TFR2

TFR2

A gene on chromosome 7q22 that encodes transferrin receptor 2, a protein that mediates cellular uptake of transferrin-bound iron in a non-iron-dependent manner and is involved in iron metabolism, hepatocyte function and erythrocyte differentiation.

Molecular pathology
Defects in TFR2 cause haemochromatosis type 3.
References in periodicals archive ?
Hepatocyte-targeted HFE and TFR2 control hepcidin expression in mice.
On the other hand, ferric-transferrin complex (holo-transferrin) in excess displaces the human hemochomatosis gene product (HFE) from TFR1 allowing it to bind to TFR2 to upregulate hepcidin synthesis [1,5].
El TFR2 se diferencia del TfR1 por tener menos afinidad por la Tf diferrica (25 veces menor), ser codificado por 801 aa y tener un patron de expresion diferente, pues predomina en hepatocitos y eritrocitos; ademas, porque no tiene IRE en el ARNm, por lo tanto, no es regulado de manera postrascripcional por la concentracion de hierro intracelular (9,33,47,48).
genes that clustered in cluster 1 (CP, TFRC, TFR2, SDHB, FTL, FTHL5, LTF, UQCRFS1).
The data also revealed transferrin receptor type 2 (TFR2) as the optimal target in the hepcidin pathway, as TFR2 silencing was associated with marked decreases in hepcidin expression and greater levels of transferrin saturation as compared with direct targeting of the hepcidin mRNA itself.
The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.
Genetic and functional identification of some iron-related proteins OMIM# Gene Locus Function Hephaestin 300167 HEPH Xql l-ql2 Oxidizes Fe+2 to Fe+3 Hepcidin 606464 HAMP 19ql3 Induces internalization, ubiquitination and degradation of ferroportin via Janus kinase 2 Transferrin 190000 IT 3q21 Transports iron from enterocyte to cells Transferrin 190010 TFR1 3q29 Transports Tf receptor 1 through the cell (CD71) membrane Transferrin 604720 TFR2 7q22 Transports Tf receptor 2 through the cell membrane especially in hepatocytes STEAP3 609671 STEAP3 2ql4.
The gene TFR2 is mutated in anew type of haemochromatosis mapping to 7q22.
hemojuvelin (HJV), TFR2 and HFE, an atypical major histocompatability complex proteins, and the molecular mechanisms of these interactions are discussed in detail later.
6] Human genes: TMPRSS6, transmembrane protease, serine 6; HFE, hemochromatosis; PER1, period homolog 1 (Drosophila); TIMELESS, timeless homolog (Drosophila); CLOCK, clock homolog (mouse); HAMP, hepcidin antimicrobial peptide; TFR2, transferrin receptor 2; HFE2, hemochromatosis type 2 (juvenile).
Another autosomal recessive disorder, hemochromatosis Type 3, is attributed to mutations in the TFR2 located in band region q22 on chromosome 7.