Entity Details

Primary name TFR2
Entity type gene
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Details

PrimaryID7036
RefseqGeneNG_007989
SymbolTFR2
Nametransferrin receptor 2
Chromosome7
Location7q22.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-06-04
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsTFR2_HUMAN

GO terms

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GOName
GO:0004998 transferrin receptor activity
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006826 iron ion transport
GO:0006879 cellular iron ion homeostasis
GO:0006898 receptor-mediated endocytosis
GO:0006953 acute-phase response
GO:0008235 metalloexopeptidase activity
GO:0009897 external side of plasma membrane
GO:0010039 response to iron ion
GO:0031410 cytoplasmic vesicle
GO:0033572 transferrin transport
GO:0039706 co-receptor binding
GO:0045807 positive regulation of endocytosis
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0055072 iron ion homeostasis
GO:0071281 cellular response to iron ion
GO:0090277 positive regulation of peptide hormone secretion
GO:0140298 endocytic iron import into cell
GO:1903319 positive regulation of protein maturation
GO:1990712 HFE-transferrin receptor complex

Diseases

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Disease IDSourceNameDescription
604250 OMIMHemochromatosis 3 (HFE3)A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. The disease is caused by variants affecting the gene represented in this entry.