RHCE

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. [provided by RefSeq, Aug 2016]

Description

Rh blood group CcEe antigens

Tissue specificity

Tissue enriched (bone marrow)

Subcell location

Nucleoplasm, Plasma membrane

Predicted location

Intracellular, Membrane

Protein family

Blood group antigen proteins
CD markers
Disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Transporters

Chromosome

1 (25362249 - 25430192)

Ensembl ID

ENSG00000188672  (ver. 103.38)

Orthologs

-

UniProt

P18577

neXtProt

NX_P18577

Human splice variants

Protein structure