Entity Details

Primary name TFR2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9UP52
EntryNameTFR2_HUMAN
FullNameTransferrin receptor protein 2
TaxID9606
Evidenceevidence at protein level
Length801
SequenceStatuscomplete
DateCreated2002-02-11
DateModified2021-06-02

Ontological Relatives

GenesTFR2

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

Subcellular Location

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Subcellular Location
Cell membrane
Cytoplasm

Domains

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DomainNameCategoryType
IPR003137 PA domainDomainDomain
IPR007484 Peptidase M28DomainDomain
IPR036757 Transferrin receptor-like, dimerisation domain superfamilyFamilyHomologous superfamily
IPR037324 Transferrin receptor protein 1/2, PA domainDomainDomain
IPR039373 Glutamate carboxypeptidase 2-likeFamilyFamily

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.

Drugs

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DrugNameSourceType
DB05260 Gallium nitrateDrugbanksmall molecule
DB06784 Gallium citrate Ga-67Swissprotsmall molecule
DB13257 Ferrous sulfate anhydrousDrugbanksmall molecule
DB15617 Ferric derisomaltoseDrugbanksmall molecule