferoxamine 70.7 69 8306330 (6), 1649718 (2), 1629195 (2), 8280612 (2) (see all 37)
    ferric ammonium citrate 70.4 29 11335103 (4), 1629195 (2), 7488642 (2), 9657901 (2) (see all 11)
    protoporphyrin ix 68.9 62 1519605 (4), 7832579 (2), 1619469 (2), 2044721 (1) (see all 56)
    kp-1019 68.9 6 16440400 (3), 18512673 (1), 18433763 (1), 16603249 (1)



    Find genes that share compounds with TF           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 TF gene: 
    NM_001063.3  

    Unigene Cluster for TF:

    Transferrin
    Hs.518267  [show with all ESTs]
    Unigene Representative Sequence: CR936810
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000402696(uc003epu.2 uc011bls.1 uc003epv.2 uc011blt.2 uc003epw.2)
    ENST00000466911 ENST00000474287 ENST00000460531 ENST00000414694 ENST00000494430
    ENST00000493011 ENST00000482271 ENST00000485977 ENST00000475382 ENST00000498622
    ENST00000461695 ENST00000462495 ENST00000467842 ENST00000264998
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate TF:
    hsa-miR-186
    SwitchGear 3'UTR luciferase reporter plasmidTF 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: TF (NM_005171)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TF
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TF
    Primer
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    OriGene qPCR primer pairs and template standards for TF
    OriGene qSTAR qPCR primer pairs in human, mouse for TF
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TF
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      QuantiFast Probe-based Assays in human, mouse, rat TF
    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-12321) for TF 

    Additional mRNA sequence: 

    AF118093.1 AJ252279.1 AK222755.1 AK293842.1 AK295334.1 AK295419.1 AK303753.1 AK312094.1 
    BC020671.1 BC045772.1 BC059367.1 BX648533.1 CR936810.1 DQ923758.1 M12525.1 M12530.1 
    M26641.1 S95936.1 U88581.1 

    Selected DOTS entries (see all 47):

    DT.101987325  DT.100888172  DT.100888145  DT.100888157  DT.100888151  DT.40265225  DT.97864666  DT.40115686 
    DT.99970516  DT.97864665  DT.100888152  DT.98131781  DT.40125951  DT.91968032  DT.120892237  DT.120892195 
    DT.120892183  DT.100888164  DT.120892071  DT.100888165  DT.120892212  DT.100888169  DT.91914782  DT.92457961 

    Selected AceView cDNA sequences (see all 826):

    AA345207 BQ635968 BU726750 BU726734 BU727000 T71852 AW963231 BM668660 
    BG563017 CB157197 CB161816 BM668217 BM665337 CB162131 BU730103 AV681557 
    T71595 CA390515 N62765 BQ185711 BU726135 BM672205 BM727370 D16958 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TF (see all 8)    About this scheme

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

    ExUns: 17 ^ 18a · 18b
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for TF

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


    TF expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 16 entries
             Thalamus
     
     Hypoblast (Extraembryonic Tissues)    fully expand to see all 2 entries
             Extraembryonic Endoderm Cells Extraembryonic Endoderm
     
     NULL (Uncategorized)    fully expand to see all 2 entries
             Vascular endothelial growth factor-induced cells
     
     Adipose (Muscoskeletal System)
             Visceral White Adipose
     
     Eye (Sensory Organs)
             Retina
    TF Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TF Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.518267

    UniProtKB/Swiss-Prot: TRFE_HUMAN, P02787
    Tissue specificity: Expressed by the liver and secreted in plasma

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

    Orthologs for TF gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Trf1 , 5 transferrin1, 5 78.15(n)1
    74.1(a)1
      9 (55.03 cM)5
    220411  NM_133977.21  NP_598738.11 
     1032040015 
    chicken
    (Gallus gallus)
    Aves TF1 transferrin (ovotransferrin) 60.26(n)
    53.67(a)
      396241  NM_205304.1  NP_990635.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    51(a)
    1 → many
    3(30949265-30974075)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tf1 transferrin 59.25(n)
    51.49(a)
      613079  NM_001032316.1  NP_001027487.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.285382 Transcribed sequence 79.31(n)    CF722973.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Tsf26
    Transferrin 2
    28(a)
    1 → many
    3L(12523536-12526824)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TF gene
    MFI22  LTF2  
    2 SIMAP similar genes for TF using alignment to 11 protein entries:     TRFE_HUMAN (see all proteins):
    LTF    MFI2

