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    TFR2 transferrin receptor 2 [ Homo sapiens (human) ]

    Gene ID: 7036, updated on 22-Sep-2016
    Official Symbol
    TFR2provided by HGNC
    Official Full Name
    transferrin receptor 2provided by HGNC
    Primary source
    HGNC:HGNC:11762
    See related
    Ensembl:ENSG00000106327 HPRD:05282; MIM:604720; Vega:OTTHUMG00000159598
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HFE3; TFRC2
    Summary
    This gene encodes a single-pass type II membrane protein, which is a member of the transferrin receptor-like family. This protein mediates cellular uptake of transferrin-bound iron, and may be involved in iron metabolism, hepatocyte function and erythrocyte differentiation. Mutations in this gene have been associated with hereditary hemochromatosis type III. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011]
    Orthologs
    Location:
    7q22
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (100620416..100642780, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (100218039..100240332, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene PCOLCE antisense RNA 1 Neighboring gene procollagen C-endopeptidase enhancer Neighboring gene motile sperm domain containing 3 Neighboring gene actin like 6B Neighboring gene uncharacterized LOC105375429

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Hemochromatosis type 3 Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
    NHGRI GWA Catalog
    Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.
    NHGRI GWA Catalog
    Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
    NHGRI GWA Catalog
    Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.
    NHGRI GWA Catalog
    Seventy-five genetic loci influencing the human red blood cell.
    NHGRI GWA Catalog

    Replication interactions

    Interaction Pubs
    Knockdown of transferrin receptor 2 (TFR2) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    • Iron metabolism in placenta, organism-specific biosystem (from WikiPathways)
      Iron metabolism in placenta, organism-specific biosystemDuring pregnancy, iron is transported from mother to fetus across the placenta. Iron is essential for many biological processes, including the transfer of oxygen in blood, but it can also be toxic. E...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC126368

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    co-receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    glycoprotein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transferrin receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transferrin receptor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    acute-phase response IEA
    Inferred from Electronic Annotation
    more info
     
    cellular iron ion homeostasis TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular response to iron ion IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    ferrous iron import into cell IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    iron ion homeostasis IC
    Inferred by Curator
    more info
    PubMed 
    iron ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    iron ion transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    positive regulation of endocytosis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of peptide hormone secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of protein maturation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    receptor-mediated endocytosis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    response to iron ion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transferrin transport IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    HFE-transferrin receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    external side of plasma membrane IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    integral component of plasma membrane IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    integral component of plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Preferred Names
    transferrin receptor protein 2

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007989.1 RefSeqGene

      Range
      5001..26135
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001206855.1NP_001193784.1  transferrin receptor protein 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs at the 5' end compared to variant 1, and initiates translation from an in-frame downstream AUG, resulting in an isoform (2, also known as beta) with a shorter N-terminus (lacking the transmembrane domain) compared to isoform 1. While there is transcript support for this variant (PMID:10409623), the protein is predicted.
      Source sequence(s)
      AF067864, BX384750
      UniProtKB/Swiss-Prot
      Q9UP52
      Conserved Domains (3) summary
      cd09848
      Location:238471
      M28_TfR; M28 Zn-peptidase Transferrin Receptor family
      cd02128
      Location:40230
      PA_TfR; PA_TfR: Protease-associated domain containing proteins like transferrin receptor (TfR). This group contains various PA domain-containing proteins similar to human TfR1 and TfR2. TfR1 and TfR2 are type II membrane proteins, belonging to the peptidase M28 ...
      pfam04253
      Location:503620
      TFR_dimer; Transferrin receptor-like dimerization domain
    2. NM_003227.3NP_003218.2  transferrin receptor protein 2 isoform 1

      See identical proteins and their annotated locations for NP_003218.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1, also known as alpha).
      Source sequence(s)
      AF067864, BI917390, DR004213
      Consensus CDS
      CCDS34707.1
      UniProtKB/Swiss-Prot
      Q9UP52
      Related
      ENSP00000223051, ENST00000223051
      Conserved Domains (3) summary
      cd09848
      Location:409642
      M28_TfR; M28 Zn-peptidase Transferrin Receptor family
      cd02128
      Location:211401
      PA_TfR; PA_TfR: Protease-associated domain containing proteins like transferrin receptor (TfR). This group contains various PA domain-containing proteins similar to human TfR1 and TfR2. TfR1 and TfR2 are type II membrane proteins, belonging to the peptidase M28 ...
      pfam04253
      Location:674791
      TFR_dimer; Transferrin receptor-like dimerization domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

      Range
      100620416..100642780 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005250553.4XP_005250610.1  

      See identical proteins and their annotated locations for XP_005250610.1

      UniProtKB/Swiss-Prot
      Q9UP52
      Related
      ENSP00000420525, OTTHUMP00000215913, ENST00000462107, OTTHUMT00000356392
      Conserved Domains (3) summary
      cd09848
      Location:409642
      M28_TfR; M28 Zn-peptidase Transferrin Receptor family
      cd02128
      Location:211401
      PA_TfR; PA_TfR: Protease-associated domain containing proteins like transferrin receptor (TfR). This group contains various PA domain-containing proteins similar to human TfR1 and TfR2. TfR1 and TfR2 are type II membrane proteins, belonging to the peptidase M28 ...
      pfam04253
      Location:674791
      TFR_dimer; Transferrin receptor-like dimerization domain
    2. XM_017012573.1XP_016868062.1  

      Conserved Domains (3) summary
      cd09848
      Location:409642
      M28_TfR; M28 Zn-peptidase Transferrin Receptor family
      cd02128
      Location:211401
      PA_TfR; PA_TfR: Protease-associated domain containing proteins like transferrin receptor (TfR). This group contains various PA domain-containing proteins similar to human TfR1 and TfR2. TfR1 and TfR2 are type II membrane proteins, belonging to the peptidase M28 ...
      pfam04253
      Location:674791
      TFR_dimer; Transferrin receptor-like dimerization domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      100148586..100169685 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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