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TFR2 transferrin receptor 2 [ Homo sapiens (human) ]

Gene ID: 7036, updated on 19-Jul-2021

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
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
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Genomic context

See TFR2 in Genome Data Viewer
Location:
7q22.1
Exon count:
18
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (100620420..100641552, complement)
105.20201022 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 procollagen C-endopeptidase enhancer Neighboring gene motile sperm domain containing 3 Neighboring gene Sharpr-MPRA regulatory region 4647 Neighboring gene actin like 6B 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
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
GeneReviews: Not available
Hemochromatosis type 3 Compare labs
Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.
GeneReviews: Not available
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
GeneReviews: Not available
Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.
GeneReviews: Not available
Seventy-five genetic loci influencing the human red blood cell.
GeneReviews: Not available

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

Homology

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 metalloexopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
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 iron ion homeostasis TAS
Traceable Author Statement
more info
PubMed 
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 iron ion homeostasis IC
Inferred by Curator
more info
PubMed 
involved_in iron ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in iron ion transport NAS
Non-traceable Author Statement
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 proteolysis IEA
Inferred from Electronic Annotation
more info
 
involved_in receptor-mediated endocytosis IGI
Inferred from Genetic Interaction
more info
PubMed 
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 integral component of plasma membrane IGI
Inferred from Genetic Interaction
more info
PubMed 
located_in integral component of plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
transferrin receptor protein 2

NCBI Reference Sequences (RefSeq)

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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
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

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