Version 5.4
Homo sapiens Gene: TFR2
Summary
InnateDB Gene IDBG-31680.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TFR2
Gene Name transferrin receptor 2
Synonyms HFE3; TFRC2
Species Homo sapiens
Ensembl Gene ENSG00000106327
Encoded Proteins
IDBP-31682
transferrin receptor 2
IDBP-383650
transferrin receptor 2
IDBP-475325
transferrin receptor 2
IDBP-481931
transferrin receptor 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:100620416-100642779
Strand Reverse strand
Band q22.1
Transcripts
ENST00000223051 ENSP00000223051
ENST00000431692 ENSP00000413905
ENST00000462107 ENSP00000420525
ENST00000465294
ENST00000490084 ENSP00000418942
ENST00000462090
ENST00000476304
ENST00000461176
ENST00000473374
ENST00000473963
ENST00000473571
ENST00000475011
ENST00000474947
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
Experimentally validated
Total 7 [view]
Protein-Protein 7 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004998 transferrin receptor activity
GO:0008233 peptidase activity
Biological Process
GO:0006508 proteolysis
GO:0006826 iron ion transport
GO:0006879 cellular iron ion homeostasis
GO:0006898 receptor-mediated endocytosis
Cellular Component
GO:0005737 cytoplasm
GO:0005887 integral component of plasma membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000029716
View Gene Order
ENSBTAG00000011738
Not yet available
Cross-References
SwissProt Q9UP52
TrEMBL E7ET36
UniProt Splice Variant
Entrez Gene 7036
UniGene Hs.544932
RefSeq NM_001206855 NM_003227 XM_005250553 XM_005250554 XM_006716103
HUGO HGNC:11762
OMIM 604720
CCDS CCDS34707
HPRD
IMGT
EMBL AC099394 AF053356 AF067864 AK000421 AK022002 BC142630 DQ496110
GenPept AAC78796 AAD45561 AAI42631 ABF47099 BAA91153 BAB13951
RNA Seq Atlas 7036

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca