Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Transferrin receptor 2

The TRF2 gene encodes a transferrin receptor that is responsible for iron uptake in maturing erythrocytes and hepatocytes. Mutations cause autosomal dominant hemochromatosis 3.


In contrast to the classic transferrin receptor TFR1 which is abundant in all tissues, the TFR2 encoded receptor is predominantly expressed in the liver where it is involved in control of the secretion of the iron controlling hormone hepcidin.


Under pathophysiological conditions, when all iron stores are full and the classical transferrin receptor is downreagulated, this receptor is responsible for iron uptake to liver cells in which despite the overload the the iron content still grows.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Hemochromatosis 3



Feder JN et al. (1996) A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.


Camaschella C et al. (2000) The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.


Mattman A et al. (2002) Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation.


Hofmann WK et al. (2002) Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis.


Kawabata H et al. (1999) Molecular cloning of transferrin receptor 2. A new member of the transferrin receptor-like family.


Fleming RE et al. (2000) Transferrin receptor 2: continued expression in mouse liver in the face of iron overload and in hereditary hemochromatosis.


Roetto A et al. (2001) New mutations inactivating transferrin receptor 2 in hemochromatosis type 3.


Fleming RE et al. (2002) Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosis.


NCBI article

NCBI 7036 [^]

OMIM.ORG article

Omim 604720 [^]

Orphanet article

Orphanet ID 120043 [^]

Wikipedia article

Wikipedia EN (Transferrin_receptor_2) [^]
Update: April 29, 2019