Pubmed abstracts for Protein-Protein Interaction search result :


Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.68963142
At variance with TFRC , interactions between TFR 2 and HFE do not occur , at least in their soluble forms . 0.68963142^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.56383717
In human Caco 2 cells , HFE and TfR 2 co localized to a distinct CD 63 negative vesicular compartment showing marked signal enhancement on exposure to iron saturated transferrin ligand , indicating that HFE preferentially interacts with TfR 2 in a specialized early endosomal transport pathway for transferrin iron . 0.56383717^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
TfR 2 is capable of Tf mediated iron uptake and mutations in this gene result in a rare form of hereditary hemochromatosis unrelated to the hereditary hemochromatosis protein , HFE . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
To determine the potential role for TfR 2 in iron uptake by liver , we investigated TfR and TfR 2 expression in normal mice and murine models of dietary iron overload ( 2 % carbonyl iron ) , dietary iron deficiency ( gastric parietal cell ablation ) , and HH ( HFE / ) . ^^^ Furthermore , hepatic expression of TfR 2 was not down regulated with dietary iron loading or in the HFE / model of HH . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
Here we report a new locus ( HFE 3 ) on 7q22 and show that a homozygous nonsense mutation in the gene encoding transferrin receptor 2 ( TFR 2 ) is found in people with haemochromatosis that maps to HFE3 . . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
The identification of HFE , the principal determinant of adult haemochromatosis ( HFE 1 ; OMIM 235200 ) and TfR 2 , recently implicated in a rarer form of the inherited disorder ( HFE 3 ; OMIM 604250 ) , and the promise of candidate genes for juvenile haemochromatosis ( HFE 2 ; OMIM 602390 ) and neonatal haemochromatosis ( OMIM 231100 ) provide the foundation for important studies into the control mechanism of iron balance in humans . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
TfR 2 has a pattern of expression and regulation that is distinct from TfR , and mutations in TfR 2 have been recognized as the cause of a non HFE linked form of hemochromatosis ( Camaschella , C . , Roetto , A . , Cali , A . , De Gobbi , M . , Garozzo , G . , Carella , M . , Majorano , N . , Totaro , A . , and Gasparini , P . ( 2000 ) Nat . ^^^ To investigate the relationship between TfR , TfR 2 , Tf , and HFE , we performed a series of binding experiments using soluble forms of these proteins . ^^^ We find no detectable binding between TfR 2 and HFE by co immunoprecipitation or using a surface plasmon resonance based assay . ^^^ These results imply that HFE regulates Tf mediated iron uptake only from the classical TfR and that TfR 2 does not compete for HFE binding in cells expressing both forms of TfR . . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
Recently , a new type of hemochromatosis ( HFE 3 ) has been characterized in 2 unrelated Italian families with a disorder linked to 7q . ^^^ Patients with HFE 3 have transferrin receptor 2 ( TFR 2 ) inactivated by a homozygous nonsense mutation ( Y250X ) . ^^^ Analysis of the clinical phenotype of 13 HFE 3 homozygotes characterized at the molecular level has shown a variable severity , from nonexpressing patients to severe clinical complications . ^^^ The identification of new mutations of TFR 2 confirms that this gene is associated with iron overload and offers a tool for molecular diagnosis in patients without HFE mutations . . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
A mutation of the transferrin receptor 2 gene ( TFR 2 ; exon 6 , nt 750 C > G , replaces TAC with stop signal TAG ; Y250X ) on Ch7q22 was recently identified in two Sicilian families with HFE mutation negative hemochromatosis . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
For each subject we examined intragenic HFE haplotypes and transferrin receptor ( TfR ) gene polymorphisms and searched for the Y250X mutation on the TFR 2 gene . ^^^ CONCLUSION : The variable phenotypes associated with H63D homozygosity do not appear to be linked to other HFE mutations , to the TFR 2 Y250X mutation , or to HFE or TfR gene intragenic polymorphisms . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