    Find genes that share paralogs with TF           About GenesLikeMe


    3 Pseudogenes.org Pseudogenes for TF
    PGOHUM00000259871 PGOHUM00000259872 PGOHUM00000259873


    (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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    Polymorphic Variants from UniProtKB/Swiss-Prot
    TRFE_HUMAN, P02787: Different polymorphic variants of transferrin are known. The sequence shown is the predominant
    electrophoretic variant (C1 or TF*C1)


    Selected SNPs for TF (see all 916)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0388104
    Atransferrinemia (ATRAF)4--see VAR_0388102 D N mis40--------
    VAR_0129974
    Atransferrinemia (ATRAF)4--see VAR_0129972 A P mis40--------
    rs412957741,2,,4
    C,Fpathogenic1133457243(+) TGCCCA/GCGGGT 2 H R mis17Minor allele frequency- G:0.00NS NA EU 6199
    rs1219186801,2
    Cpathogenic1133458695(+) CCACCA/GAAGAC 2 K E mis10--------
    rs10492961,2,,4
    C,F,Hpathogenic1133474899(+) GGAAAC/TCTGTG 2 P S mis1 ese354Minor allele frequency- T:0.14NS MN EA NA WA CSA EU 11880
    rs1219186771,2,,4
    C,Fpathogenic1133476579(+) CTTAGG/AAGAAG 2 /E /G mis12Minor allele frequency- A:0.00NA EU 5869
    rs17998991,2,,4
    C,F,Hunknown1133456357(+) TGGGCG/AGCAAG 2 /S /G mis124Minor allele frequency- A:0.03NS MN EA NA EU 8181
    rs711364931,2
    C--130850623(-) CTCTC-/A/AA  
            
    AAAAA
    1 -- int11NA 2
    rs1900553961,2
    --130851104(+) GCAGCC/TATAAT 1 -- int10--------
    rs2015287471,2
    --130851104(+) GCAGC-/TATAATA 1 -- int10--------

    HapMap Linkage Disequilibrium report for TF (133464800 - 133497850 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for TF:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv877507CNV Loss21882294
    nsv4018CNV Loss18451855
    nsv829729CNV Loss17160897
    nsv877508CNV Loss21882294
    nsv877506CNV Gain21882294

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

    (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.)
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    OMIM gene information: 190000   
    OMIM disorders: 209300  
    UniProtKB/Swiss-Prot: TRFE_HUMAN, P02787
  • Atransferrinemia (ATRAF) [MIM:209300]: A rare autosomal recessive disorder characterized by abnormal
    synthesis of transferrin leading to iron overload and microcytic hypochromic anemia. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • Selected diseases for TF (see all 38):    
    About MalaCards
    siderosis    atransferrinemia    yellow nail syndrome    superficial siderosis
    superficial siderosis of the central nervous system    lipoid nephrosis    alcohol abuse    hypochromic microcytic anemia
    marasmus    microcytic anemia    pleuropneumonia    fibrocalculous pancreatic diabetes
    congenital disorder of glycosylation type i    hemosiderosis    dysentery    deficiency anemia
    iron deficiency anemia    restless legs syndrome    trypanosomiasis    radiation proctitis

    20 diseases from the University of Copenhagen DISEASES database for TF:
    Hemochromatosis     Anemia     Substance abuse     Congenital disorder of glycosylation
    Liver disease     Kidney failure     protein-energy malnutrition     Cancer
    Thalassemia     Proteinuria     Lung disease     Diabetes mellitus
    Cholera     Hemosiderosis     Vascular disease     Atransferrinemia
    Alcohol dependence     protein-losing enteropathy     Brain disease     Porphyria cutanea tarda

