Gene: RHCE

Alternate names for this Gene: CD240CE|RH|RH30A|RHC|RHCe(152N)|RHE|RHIXB|RHNA|RHPI|Rh4|RhIVb(J)|RhVI|RhVIII

Gene Summary: The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene which encodes both the RhC and RhE antigens on a single polypeptide and a second gene which encodes the RhD protein. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. A mutation in this gene results in amorph-type Rh-null disease. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.11

Description of this Gene: Rh blood group CcEe antigens

Type of Gene: protein-coding

rs3079633 in RHCE gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs621189 in RHCE gene and Corpuscular Hemoglobin Concentration Mean PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs28695210 in RHCE gene and Low density lipoprotein cholesterol measurement PMID 30718733 2019 The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 25961943 2015 The impact of low-frequency and rare variants on lipid levels.

rs111941366 in RHCE gene and Platelet Component Distribution Width Measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs111941366 in RHCE gene and Platelet Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs586178 in RHCE gene and RDW - Red blood cell distribution width result 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.

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

rs586178 in RHCE gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

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

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

rs28513325 in RHCE gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs586178 in RHCE gene and Serum total cholesterol measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 25961943 2015 The impact of low-frequency and rare variants on lipid levels.