Mutations in two genes , hfe and TfR 2 , have recently been found to be responsible for HH . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
Identification of HFE , the gene most commonly mutated in patients with hereditary hemochromatosis , has allowed molecular diagnosis and paved the way for identification of other genes , such as TFR 2 , that are important in non HFE associated iron overload . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
We analyzed the hepcidin gene in 10 Italian patients with hemochromatosis not related to C282Y , H63D or other less frequent HFE mutations , nor to Y250X in TFR 2 . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
In particular , the identification of the haemochromatosis gene ( HFE ) and more recently the transferrin receptor 2 gene ( TfR 2 ) together with the specific mutations in these genes which result in hepatic iron overload , has enhanced our understanding of the pathophysiology of haemochromatosis . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
Transferrin receptor 2 ( TfR 2 ) and HFE mutational analysis in non C282Y iron overload : identification of a novel TfR 2 mutation . ^^^ The goal of this study was to perform a mutational analysis of the TfR 2 and HFE genes in a cohort of non C282Y iron overload patients of mixed ethnic backgrounds . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
Progress in our understanding of how HFE regulates the absorption of dietary iron has been slow , but much can be learnt from the study of the rare instances of haemochromatosis that involve mutations in newly identified iron metabolism genes , such as TFR 2 a transferrin receptor isoform and ferroportin1 / Ireg1 / mtp1 an intestinal iron transporter . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
No individual presented either the mutation at position 845 of the HFE gene or at position 750 of the TFR 2 gene , associated with other types of hemochromatosis . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
Using polymerase chain reaction sequence specific primer ( PCR SSP ) technology , we have developed an HH diagnosis assay capable of detecting 19 non synonymous HFE mutations ( including a previously unreported mutation , V295A ) and several TFR 2 , SLC11A3 and H ferritin alleles implicated in HH . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
Mutations in the HFE and the TFR 2 genes account for about 80 % of patients and a third locus on chromosome 1q is responsible for juvenile hemochromatosis . ^^^ None of the patients was homozygous or compound heterozygous for any known mutation in the HFE or TFR 2 genes . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
Recently , two new types of hemochromatosis have been identified : Juvenile hemochromatosis ( JH or HFE 2 ) , which maps to chromosome 1q21 , and an adult form defined as HFE 3 , which results from mutations of the TFR 2 gene , located at 7q22 . ^^^ We suggest that hemochromatosis patients without HFE mutations should be evaluated for other possible types of hemochromatosis since hemochromatosis type 3 ( HFE 3 ) has a clinical appearance similar to HFE 1 , and JH may have a late onset in some cases . . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
Three hundred were also tested for rare HFE and TFR 2 mutations by reverse hybridization test strips . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
HFE , the protein defective in hereditary hemochromatosis , and transferrin receptor 2 ( TfR 2 ) are two novel protein candidates that could be involved in mechanisms of iron transport across the platelet plasma membrane . ^^^ METHODS : The expression and localization of HFE , TfR 1 and TfR 2 proteins in human platelets were examined using Western blotting and immunocytochemistry . ^^^ RESULTS : Human platelets expressed HFE and TfR 2 , whereas no signal for TfR 1 was found . ^^^ The positive reactions for HFE and TfR 2 were mainly confined to the platelet plasma membrane . ^^^ CONCLUSIONS : Expression of HFE and TfR 2 proteins in human platelets may indicate that the mutations in the corresponding genes could influence platelet count , size and / or activation . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
The transferrin receptor 2 ( TFR 2 ) and hereditary hemochromatosis ( HFE ) genes were examined to see if inheritance of these gene defects may be a possible cause of iron overload in 45 HbH patients . ^^^ Since only eight out of 45 iron overloaded HbH patients carry a defect in the TFR 2 or HFE gene in the heterozygote state and their iron loading status was comparable to the matched controls without such defects , it would appear that the accumulation of excess iron in HbH disease is more likely a result of increase dietary absorption secondary to ineffective erythropoiesis . . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
Analysis of HFE and TFR 2 mutations in selected blood donors with biochemical parameters of iron overload . ^^^ The disorder is prevalently due to C282Y and H63D mutations in the HFE gene , but additional HFE and TFR 2 mutations have been reported . ^^^ DESIGN AND METHODS : Taking advantage of the collection of 178 DNA samples selected for increased transferrin saturation ( > 50 % in males and > 45 % in females ) from a previous large scale screening of Italian blood donors , we simultaneously assessed the presence of 14 hemochromatosis associated molecular defects ( 11 of HFE and 3 of TFR 2 ) by a reverse hybridization based strip assay . ^^^ One rare HFE allele ( E168Q ) , but no TFR 2 mutation was detected . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
A total of 300 were also tested for rare HFE and TFR 2 mutations by reverse hybridization test strips . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
Iron overload in acute myeloid leukemia patients is not related to HFE and TFR 2 gene mutations . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
Levels of type 1 hereditary hemochromatosis gene ( HFE ) , transferrin , hepcidin , transferrin receptors 1 and 2 ( TfR 1 , TfR 2 ) , ferroportin 1 ( FPN 1 ) , divalent metal transporter 1 ( DMT 1 ) , natural resistance associated macrophage protein 1 ( Nramp 1 ) , ceruloplasmin , hephaestin , and glyceraldehyde 3 phosphate dehydrogenase ( GAPDH ) , were measured by quantitative reverse transriptase polyerase chain reaction ( qRT PCR ) . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
Finally , we suggest that iron overload phenotypes associated with mutations in TFR 2 may be intermediate between those related to mutations in HFE and those related to mutations in juvenile hemochromatosis genes . . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
TfR 2 was also up regulated in Hfe ( / ) mice , an animal model that displays liver iron loading . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
Genetic hemochromatosis now corresponds to six diseases , namely classical hemochromatosis HFE 1 ; juvenile hemochromatosis HFE 2 due to mutations in an unidentified gene on chromosome 1 ; hemochromatosis HFE 3 due to mutations in the transferrin receptor 2 ( TfR 2 ) ; hemochromatosis HFE 4 caused by a mutation in the H subunit of ferritin ; and hemochromatosis HFE 6 whose gene is hepcidine ( HAMP ) . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
Recently , other forms of HH that are not related to HFE , but are due to mutations in genes coding iron transport proteins ( ferroportin 1 , TfR 2 , hepcidin ) have been described . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
Four types have been identified : type 1 is the common form and is an autosomal recessive disorder of low penetrance strongly associated with mutations in the HFE gene on chromosome 6 ( p21 . 3 ) ; type 2 ( juvenile haemochromatosis ) is autosomal recessive , of high penetrance with causative mutations identified in the HFE 2 gene on chromosome 1 ( q 21 ) and the HAMP gene on chromosome 19 ( q 13 ) ; type 3 is also autosomal recessive with mutations in the TfR 2 gene on chromosome 3 ( 7q22 ) ; type 4 is an autosomal dominant condition with heterozygous mutations in the ferroportin 1 gene . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
Other hepatic proteins essential for normal iron homeostasis , including HFE , transferrin receptor 2 ( TfR 2 ) , and hemojuvelin , function at least in part , by modulating the expression of hepcidin . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
The disorder is mainly attributable to the C282Y and H63D mutations in the HFE gene , but additional mutations in the HFE , transferrin receptor 2 ( TfR 2 ) , and hepcidin genes have been reported . ^^^ METHODS : We used denaturing HPLC ( DHPLC ) for rapid DNA scanning of the HFE ( exons 2 , 3 , and 4 ) , hepcidin , and TfR 2 ( exons 2 , 4 and 6 ) genes in a cohort of 657 individuals with altered indicators of iron status . ^^^ In addition , we found novel mutations : two in HFE ( R66C in exon 2 and R224G in exon 4 ) , one in the hepcidin gene ( G71D ) , and one in TfR 2 ( V22I ) , plus several intronic or silent substitutions . ^^^ Six of the seven individuals with hepcidin or TfR 2 coding mutations carried also HFE C282Y or S65C mutations . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
