Gene: TMPRSS6

Alternate names for this Gene: IRIDA|MT2

Gene Summary: The protein encoded by this gene is a type II transmembrane serine proteinase that is found attached to the cell surface. The encoded protein may be involved in matrix remodeling processes in the liver. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 22

Location in Chromosome : 22q12.3

Description of this Gene: transmembrane serine protease 6

Type of Gene: protein-coding

rs855791 in TMPRSS6 gene and Bilirubin measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs855791 in TMPRSS6 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs13055107 in TMPRSS6 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

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

PMID 23935956 2013 Genome wide association analysis of a founder population identified TAF3 as a gene for MCHC in humans.

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

PMID 20927387 2010 A genome-wide association study of red blood cell traits using the electronic medical record.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 23263863 2013 GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.

PMID 28453575 2017 Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos.

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

PMID 20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.

rs855791 in TMPRSS6 gene and Ferritin 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?

rs1421312 in TMPRSS6 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 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

PMID 23935956 2013 Genome wide association analysis of a founder population identified TAF3 as a gene for MCHC in humans.

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

PMID 19853236 2009 Sequence variants in three loci influence monocyte counts and erythrocyte volume.

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

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.

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

PMID 28453575 2017 Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos.

PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

PMID 23263863 2013 GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.

PMID 20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.

PMID 20927387 2010 A genome-wide association study of red blood cell traits using the electronic medical record.

rs2413450 in TMPRSS6 gene and Hematocrit procedure 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.

PMID 28453575 2017 Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos.

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

rs228907 in TMPRSS6 gene and Hemoglobin measurement PMID 19820698 2009 Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels.

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

PMID 22560525 2012 Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits.

PMID 20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.

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

PMID 28453575 2017 Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos.

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

PMID 27897004 2017 IDENTIFYING GENETIC ASSOCIATIONS WITH VARIABILITY IN METABOLIC HEALTH AND BLOOD COUNT LABORATORY VALUES: DIVING INTO THE QUANTITATIVE TRAITS BY LEVERAGING LONGITUDINAL DATA FROM AN EHR.

PMID 23263863 2013 GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.

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

rs228907 in TMPRSS6 gene and Hemoglobin, CTCAE PMID 19820698 2009 Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels.

PMID 22560525 2012 Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits.

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

rs4820268 in TMPRSS6 gene and Iron level result PMID 19880490 2010 A genome-wide association analysis of serum iron concentrations.

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

rs4820268 in TMPRSS6 gene and Iron measurement PMID 19880490 2010 A genome-wide association analysis of serum iron concentrations.

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

rs137853119 in TMPRSS6 gene and Iron-Refractory Iron Deficiency Anemia PMID 21618415 2012 A novel mutation Gly603Arg of TMPRSS6 in a Korean female with iron-refractory iron deficiency anemia.

PMID 20704562 2010 A novel TMPRSS6 mutation that prevents protease auto-activation causes IRIDA.

PMID 25588876 2015 Functional analysis of matriptase-2 mutations and domains: insights into the molecular basis of iron-refractory iron deficiency anemia.

PMID 20232450 2010 Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA).

PMID 22581667 2012 Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity.

PMID 25156943 2014 Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies.

PMID 18408718 2008 Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA).

PMID 19357398 2009 Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia.

PMID 19592582 2009 Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms.

PMID 19747362 2009 A novel splice site mutation c.2278 (-1) G>C in the TMPRSS6 gene causes deletion of the substrate binding site of the serine protease resulting in refractory iron deficiency anaemia.

PMID 18603562 2008 A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron.

PMID 19708871 2009 Haematologic data, iron parameters and molecular findings in two new cases of iron-refractory iron deficiency anaemia.

PMID 22581667 2012 We report one frameshift (p.Ala605ProfsX8) and four novel missense mutations (p.Glu114Lys, p.Leu235Pro, p.Tyr418Cys, p.Pro765Ala) found in IRIDA patients.

PMID 22581667 2012 We report one frameshift (p.Ala605ProfsX8) and four novel missense mutations (p.Glu114Lys, p.Leu235Pro, p.Tyr418Cys, p.Pro765Ala) found in IRIDA patients.

PMID 22581667 2012 We report one frameshift (p.Ala605ProfsX8) and four novel missense mutations (p.Glu114Lys, p.Leu235Pro, p.Tyr418Cys, p.Pro765Ala) found in IRIDA patients.

PMID 22581667 2012 We report one frameshift (p.Ala605ProfsX8) and four novel missense mutations (p.Glu114Lys, p.Leu235Pro, p.Tyr418Cys, p.Pro765Ala) found in IRIDA patients.

PMID 21618415 2012 We herein report a Korean female with IRIDA who was compound heterozygous for two mutations in TMPRSS6: a novel missense mutation c.1807G>C (p.Gly603Arg) in the serine protease domain and a known splicing mutation c.863+1G>T (IVS6+1G>T).

PMID 25156943 2014 Sequencing analysis of the TMPRSS6 gene in 21 new IRIDA patients from 16 families with different ethnic origin reveal 17 novel mutations, including the most frequent mutation in Southern Italy (p.W590R).

PMID 25588876 2015 The R271Q variant, although it has been associated with iron-refractory iron deficiency anemia, appears to remain functional.

rs855791 in TMPRSS6 gene and Low density lipoprotein cholesterol measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

rs1421312 in TMPRSS6 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 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.

PMID 19853236 2009 Sequence variants in three loci influence monocyte counts and erythrocyte volume.

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.

PMID 20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.

PMID 28453575 2017 Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos.

PMID 23263863 2013 GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.

PMID 31194788 2019 The two strongest associations were SNP rs1354034 with MPV (p = 2.4x10-13) and rs855791 with MCV (p = 5.2x10-12).

PMID 20927387 2010 A genome-wide association study of red blood cell traits using the electronic medical record.

rs2160906 in TMPRSS6 gene and Mean corpuscular hemoglobin concentration determination PMID 22560525 2012 Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits.

PMID 23263863 2013 GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.

rs2251655 in TMPRSS6 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.

rs1421312 in TMPRSS6 gene and Red Blood Cell Count measurement PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

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

rs2251655 in TMPRSS6 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.

rs2076085 in TMPRSS6 gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs855791 in TMPRSS6 gene and Serum ferritin measurement 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 25352340 2014 Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.

rs228916 in TMPRSS6 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.

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?

rs855791 in TMPRSS6 gene and Serum transferrin measurement PMID 25352340 2014 Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.

rs855791 in TMPRSS6 gene and Soluble Transferrin Receptor Measurement PMID 21149283 2011 Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels.

rs855791 in TMPRSS6 gene and Transferrin measurement PMID 25352340 2014 Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.

rs855791 in TMPRSS6 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?

rs5756506 in TMPRSS6 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.