RHCE (gene): Difference between revisions

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{{DISPLAYTITLE:''RHCE'' (gene)}}
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'''Blood group Rh(CE) polypeptide''' is a [[protein]] that in humans is encoded by the ''RHCE'' [[gene]].<ref name="pmid8220426">{{cite journal | vauthors = Mouro I, Colin Y, Cherif-Zahar B, Cartron JP, Le Van Kim C | title = Molecular genetic basis of the human Rhesus blood group system | journal = Nat Genet | volume = 5 | issue = 1 | pages = 62–5 |date=Dec 1993 | pmid = 8220426 | pmc =  | doi = 10.1038/ng0993-62 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: RHCE Rh blood group, CcEe antigens| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6006| accessdate = }}</ref> RHCE has also recently been designated '''CD240CE''' ([[cluster of differentiation]] 240CE).
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{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = Rh blood group, CcEe antigens
| HGNCid = 10008
| Symbol = RHCE
| AltSymbols =; RHC; CD240CE; MGC103977; RH; RH30A; RHE; RHIXB; RHPI; Rh4; RhIVb(J); RhVI; RhVIII; CD240D; DIIIc; RH30; RHCED; RHDVA(TT); RHDel; RHPII; RHXIII; RhDCw; RhII; RhK562-II; RhPI
| OMIM = 111700
| ECnumber = 
| Homologene = 7918
| MGIid = 1202882
| GeneAtlas_image1 = PBB_GE_RHCE_215819_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_RHCE_216317_x_at_tn.png
| GeneAtlas_image3 = PBB_GE_RHCE_210429_at_tn.png
| Function = {{GNF_GO|id=GO:0005215 |text = transporter activity}} {{GNF_GO|id=GO:0003674 |text = molecular_function}}  
| Component = {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}  
| Process = {{GNF_GO|id=GO:0006810 |text = transport}} {{GNF_GO|id=GO:0008150 |text = biological_process}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 6006
    | Hs_Ensembl = ENSG00000188672
    | Hs_RefseqProtein = XP_001130486
    | Hs_RefseqmRNA = XM_001130486
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 1
    | Hs_GenLoc_start = 25561328
    | Hs_GenLoc_end = 25629270
    | Hs_Uniprot = P18577
    | Mm_EntrezGene = 19746
    | Mm_Ensembl = ENSMUSG00000028825
    | Mm_RefseqmRNA = NM_011270
    | Mm_RefseqProtein = NP_035400
    | Mm_GenLoc_db =   
    | Mm_GenLoc_chr = 4
    | Mm_GenLoc_start = 134136660
    | Mm_GenLoc_end = 134168248
    | Mm_Uniprot = 
  }}
}}
'''Rh blood group, CcEe antigens''', also known as '''RHCE''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: RHCE Rh blood group, CcEe antigens| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6006| accessdate = }}</ref> RHCE has also recently been designated '''CD240CE''' ([[cluster of differentiation]] 240CE).


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| section_title =  
| section_title =  
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: RHCE Rh blood group, CcEe antigens| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6006| accessdate = }}</ref>
| summary_text = 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.<ref name="entrez" />
}}
}}
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 (biology)|polymorphism]] on this inflammatory marker despite not found in coding region of the gene.<ref>{{cite journal|author=Sidore C |display-authors=etal |title=Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers |year=2015 |journal=Nature Genetics |volume=47 |pages=1272–1281 |doi=10.1038/ng.3368 |pmid=26366554 |pmc=4627508}}</ref>


==References==
==References==
{{reflist|2}}
{{reflist}}


==Further reading==
==Further reading==
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| citations =  
| citations =  
*{{cite journal  | author=Agre P, Cartron JP |title=Molecular biology of the Rh antigens. |journal=Blood |volume=78 |issue= 3 |pages= 551-63 |year= 1991 |pmid= 1907207 |doi=  }}
*{{cite journal  | vauthors=Agre P, Cartron JP |title=Molecular biology of the Rh antigens. |journal=Blood |volume=78 |issue= 3 |pages= 551–63 |year= 1991 |pmid= 1907207 |doi=  }}
*{{cite journal  | author=Avent ND, Reid ME |title=The Rh blood group system: a review. |journal=Blood |volume=95 |issue= 2 |pages= 375-87 |year= 2000 |pmid= 10627438 |doi=  }}
*{{cite journal  | vauthors=Avent ND, Reid ME |title=The Rh blood group system: a review. |journal=Blood |volume=95 |issue= 2 |pages= 375–87 |year= 2000 |pmid= 10627438 |doi=  }}
*{{cite journal  | author=Flegel WA, Wagner FF |title=Molecular genetics of RH. |journal=Vox Sang. |volume=78 Suppl 2 |issue=  |pages= 109-15 |year= 2000 |pmid= 10938938 |doi=  }}
*{{cite journal  | vauthors=Flegel WA, Wagner FF |title=Molecular genetics of RH. | series=78 |journal=Vox Sang. |volume=Suppl 2 |issue=  |pages= 109–15 |year= 2000 |pmid= 10938938 |doi=  }}
*{{cite journal  | author=Wagner FF, Flegel WA |title=Review: the molecular basis of the Rh blood group phenotypes. |journal=Immunohematology / American Red Cross |volume=20 |issue= 1 |pages= 23-36 |year= 2004 |pmid= 15373666 |doi=  }}
*{{cite journal  | vauthors=Wagner FF, Flegel WA |title=Review: the molecular basis of the Rh blood group phenotypes. |journal=Immunohematology / American Red Cross |volume=20 |issue= 1 |pages= 23–36 |year= 2004 |pmid= 15373666 |doi=  }}
*{{cite journal | author=Callebaut I, Dulin F, Bertrand O, ''et al.'' |title=Hydrophobic cluster analysis and modeling of the human Rh protein three-dimensional structures. |journal=Transfusion clinique et biologique : journal de la Société française de transfusion sanguine |volume=13 |issue= 1-2 |pages= 70-84 |year= 2006 |pmid= 16584906 |doi= 10.1016/j.tracli.2006.02.001 }}
*{{cite journal   |vauthors=Callebaut I, Dulin F, Bertrand O, etal |title=Hydrophobic cluster analysis and modeling of the human Rh protein three-dimensional structures. |journal=Transfusion clinique et biologique : journal de la Société française de transfusion sanguine |volume=13 |issue= 1-2 |pages= 70–84 |year= 2006 |pmid= 16584906 |doi= 10.1016/j.tracli.2006.02.001 }}
*{{cite journal | author=Le Van Kim C, Chérif-Zahar B, Raynal V, ''et al.'' |title=Multiple Rh messenger RNA isoforms are produced by alternative splicing. |journal=Blood |volume=80 |issue= 4 |pages= 1074-8 |year= 1992 |pmid= 1379850 |doi=  }}
*{{cite journal   |vauthors=Le Van Kim C, Chérif-Zahar B, Raynal V, etal |title=Multiple Rh messenger RNA isoforms are produced by alternative splicing. |journal=Blood |volume=80 |issue= 4 |pages= 1074–8 |year= 1992 |pmid= 1379850 |doi=  }}
*{{cite journal | author=Le van Kim C, Mouro I, Chérif-Zahar B, ''et al.'' |title=Molecular cloning and primary structure of the human blood group RhD polypeptide. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=89 |issue= 22 |pages= 10925-9 |year= 1992 |pmid= 1438298 |doi=  }}
*{{cite journal   |vauthors=Le van Kim C, Mouro I, Chérif-Zahar B, etal |title=Molecular cloning and primary structure of the human blood group RhD polypeptide. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=89 |issue= 22 |pages= 10925–9 |year= 1992 |pmid= 1438298 |doi=10.1073/pnas.89.22.10925  | pmc=50455 }}
*{{cite journal | author=Chérif-Zahar B, Bloy C, Le Van Kim C, ''et al.'' |title=Molecular cloning and protein structure of a human blood group Rh polypeptide. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=87 |issue= 16 |pages= 6243-7 |year= 1990 |pmid= 1696722 |doi=  }}