    Find genes that share disorders with TF           About GenesLikeMe

    Selected Novoseek inferred disease relationships for TF gene (see all 97)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    iron deficiency 92.5 238 17376421 (4), 19283067 (3), 18971604 (3), 8167189 (3) (see all 99)
    iron overload 92.2 174 18720534 (3), 11427792 (3), 17679134 (3), 7745107 (3) (see all 99)
    hemochromatosis 90.8 140 9496946 (6), 12190182 (5), 18201677 (2), 16451136 (2) (see all 99)
    hereditary hemochromatosis 89.9 43 11027676 (2), 17038583 (2), 8168821 (1), 12547236 (1) (see all 34)
    anemia 84 147 10556206 (3), 20098432 (2), 2224400 (2), 10460349 (2) (see all 99)
    iron deficiency anemia 82.4 41 17682669 (2), 20209848 (2), 9492551 (2), 1486679 (2) (see all 29)
    carbohydrate-deficient glycoprotein syndrome 77.4 11 1472054 (1), 7884970 (1), 12880136 (1), 8981095 (1) (see all 10)
    malnutrition 71.9 35 9469497 (3), 8793418 (1), 11147687 (1), 16234837 (1) (see all 30)
    response acute phase 71 17 9074650 (2), 11176144 (1), 10681647 (1), 9915269 (1) (see all 12)
    african iron overload 66.6 6 14515008 (2), 11017929 (2), 1727237 (1)

    Genatlas disease: TF
    hypotransferrinemia,familial

    Genetic Association Database (GAD): TF
    Human Genome Epidemiology (HuGE) Navigator: TF (346 documents)

    Export disorders for TF 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 TF gene, integrated from 10 sources (see all 2853):
    (articles sorted by number of sources associating them with TF)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human transferrin G277S mutation: a risk factor for iron deficiency anaemia. (PubMed id 11703331)1, 2, 4 Lee P.L.... Beutler E. (Br. J. Haematol. 2001)
    2. Human transferrin: cDNA characterization and chromosomal localization. (PubMed id 6585826)1, 2, 3 Yang F.... Bowman B.H. (Proc. Natl. Acad. Sci. U.S.A. 1984)
    3. Alternative splicing prevents transferrin secretion during differentiation of a human oligodendrocyte cell line. (PubMed id 10931525)1, 2, 9 de Arriba Zerpa G.A.... Baron B. (J. Neurosci. Res. 2000)
    4. Suggestive synergy between genetic variants in TF and HFE as risk factors for Alzheimer's disease. (PubMed id 20029940)1, 4, 9 Kauwe J.S....Goate A.M. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
    5. Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. (PubMed id 19084217)1, 4, 9 Benyamin B....Visscher P.M. (Am. J. Hum. Genet. 2009)
    6. Iron genes, iron load and risk of Alzheimer's disease. (PubMed id 17047092)1, 4, 9 Lehmann D.J....Robson K.J. (J. Med. Genet. 2006)
    7. Iron metabolism genes, low-level lead exposure, and QT interval. (PubMed id 19165391)1, 4, 9 Park S.K....Weisskopf M.G. (Environ. Health Perspect. 2009)
    8. Genetic variants of transferrin in cystic fibrosis. (PubMed id 18344013)1, 4, 9 MarklovA! E....VA!vrovA! V. (J. Inherit. Metab. Dis. 2008)
    9. Soluble transferrin receptor and mutations in hemochromatosis and transferrin genes in a general Catalan population. (PubMed id 15698609)1, 4, 9 BAcrez V....Joven J. ( international journal of clinical chemistry 2005)
    10. [Genetic predisposition to development of toxic liver cirrhosis caused by alcohol]. (PubMed id 11436564)1, 4, 9 Spitsyn V.A....Afanas'eva I.S. (Genetika 2001)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7018 HGNC: 11740 AceView: TF Ensembl:ENSG00000091513 euGenes: HUgn7018
    ECgene: TF Kegg: 7018 H-InvDB: TF

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TF Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Transferrin
    SeattleSNPshttp://pga.gs.washington.edu/data/tf/

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

    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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