Gene: TF

Alternate names for this Gene: HEL-S-71p|PRO1557|PRO2086|TFQTL1

Gene Summary: This gene encodes a glycoprotein with an approximate molecular weight of 76.5 kDa. It is thought to have been created as a result of an ancient gene duplication event that led to generation of homologous C and N-terminal domains each of which binds one ion of ferric iron. The function of this protein is to transport iron from the intestine, reticuloendothelial system, and liver parenchymal cells to all proliferating cells in the body. This protein may also have a physiologic role as granulocyte/pollen-binding protein (GPBP) involved in the removal of certain organic matter and allergens from serum.

Gene is located in Chromosome: 3

Location in Chromosome : 3q22.1

Description of this Gene: transferrin

Type of Gene: protein-coding

rs1049296 in TF gene and Alcohol consumption PMID 21665994 2011 Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.

rs4854760 in TF gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs121918679 in TF gene and Congenital atransferrinemia PMID 11110675 2000 Molecular characterization of a case of atransferrinemia.

PMID 15466165 2004 Molecular characterization of a third case of human atransferrinemia.

PMID 11920219 2000 Biochemical and genetic defects underlying human congenital hypotransferrinemia.

PMID 17768112 2007 Effects of plasma transfusion on hepcidin production in human congenital hypotransferrinemia.

rs72382362 in TF gene and Corpuscular Hemoglobin Concentration Mean PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

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

rs1358023 in TF gene and Finding of Mean Corpuscular Hemoglobin PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

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

rs3811647 in TF gene and HEMOCHROMATOSIS, TYPE 1 PMID 25457201 2015 Because these two outcomes were clearly associated with the biochemical and clinical expression of the disease, an indirect link between the rs3811647 polymorphism and the phenotypic presentation of HFE-HH is likely.

rs3811647 in TF gene and HFE-Associated Hereditary Hemochromatosis PMID 25457201 2015 Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis.

rs3811647 in TF gene and Hereditary hemochromatosis PMID 25457201 2015 Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis.

rs3811647 in TF gene and Iron Metabolism Disorders PMID 25457201 2015 Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis.

rs3811647 in TF gene and Iron binding capacity total measurement PMID 21483845 2011 An association between total iron binding capacity and SNP rs3811647 in the TF gene (GWAS observed P=7.0×10(-9), corrected P=0.012) was replicated within the VA samples (observed P=0.012).

PMID 28334935 2017 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation?

PMID 25224454 2015 Genome-wide admixture and association study of serum iron, ferritin, transferrin saturation and total iron binding capacity in African Americans.

rs3811647 in TF 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.

rs3811647 in TF 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.

rs1049296 in TF gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs150854910 in TF gene and Mean Corpuscular Volume (result) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs8177233 in TF gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.

rs1799852 in TF gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs8177247 in TF gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1799852 in TF gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs3811647 in TF gene and Serum iron measurement PMID 25457201 2015 Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis.

PMID 25352340 2014 Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.

rs3811647 in TF gene and Serum transferrin measurement PMID 25457201 2015 This GWAS, the largest one performed so far in unselected HFE-associated HH (HFE-HH) patients, identified the rs3811647 polymorphism in the TF gene as the only SNP significantly associated with iron metabolism through serum transferrin and iron levels.

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

PMID 25352340 2014 Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.

rs3811647 in TF gene and Total iron binding capacity function PMID 21483845 2011 An association between total iron binding capacity and SNP rs3811647 in the TF gene (GWAS observed P=7.0×10(-9), corrected P=0.012) was replicated within the VA samples (observed P=0.012).

PMID 28334935 2017 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation?

PMID 25224454 2015 Genome-wide admixture and association study of serum iron, ferritin, transferrin saturation and total iron binding capacity in African Americans.

rs3811647 in TF gene and Transferrin measurement PMID 25457201 2015 Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis.

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

PMID 25352340 2014 Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.

rs1799852 in TF gene and Transferrin saturation measurement PMID 25352340 2014 Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.

PMID 28334935 2017 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation?