Rh Blood Group, D Antigen (RHD)

CD240D; Rh30a; Rh4; RhPI; RhII; DIIIc; Rhesus D antigen; Rh polypeptide 2

SPN	K324
HGNC	10009
MGI	1202882
PubMed	17198846
RGD	620451
UniProt	Q02161
Wiki	RHD

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 the RhD protein, and a second gene that encodes both the RhC and RhE antigens on a single polypeptide. The two genes, and a third unrelated gene, are found in a cluster on chromosome 1. 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. Multiple transcript variants encoding different isoforms have been found for this gene.

Reference

"Molecular cloning and primary structure of the human blood group RhD polypeptide."
Proc. Natl. Acad. Sci. U.S.A. 89:10925-10929(1992) [PubMed] [Europe PMC] [Abstract]

"Multiple Rh messenger RNA isoforms are produced by alternative splicing."
Blood 80:1074-1078(1992) [PubMed] [Europe PMC] [Abstract]

"Molecular cloning of RhD cDNA derived from a gene present in RhD-positive, but not RhD-negative individuals."
Blood 82:651-655(1993) [PubMed] [Europe PMC] [Abstract]

"Isolation of a new cDNA clone encoding an Rh polypeptide associated with the Rh blood group system."
Hum. Genet. 91:157-162(1993) [PubMed] [Europe PMC] [Abstract]

"Identification of a new RhD-specific mRNA from K562 cells."
Blood 83:3098-3100(1994) [PubMed] [Europe PMC] [Abstract]

"Identification of a partial internal deletion in the RH locus causing the human erythrocyte D-phenotype."
Blood 86:784-790(1995) [PubMed] [Europe PMC] [Abstract]

"Rh(D) antigen expression and isolation of a new Rh(D) cDNA isoform in human erythroleukemic K562 cells."
Blood 84:1975-1981(1994) [PubMed] [Europe PMC] [Abstract]

"Multiple isoforms excluding normal RhD mRNA detected in Rh blood group Del phenotype with RHD 1227A allele."
Transfus. Apher. Sci. 34:145-152(2006) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and biological annotation of human chromosome 1."
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]

"Protein-sequence studies on Rh-related polypeptides suggest the presence of at least two groups of proteins which associate in the human red-cell membrane."
Biochem. J. 256:1043-1046(1988) [PubMed] [Europe PMC] [Abstract]

"Polymorphism in the Mr 32,000 Rh protein purified from Rh(D)-positive and -negative erythrocytes."
Proc. Natl. Acad. Sci. U.S.A. 85:4042-4045(1988) [PubMed] [Europe PMC] [Abstract]

"Determination of the N-terminal sequence of human red cell Rh(D) polypeptide and demonstration that the Rh(D), (c), and (E) antigens are carried by distinct polypeptide chains."
Blood 72:661-666(1988) [PubMed] [Europe PMC] [Abstract]

"Regarding the size of Rh proteins."
Blood 77:411-411(1991) [PubMed] [Europe PMC] [Abstract]

"Leu110Pro substitution in the RhD polypeptide is responsible for the DVII category blood group phenotype."
Am. J. Hematol. 49:87-88(1995) [PubMed] [Europe PMC] [Abstract]

"The consensus coding sequences of human breast and colorectal cancers."
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]