Gene: TFRC

Alternate names for this Gene: CD71|IMD46|T9|TFR|TFR1|TR|TRFR|p90

Gene Summary: This gene encodes a cell surface receptor necessary for cellular iron uptake by the process of receptor-mediated endocytosis. This receptor is required for erythropoiesis and neurologic development. Multiple alternatively spliced variants have been identified.

Gene is located in Chromosome: 3

Location in Chromosome : 3q29

Description of this Gene: transferrin receptor

Type of Gene: protein-coding

rs11715524 in TFRC gene and Adult onset asthma PMID 30929738 2019 Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.

rs11715524 in TFRC gene and Asthma PMID 30929738 2019 Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.

rs11185506 in TFRC 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.

rs11915082 in TFRC gene and Finding of Mean Corpuscular Hemoglobin PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

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

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.

rs863225436 in TFRC gene and IMMUNODEFICIENCY 46 PMID 26642240 2016 A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency.

rs4927850 in TFRC gene and Malignant neoplasm of pancreas PMID 22158540 2011 Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations.

rs4927858 in TFRC gene and Mean Corpuscular Volume (result) 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.

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

PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

rs4927850 in TFRC gene and Pancreatic carcinoma PMID 22158540 2011 Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations.

rs113635136 in TFRC gene and RDW - Red blood cell distribution width result PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

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.

rs11185506 in TFRC gene and Red Blood Cell Count measurement PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

rs113635136 in TFRC gene and Red cell distribution width determination PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

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.

rs11715524 in TFRC gene and Respiratory Tract Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs113635136 in TFRC gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.