Gene: TFR2

Alternate names for this Gene: HFE3|TFRC2

Gene Summary: This gene encodes a single-pass type II membrane protein, which is a member of the transferrin receptor-like family. This protein mediates cellular uptake of transferrin-bound iron, and may be involved in iron metabolism, hepatocyte function and erythrocyte differentiation. Mutations in this gene have been associated with hereditary hemochromatosis type III. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.

Gene is located in Chromosome: 7

Location in Chromosome : 7q22.1

Description of this Gene: transferrin receptor 2

Type of Gene: protein-coding

rs4729597 in TFR2 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs10247962 in TFR2 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs4434553 in TFR2 gene and Finding of Mean Corpuscular Hemoglobin PMID 22560525 2012 Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs80338876 in TFR2 gene and HEMOCHROMATOSIS, TYPE 3 PMID 14633868 2003 Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload.

PMID 12130528 2002 Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation.

PMID 11313241 2001 New mutations inactivating transferrin receptor 2 in hemochromatosis type 3.

rs7385804 in TFR2 gene and Hematocrit procedure PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs531909210 in TFR2 gene and Hemoglobin measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs750609759 in TFR2 gene and Hereditary hemochromatosis PMID 23600741 2013 Variable age of onset and clinical severity in transferrin receptor 2 related haemochromatosis: novel observations.

PMID 26029709 2015 Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3.

PMID 26408288 2015 Transferrin receptor 2 mutations in patients with juvenile hemochromatosis phenotype.

rs7385804 in TFR2 gene and Iron level result PMID 21208937 2011 Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.

rs7385804 in TFR2 gene and Iron measurement PMID 21208937 2011 Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.

rs4434553 in TFR2 gene and Mean Corpuscular Volume (result) PMID 22560525 2012 Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 28017375 2017 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.

rs139178017 in TFR2 gene and RDW - Red blood cell distribution width result PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

rs62482241 in TFR2 gene and Red Blood Cell Count measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 19820697 2009 A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs139178017 in TFR2 gene and Red cell distribution width determination PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

rs4434553 in TFR2 gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs7385804 in TFR2 gene and Serum iron measurement PMID 25352340 2014 Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.

PMID 21208937 2011 Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.

rs7385804 in TFR2 gene and Transferrin saturation measurement PMID 25352340 2014 Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.

rs7385804 in TFR2 gene and White Blood Cell Count procedure PMID 19820697 2009 A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.