As observed in HFE hemochromatosis , the beta thalassemia trait seems to aggravate the clinical picture of patients lacking TFR 2 , favoring higher rates of iron accumulation probably by activation of the erythroid iron regulator . . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
The HFE and TfR 2 genes were analyzed by sequencing the coding region and splicing sites . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
Prevalence of HFE and TFR 2 gene mutation in 118 Ligurian rheumatic patients . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
Adult genetic hemochromatosis ( GH ) is related mainly to mutations of the HFE gene , and exceptionally to mutations of the TFR 2 gene . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
Analysis of HFE and TFR 2 gene mutations in patients with acute leukemia . ^^^ We studied the prevalence of 12 hereditary hemochromatosis ( HH ) gene mutations ( C282Y , V53M , V59M , H63D , H63H , S56C , Q127H , E168Q , E168X , W169X and Q283P in the HFE gene and Y250X in the TFR 2 gene ) and its correlation with the iron status in 82 adult patients with acute leukemia ( AL ) ; 48 patients ( 58 . 5 % ) were affected by acute myeloid leukemia ( AML ) and 34 patients ( 41 . 5 % ) by acute lymphoblastic leukemia ( ALL ) ; 27 patients ( 32 . 9 % ) had at least one HH gene mutation ( 6 heterozygous for C282Y , 6 homozygous for H63D , 13 heterozygous for H63D and 2 heterozygous for S56C ) . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
No coding region mutation of HFE , FPN 1 , TFR 2 , HAMP , or HJV genes was detected . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
To understand the role of hemochromatosis and transferrin receptor system mutations in breast cancer , we analyzed 19 sequence variations at HFE , TFR 1 , TFR 2 , and FPN 1 and compared genotype frequencies between cases and controls in a German population . ^^^ No rare variants at 15 more loci at HFE , TFR 2 , and FPN 1 were observed in breast cancer patients . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
The HFE , H ferritin , TFR 2 , and ferroportin 1 genes of a Japanese patient diagnosed as having hemochromatosis were amplified by PCR and sequenced . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
CONCLUSIONS : Our results suggest that TfR 2 is required for iron regulated expression of hepcidin and is involved in a pathway related to Hfe and hemojuvelin . . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
The aim of the present study was to evaluate whether the hepatic expression of HAMP in relation to iron stores requires HFE or might involve other important iron related genes including HJV ( encoding hemojuvelin ) and TFR 2 ( encoding transferrin receptor 2 ) . ^^^ METHODS : Using quantitative RT PCR , the iron dependent hepatic expression patterns of HAMP , HJV , and TFR 2 were evaluated in human and murine HFE related hemochromatosis . ^^^ Moreover , we demonstrate an HFE independent correlation between the expression of HAMP and TFR 2 in mouse and human livers . ^^^ An HFE independent pathway that seems to involve TFR 2 and HJV can regulate HAMP expression under conditions of iron overload . . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
In turn , recent findings from studies of knockout mice and functional studies have confirmed that HAMP plays a central role in mobilization of iron , shown that HFE , TFR 2 and HJV modulate HAMP production according to the body ' s iron status , and demonstrated that HAMP negatively regulates cellular iron efflux by affecting the ferroportin cell surface availability . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
The genes coding for HFE , transferrin receptor 2 ( TFR 2 ) , ferroportin ( SLC40A1 or FPN 1 ) , hepcidin ( HEPC ) and hemojuvelin ( HJV or RGMC ) are responsible for different types of genetic iron overload . ^^^ Hfe , Rgmc and Tfr 2 expression was not influenced by phlebotomy . ^^^ In parenteral iron overload , Tfr 2 gene and protein expression decreased concomitant to the increase in Hepc , while Hfe RNA remained constant . ^^^ Furthermore , taken the differences in gene expression in dietary overload ( increased Hfe but not Tfr 2 ) , distinct roles are suggested for Hfe and Tfr 2 in Hepc activation . . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
