• Gene id: 7036

Gene Summary

• Gene Symbol: TFR2   Gene   UCSC   Ensembl
• Aliases: HFE3, TFRC2
• Gene name: transferrin receptor 2
• Alternate names: transferrin receptor protein 2,
• Gene location: 7q22.1 (100641551: 100620415)     Exons: 18     NC_000007.14
• Gene summary(Entrez): 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 erythrocy
• OMIM: 607469

Protein Summary

• Protein general information: Q9UP52  
  • Name: Transferrin receptor protein 2 (TfR2)
  • Length: 801  
  • Mass: 88755
  • Tissue specificity: Predominantly expressed in liver. While the alpha form is also expressed in spleen, lung, muscle, prostate and peripheral blood mononuclear cells, the beta form is expressed in all tissues tested, albeit weakly.
• Sequence:

  MERLWGLFQRAQQLSPRSSQTVYQRVEGPRKGHLEEEEEDGEEGAETLAHFCPMELRGPEPLGSRPRQPNLIPWA
  AAGRRAAPYLVLTALLIFTGAFLLGYVAFRGSCQACGDSVLVVSEDVNYEPDLDFHQGRLYWSDLQAMFLQFLGE
  GRLEDTIRQTSLRERVAGSAGMAALTQDIRAALSRQKLDHVWTDTHYVGLQFPDPAHPNTLHWVDEAGKVGEQLP
  LEDPDVYCPYSAIGNVTGELVYAHYGRPEDLQDLRARGVDPVGRLLLVRVGVISFAQKVTNAQDFGAQGVLIYPE
  PADFSQDPPKPSLSSQQAVYGHVHLGTGDPYTPGFPSFNQTQFPPVASSGLPSIPAQPISADIASRLLRKLKGPV
  APQEWQGSLLGSPYHLGPGPRLRLVVNNHRTSTPINNIFGCIEGRSEPDHYVVIGAQRDAWGPGAAKSAVGTAIL
  LELVRTFSSMVSNGFRPRRSLLFISWDGGDFGSVGSTEWLEGYLSVLHLKAVVYVSLDNAVLGDDKFHAKTSPLL
  TSLIESVLKQVDSPNHSGQTLYEQVVFTNPSWDAEVIRPLPMDSSAYSFTAFVGVPAVEFSFMEDDQAYPFLHTK
  EDTYENLHKVLQGRLPAVAQAVAQLAGQLLIRLSHDRLLPLDFGRYGDVVLRHIGNLNEFSGDLKARGLTLQWVY
  SARGDYIRAAEKLRQEIYSSEERDERLTRMYNVRIMRVEFYFLSQYVSPADSPFRHIFMGRGDHTLGALLDHLRL
  LRSNSSGTPGATSSTGFQESRFRRQLALLTWTLQGAANALSGDVWNIDNNF

• Structural information:
  • Interpro: IPR003137  IPR007484  IPR039373  IPR036757  IPR037324  
  • CDD: cd02128
  • STRING: ENSP00000420525
• Other Databases: GeneCards:  TFR2  Malacards:  TFR2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0140298	endocytic iron import into cell	IBA	biological process
GO:0009897	external side of plasma membrane	IBA	cellular component
GO:0004998	transferrin receptor activity	IEA	molecular function
GO:0033572	transferrin transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0033572	transferrin transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0055072	iron ion homeostasis	IEA	biological process
GO:1990712	HFE-transferrin receptor complex	IEA	cellular component
GO:0006953	acute-phase response	IEA	biological process
GO:0055072	iron ion homeostasis	IC	biological process
GO:0009897	external side of plasma membrane	IGI	cellular component
GO:0005887	integral component of plasma membrane	IGI	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0039706	co-receptor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045807	positive regulation of endocytosis	IGI	biological process
GO:0071281	cellular response to iron ion	IGI	biological process
GO:0140298	endocytic iron import into cell	IGI	biological process
GO:1903319	positive regulation of protein maturation	IGI	biological process
GO:0004998	transferrin receptor activity	IDA	molecular function
GO:0033572	transferrin transport	IGI	biological process
GO:0090277	positive regulation of peptide hormone secretion	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IGI	biological process
GO:1990712	HFE-transferrin receptor complex	IDA	cellular component
GO:0140298	endocytic iron import into cell	IGI	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0031410	cytoplasmic vesicle	IDA	cellular component
GO:1990712	HFE-transferrin receptor complex	IDA	cellular component
GO:0039706	co-receptor binding	IPI	molecular function
GO:0055072	iron ion homeostasis	IMP	biological process
GO:0010039	response to iron ion	IMP	biological process
GO:0006898	receptor-mediated endocytosis	IGI	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006879	cellular iron ion homeostasis	TAS	biological process
GO:0006826	iron ion transport	NAS	biological process
GO:0004998	transferrin receptor activity	NAS	molecular function
GO:0005887	integral component of plasma membrane	NAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0140298	endocytic iron import into cell	IBA	biological process
GO:0009897	external side of plasma membrane	IBA	cellular component
GO:0004998	transferrin receptor activity	IEA	molecular function
GO:0033572	transferrin transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0033572	transferrin transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0055072	iron ion homeostasis	IEA	biological process
GO:1990712	HFE-transferrin receptor complex	IEA	cellular component
GO:0006953	acute-phase response	IEA	biological process
GO:0055072	iron ion homeostasis	IC	biological process
GO:0009897	external side of plasma membrane	IGI	cellular component
GO:0005887	integral component of plasma membrane	IGI	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0039706	co-receptor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045807	positive regulation of endocytosis	IGI	biological process
GO:0071281	cellular response to iron ion	IGI	biological process
GO:0140298	endocytic iron import into cell	IGI	biological process
GO:1903319	positive regulation of protein maturation	IGI	biological process
GO:0004998	transferrin receptor activity	IDA	molecular function
GO:0033572	transferrin transport	IGI	biological process
GO:0090277	positive regulation of peptide hormone secretion	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IGI	biological process
GO:1990712	HFE-transferrin receptor complex	IDA	cellular component
GO:0140298	endocytic iron import into cell	IGI	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0031410	cytoplasmic vesicle	IDA	cellular component
GO:1990712	HFE-transferrin receptor complex	IDA	cellular component
GO:0039706	co-receptor binding	IPI	molecular function
GO:0055072	iron ion homeostasis	IMP	biological process
GO:0010039	response to iron ion	IMP	biological process
GO:0006898	receptor-mediated endocytosis	IGI	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006879	cellular iron ion homeostasis	TAS	biological process
GO:0006826	iron ion transport	NAS	biological process
GO:0004998	transferrin receptor activity	NAS	molecular function
GO:0005887	integral component of plasma membrane	NAS	cellular component

Diseases

Associated diseases	References
Hemochromatosis	KEGG:H00211
Hemochromatosis	KEGG:H00211
Hemochromatosis	PMID:10802645
acute myeloid leukemia	PMID:15015967
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray