Homo sapiens Gene: TFR2

Summary
InnateDB Gene IDBG-31680.5
Last Modified 2012-02-14   [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
IDBP-598728 transferrin receptor 2
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: 100218039-100240402
Strand Reverse strand
Band q22.1
Transcripts
ENST00000223051  ENSP00000223051
ENST00000431692  ENSP00000413905
ENST00000462107  ENSP00000420525
ENST00000465294 
ENST00000490084  ENSP00000418942
ENST00000462090 
ENST00000476304 
ENST00000461176 
ENST00000473374 
ENST00000473963 
ENST00000473571 
ENST00000475011 
ENST00000474947 
ENST00000544242  ENSP00000443656
Interactions
Number of Interactions   This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated
Total 6 [view]
Protein‑Protein  6
[view]
Protein‑DNA 0
Protein‑RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
 
Gene Ontology
Accession GO Term
Molecular Function
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
Cellular Component
GO:0005737 cytoplasm
GO:0005887 integral to plasma membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID Gene Order Method Confidence Comments
ENSMUSG00000029716 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000011738 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q9UP52 
TrEMBL E7ET36
UniProt Splice Variant
Entrez Gene 7036 
UniGene Hs.544932
RefSeq NM_001206855  NM_003227 
HUGO 11762 
OMIM 604720
CCDS CCDS34707 
HPRD 05282
IMGT
EMBL AC099394 AF053356 AF067864 AK000421 AK022002 BC142630 DQ496110
GenPept AAC78796  AAD45561  AAI42631  ABF47099  BAA91153  BAB13951 
ImmGen TFR2 (murine) 
RNA Seq Atlas 7036