The analysis of a range of human iron loading disorders has provided very strong evidence that the products of the HFE , TfR 2 , hepcidin and hemojuvelin genes comprise integral components of the machinery that regulates iron absorption and iron traffic around the body . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
The activity of ferroportin 1 is controlled by the liver derived peptide hepcidin , and the expression of hepcidin in turn is influenced by plasma transferrin saturation via a pathway that involves HFE , TfR 2 , and hemojuvelin . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
Rare defects , including mutations in the transferrin receptor 2 ( TFR 2 ) gene , have also been identified in pedigrees affected with `` non HFE hemochromatosis . ' ' Homozygous mutations in the newly identified genes encoding hemojuvelin ( HFE 2 ) and hepcidin ( HAMP ) cause juvenile hemochromatosis . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
Four types of inherited iron overload have been recognized : type 1 , the most common form with an autosomal recessive inheritance , is associated with mutations in the HFE gene on chromosome 6 ; type 2 ( juvenile hemochromatosis ) is an autosomal recessive disorder with causative mutations identified in the HJV gene ( subtype A ) on chromosome 1 and the HAMP gene ( subtype B ) on chromosome 19 ; type 3 has also an autosomal recessive inheritance with mutations in the TfR 2 gene on chromosome 3 ; type 4 is an autosomal dominant condition with heterozygous mutations in the ferroportin 1 gene on chromosome 2 . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
Sequencing of TFR 2 , HFE , FPN 1 ( SLC40A1 ) , HAMP , HJV , and the erythrocyte pyruvate kinase genes of family members was also performed . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
The haemochromatosis genes HFE , TfR 2 and HJV potentially facilitate the transcription of HAMP . ^^^ Disruption of each of the four genes leads to a diminished hepatic release of hepcidin consistent with both a dominant role of hepcidin in hereditary haemochromatosis and an upstream regulatory role of HFE , TfR 2 and HJV on HAMP expression . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
Two analogues , [ Hfe 3 ] EM 2 and [ Phg 4 ] ( EM 2 / morphiceptin ) , showed different but potent antinociceptive activity in mouse hot plate test , the results combined with their half lives of degradation by mouse brain homogenate could also present some evidence to the in vivo degradative mechanism of EM 2 . . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
Bone morphogenetic proteins 2 , 4 , and 9 stimulate murine hepcidin 1 expression independently of Hfe , transferrin receptor 2 ( Tfr 2 ) , and IL 6 . ^^^ We investigate the role of Hfe , Tfr 2 ( transferrin receptor 2 ) , and IL 6 in BMP 2 , BMP 4 , and BMP 9 stimulated up regulation of murine hepcidin , because these molecules , like Hjv , are known to be involved in hepcidin signaling . ^^^ We show that the BMP signaling pathway acts independently of Hfe , Tfr 2 , and IL 6 : The response to BMP 2 , BMP 4 , and BMP 9 is similar in isolated hepatocytes of wild type , Hfe ( / ) , IL 6 ( / ) , and Tfr 2 ( m ) mutant mice . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
In the present study , the expression of HFE and the HFE interacting proteins TfR 1 , TfR 2 , and beta2M were analyzed in mouse retina . ^^^ Expression of the HFE interacting proteins TfR 1 , TfR 2 , and beta2M was also evident in the retina . ^^^ The specific localization of HFE and its interacting proteins , TfR 1 and TfR 2 , at the basolateral membrane of RPE is relevant to the regulation of iron homeostasis in this cell . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
Recently a second transferrin receptor ( TFR 2 ) was discovered , and a previously uncharacterized type of hemochromatosis ( HH type 3 ) was identified in humans carrying mutations in the TFR 2 gene . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
Ferroportin and TFR 2 mutations also cause HH , and two HAMP mutations have recently been reported that causes juvenile haemochromatosis ( JH ) in the homozygous state . ^^^
Interacting proteins: Q30201 and Q9UP52 Pubmed SVM Score :0.0
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