RHCE (gene)

RHCE
Identifiers
Aliases	RHCE, CD240CE, RH, RH30A, RHC, RHE, RHIXB, RHPI, Rh4, RhIVb(J), RhVI, RhVIII, Rh blood group CcEe antigens, RHCe(152N), RHNA
External IDs	OMIM: 111700; MGI: 1202882; HomoloGene: 7918; GeneCards: RHCE; OMA:RHCE - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	25,430,192 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	134,623,483 bp
RNA expression pattern
	Top expressed in
	trabecular bone; ; bone marrow; ; testicle; ; gonad; ; bone marrow cells; ; endothelial cell; ; islet of Langerhans; ; blood; ; stromal cell of endometrium; ; gastric mucosa;
	Top expressed in
	fetal liver hematopoietic progenitor cell; ; tibiofemoral joint; ; primary oocyte; ; human fetus; ; spleen; ; secondary oocyte; ; zygote; ; bone marrow; ; blood; ; femur;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	ammonium transmembrane transporter activity;
Cellular component	integral component of membrane; integral component of plasma membrane; membrane;
Biological process	organic cation transport; ammonium transmembrane transport;
	Sources:Amigo / QuickGO
Orthologs
	6006
	19746
	ENSG00000188672
	ENSMUSG00000028825
	P18577
	Q8CF94
	NM_020485; NM_138616; NM_138617; NM_138618; NM_001330430
	NM_011270
	NP_001317359; NP_065231; NP_619522; NP_619523; NP_619524
	NP_035400
	Wikidata
View/Edit Human	View/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]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000188672 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000028825 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ ^a ^b "Entrez Gene: RHCE Rh blood group, CcEe antigens".
^ 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.

Agre P, Cartron JP (1991). "Molecular biology of the Rh antigens". Blood. 78 (3): 551–63. doi:10.1182/blood.V78.3.551.551. PMID 1907207.
Avent ND, Reid ME (2000). "The Rh blood group system: a review". Blood. 95 (2): 375–87. doi:10.1182/blood.V95.2.375. PMID 10627438. S2CID 13803474.
Flegel WA, Wagner FF (2000). "Molecular genetics of RH". Vox Sang. 78. Suppl 2: 109–15. PMID 10938938.
Wagner FF, Flegel WA (2020). "Review: the molecular basis of the Rh blood group phenotypes". Immunohematology / American Red Cross. 20 (1): 23–36. doi:10.21307/immunohematology-2019-419. PMC 9980290. PMID 15373666.
Callebaut I, Dulin F, Bertrand O, et al. (2006). "Hydrophobic cluster analysis and modeling of the human Rh protein three-dimensional structures". Transfusion Clinique et Biologique. 13 (1–2): 70–84. doi:10.1016/j.tracli.2006.02.001. PMID 16584906.
Le Van Kim C, Chérif-Zahar B, Raynal V, et al. (1992). "Multiple Rh messenger RNA isoforms are produced by alternative splicing". Blood. 80 (4): 1074–8. doi:10.1182/blood.V80.4.1074.1074. PMID 1379850.
Le van Kim C, Mouro I, Chérif-Zahar B, et al. (1992). "Molecular cloning and primary structure of the human blood group RhD polypeptide". Proc. Natl. Acad. Sci. U.S.A. 89 (22): 10925–9. Bibcode:1992PNAS...8910925L. doi:10.1073/pnas.89.22.10925. PMC 50455. PMID 1438298.
Chérif-Zahar B, Bloy C, Le Van Kim C, et al. (1990). "Molecular cloning and protein structure of a human blood group Rh polypeptide". Proc. Natl. Acad. Sci. U.S.A. 87 (16): 6243–7. Bibcode:1990PNAS...87.6243C. doi:10.1073/pnas.87.16.6243. PMC 54509. PMID 1696722.
Suyama K, Goldstein J, Aebersold R, Kent S (1991). "Regarding the size of Rh proteins". Blood. 77 (2): 411. doi:10.1182/blood.V77.2.411b.411b. PMID 1898705.
Chérif-Zahar B, Mattéi MG, Le Van Kim C, et al. (1991). "Localization of the human Rh blood group gene structure to chromosome region 1p34.3-1p36.1 by in situ hybridization". Hum. Genet. 86 (4): 398–400. doi:10.1007/BF00201843. PMID 1900257. S2CID 23796292.
Sawamura D, Li KH, Nomura K, et al. (1991). "Bullous pemphigoid antigen: cDNA cloning, cellular expression, and evidence for polymorphism of the human gene". J. Invest. Dermatol. 96 (6): 908–15. doi:10.1111/1523-1747.ep12475433. PMID 2045679.
Avent ND, Ridgwell K, Tanner MJ, Anstee DJ (1990). "cDNA cloning of a 30 kDa erythrocyte membrane protein associated with Rh (Rhesus)-blood-group-antigen expression". Biochem. J. 271 (3): 821–5. doi:10.1042/bj2710821. PMC 1149638. PMID 2123099.
Bloy C, Blanchard D, Dahr W, et al. (1988). "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 (2): 661–6. doi:10.1182/blood.V72.2.661.661. PMID 3135863.
Avent ND, Ridgwell K, Mawby WJ, et al. (1989). "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 (3): 1043–6. doi:10.1042/bj2561043. PMC 1135522. PMID 3146980.
Kajii E, Umenishi F, Iwamoto S, Ikemoto S (1993). "Isolation of a new cDNA clone encoding an Rh polypeptide associated with the Rh blood group system". Hum. Genet. 91 (2): 157–62. doi:10.1007/BF00222717. PMID 7916743. S2CID 22109697.
Chérif-Zahar B, Le Van Kim C, Rouillac C, et al. (1994). "Organization of the gene (RHCE) encoding the human blood group RhCcEe antigens and characterization of the promoter region". Genomics. 19 (1): 68–74. doi:10.1006/geno.1994.1014. PMID 8188244.
Huang CH, Chen Y, Reid M, Ghosh S (1996). "Genetic recombination at the human RH locus: a family study of the red-cell Evans phenotype reveals a transfer of exons 2-6 from the RHD to the RHCE gene". Am. J. Hum. Genet. 59 (4): 825–33. PMC 1914783. PMID 8808597.
Huang CH (1996). "Alteration of RH gene structure and expression in human dCCee and DCW-red blood cells: phenotypic homozygosity versus genotypic heterozygosity". Blood. 88 (6): 2326–33. doi:10.1182/blood.V88.6.2326.bloodjournal8862326. PMID 8822955.

External links

RHCE+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000188672 – Ensembl, May 2017

[refGRCm38Ensembl-2] 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.

[pmid8220426-5] 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.

[entrez-6] "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.

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[6]

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RHCE (gene)

References

Further reading

External links