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TFR2 transferrin receptor 2 [ Homo sapiens (human) ]

Gene ID: 7036, updated on 12-Apr-2014
Official Symbol
TFR2provided by HGNC
Official Full Name
transferrin receptor 2provided by HGNC
Primary source
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]
Location :
7q22
Sequence :
Chromosome: 7; NC_000007.14 (100620416..100642773, complement)
See TFR2 in Epigenomics, MapViewer

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 guanine nucleotide binding protein (G protein), beta polypeptide 2

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
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 Protein 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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
peptidase activity IEA
Inferred from Electronic Annotation
more info
 
transferrin receptor activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cellular iron ion homeostasis TAS
Traceable Author Statement
more info
PubMed 
iron ion transport NAS
Non-traceable Author Statement
more info
PubMed 
receptor-mediated endocytosis NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
Preferred Names
transferrin receptor protein 2
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
    Blast Score: 1055
    M28_TfR; M28 Zn-peptidase Transferrin Receptor family
    pfam04253
    Location:497622
    Blast Score: 309
    TFR_dimer; Transferrin receptor-like dimerization domain
    cd02128
    Location:40230
    Blast Score: 787
    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 ...
  2. NM_003227.3NP_003218.2  transferrin receptor protein 2 isoform 1

    See proteins identical to 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
    Blast Score: 1060
    M28_TfR; M28 Zn-peptidase Transferrin Receptor family
    pfam04253
    Location:668793
    Blast Score: 309
    TFR_dimer; Transferrin receptor-like dimerization domain
    cd02128
    Location:211401
    Blast Score: 791
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000007.14

    Range
    100620416..100642773, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006716103.1XP_006716166.1  

    See proteins identical to XP_006716166.1

    Conserved Domains (3) summary
    cd09848
    Location:409642
    Blast Score: 1060
    M28_TfR; M28 Zn-peptidase Transferrin Receptor family
    pfam04253
    Location:668793
    Blast Score: 309
    TFR_dimer; Transferrin receptor-like dimerization domain
    cd02128
    Location:211401
    Blast Score: 791
    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 ...
  2. XM_005250553.2XP_005250610.1  

    See proteins identical to XP_005250610.1

    UniProtKB/Swiss-Prot
    Q9UP52
    Related
    ENSP00000420525, OTTHUMP00000215913
    Conserved Domains (3) summary
    cd09848
    Location:409642
    Blast Score: 1060
    M28_TfR; M28 Zn-peptidase Transferrin Receptor family
    pfam04253
    Location:668793
    Blast Score: 309
    TFR_dimer; Transferrin receptor-like dimerization domain
    cd02128
    Location:211401
    Blast Score: 791
    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 ...
  3. XM_005250554.2XP_005250611.1  

    Conserved Domains (3) summary
    cd09848
    Location:409642
    Blast Score: 1063
    M28_TfR; M28 Zn-peptidase Transferrin Receptor family
    pfam04253
    Location:668712
    Blast Score: 120
    TFR_dimer; Transferrin receptor-like dimerization domain
    cd02128
    Location:211401
    Blast Score: 788
    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 ...

Alternate HuRef

Genomic

  1. AC_000139.1 Alternate HuRef

    Range
    94849520..94870648, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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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