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    TFR2 transferrin receptor 2 [ Homo sapiens (human) ]

    Gene ID: 7036, updated on 7-Sep-2023

    Summary

    Official Symbol
    TFR2provided by HGNC
    Official Full Name
    transferrin receptor 2provided by HGNC
    Primary source
    HGNC:HGNC:11762
    See related
    Ensembl:ENSG00000106327 MIM:604720; AllianceGenome:HGNC:11762
    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]
    Expression
    Restricted expression toward liver (RPKM 143.5) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TFR2 in Genome Data Viewer
    Location:
    7q22.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (100620420..100641552, complement)
    RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (101860501..101881634, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (100218043..100239175, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene PCOLCE antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100201095-100201887 Neighboring gene procollagen C-endopeptidase enhancer Neighboring gene motile sperm domain containing 3 Neighboring gene uncharacterized LOC124901709 Neighboring gene uncharacterized LOC124901710 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100224056-100224820 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100224821-100225583 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100246946-100247492 Neighboring gene actin like 6B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100247493-100248037 Neighboring gene uncharacterized LOC105375429

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Hemochromatosis type 3 Compare labs

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC126368

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables co-receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transferrin receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transferrin receptor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in acute-phase response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to iron ion IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in endocytic iron import into cell IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in endocytic iron import into cell IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in intracellular iron ion homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in intracellular iron ion homeostasis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in iron ion transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in multicellular organismal-level iron ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of endocytosis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of peptide hormone secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein maturation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in receptor-mediated endocytosis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in regulation of postsynaptic membrane neurotransmitter receptor levels IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to iron ion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in transferrin transport IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of HFE-transferrin receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in external side of plasma membrane IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    located_in plasma membrane IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in postsynapse IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    transferrin receptor protein 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      4999..26131
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001206855.3NP_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)
      AC099394
      UniProtKB/Swiss-Prot
      Q9UP52
      Related
      ENST00000476304.5
      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_003227.4NP_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)
      AC099394, AF067864, BI917390, DR004213
      Consensus CDS
      CCDS34707.1
      UniProtKB/Swiss-Prot
      A6NGM7, O75422, Q1HE13, Q9HA99, Q9NX67, Q9UP52
      Related
      ENSP00000223051.3, ENST00000223051.8
      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:674787
      TFR_dimer; Transferrin receptor-like dimerisation domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      100620420..100641552 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      101860501..101881634 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)