RHCE (gene)

RHCE
Identifiers
AliasesRHCE, CD240CE, RH, RH30A, RHC, RHE, RHIXB, RHPI, Rh4, RhIVb(J), RhVI, RhVIII, Rh blood group CcEe antigens, RHCe(152N), RHNA
External IDsOMIM: 111700; MGI: 1202882; HomoloGene: 7918; GeneCards: RHCE; OMA:RHCE - orthologs
Orthologs
SpeciesHumanMouse
Entrez

6006

19746

Ensembl

ENSG00000188672

ENSMUSG00000028825

UniProt

P18577

Q8CF94

RefSeq (mRNA)

NM_020485
NM_138616
NM_138617
NM_138618
NM_001330430

NM_011270

RefSeq (protein)

NP_001317359
NP_065231
NP_619522
NP_619523
NP_619524

NP_035400

Location (UCSC)Chr 1: 25.36 – 25.43 MbChr 4: 134.59 – 134.62 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Blood group Rh(CE) polypeptide is a protein that in humans is encoded by the RHCE gene.[5][6] 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.[6]

A recent study in the population of the island of Sardinia shows the association of a noncoding variant in the RHCE gene (rs630337) with an increased erythrocyte sedimentation rate(ESR). This suggest a possible causal effect of this polymorphism on this inflammatory marker despite not found in coding region of the gene.[7]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000188672 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028825 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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. S2CID 205342712.
  6. ^ a b "Entrez Gene: RHCE Rh blood group, CcEe antigens".
  7. ^ Sidore C, et al. (2015). "Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers". Nature Genetics. 47 (11): 1272–1281. doi:10.1038/ng.3368. PMC 4627508. PMID 26366554.