RHCE (gene)

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Rh blood group, CcEe antigens
Identifiers
Symbols RHCE ; CD240CE; RH; RH30A; RHC; RHE; RHIXB; RHPI; Rh4; RhIVb(J); RhVI; RhVIII
External IDs OMIM111700 MGI1202882 HomoloGene7918 GeneCards: RHCE Gene
RNA expression pattern
PBB GE RHCE 215819 s at tn.png
PBB GE RHCE 216317 x at tn.png
PBB GE RHCE 210429 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 6006 19746
Ensembl ENSG00000188672 ENSMUSG00000028825
UniProt P18577 Q8CF94
RefSeq (mRNA) NM_020485 NM_011270
RefSeq (protein) NP_065231 NP_035400
Location (UCSC) Chr 1:
25.69 – 25.76 Mb
Chr 4:
134.86 – 134.9 Mb
PubMed search [1] [2]

Blood group Rh(CE) polypeptide is a protein that in humans is encoded by the RHCE gene.[1][2] RHCE has also recently been designated CD240CE (cluster of differentiation 240CE).

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. Alternative splicing of this gene results in four transcript variants encoding four different isoforms.[2]

References[edit]

  1. ^ Mouro I, Colin Y, Cherif-Zahar B, Cartron JP, Le Van Kim C (Dec 1993). "Molecular genetic basis of the human Rhesus blood group system". Nat Genet 5 (1): 62–5. doi:10.1038/ng0993-62. PMID 8220426. 
  2. ^ a b "Entrez Gene: RHCE Rh blood group, CcEe antigens". 

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.