*{{cite journal   |vauthors=Chérif-Zahar B, Bloy C, Le Van Kim C, etal |title=Molecular cloning and protein structure of a human blood group Rh polypeptide. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=87 |issue= 16 |pages= 6243–7 |year= 1990 |pmid= 1696722 |doi=10.1073/pnas.87.16.6243  | pmc=54509 }}
*{{cite journal  | author=Suyama K, Goldstein J, Aebersold R, Kent S |title=Regarding the size of Rh proteins. |journal=Blood |volume=77 |issue= 2 |pages= 411 |year= 1991 |pmid= 1898705 |doi=  }}
*{{cite journal  | vauthors=Suyama K, Goldstein J, Aebersold R, Kent S |title=Regarding the size of Rh proteins. |journal=Blood |volume=77 |issue= 2 |pages= 411 |year= 1991 |pmid= 1898705 |doi=  }}
*{{cite journal | author=Chérif-Zahar B, Mattéi MG, Le Van Kim C, ''et al.'' |title=Localization of the human Rh blood group gene structure to chromosome region 1p34.3-1p36.1 by in situ hybridization. |journal=Hum. Genet. |volume=86 |issue= 4 |pages= 398-400 |year= 1991 |pmid= 1900257 |doi=  }}
*{{cite journal   |vauthors=Chérif-Zahar B, Mattéi MG, Le Van Kim C, etal |title=Localization of the human Rh blood group gene structure to chromosome region 1p34.3-1p36.1 by in situ hybridization. |journal=Hum. Genet. |volume=86 |issue= 4 |pages= 398–400 |year= 1991 |pmid= 1900257 |doi=10.1007/BF00201843 }}
*{{cite journal | author=Sawamura D, Li KH, Nomura K, ''et al.'' |title=Bullous pemphigoid antigen: cDNA cloning, cellular expression, and evidence for polymorphism of the human gene. |journal=J. Invest. Dermatol. |volume=96 |issue= 6 |pages= 908-15 |year= 1991 |pmid= 2045679 |doi=  }}
*{{cite journal   |vauthors=Sawamura D, Li KH, Nomura K, etal |title=Bullous pemphigoid antigen: cDNA cloning, cellular expression, and evidence for polymorphism of the human gene. |journal=J. Invest. Dermatol. |volume=96 |issue= 6 |pages= 908–15 |year= 1991 |pmid= 2045679 |doi=10.1111/1523-1747.ep12475433 }}
*{{cite journal  | author=Avent ND, Ridgwell K, Tanner MJ, Anstee DJ |title=cDNA cloning of a 30 kDa erythrocyte membrane protein associated with Rh (Rhesus)-blood-group-antigen expression. |journal=Biochem. J. |volume=271 |issue= 3 |pages= 821-5 |year= 1990 |pmid= 2123099 |doi=  }}
*{{cite journal  | vauthors=Avent ND, Ridgwell K, Tanner MJ, Anstee DJ |title=cDNA cloning of a 30 kDa erythrocyte membrane protein associated with Rh (Rhesus)-blood-group-antigen expression. |journal=Biochem. J. |volume=271 |issue= 3 |pages= 821–5 |year= 1990 |pmid= 2123099 |doi= | pmc=1149638 }}
*{{cite journal | author=Bloy C, Blanchard D, Dahr W, ''et al.'' |title=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. |journal=Blood |volume=72 |issue= 2 |pages= 661-6 |year= 1988 |pmid= 3135863 |doi=  }}
*{{cite journal   |vauthors=Bloy C, Blanchard D, Dahr W, etal |title=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. |journal=Blood |volume=72 |issue= 2 |pages= 661–6 |year= 1988 |pmid= 3135863 |doi=  }}
*{{cite journal | author=Avent ND, Ridgwell K, Mawby WJ, ''et al.'' |title=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. |journal=Biochem. J. |volume=256 |issue= 3 |pages= 1043-6 |year= 1989 |pmid= 3146980 |doi=  }}
*{{cite journal   |vauthors=Avent ND, Ridgwell K, Mawby WJ, etal |title=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. |journal=Biochem. J. |volume=256 |issue= 3 |pages= 1043–6 |year= 1989 |pmid= 3146980 |doi= 10.1042/bj2561043| pmc=1135522 }}
*{{cite journal  | author=Kajii E, Umenishi F, Iwamoto S, Ikemoto S |title=Isolation of a new cDNA clone encoding an Rh polypeptide associated with the Rh blood group system. |journal=Hum. Genet. |volume=91 |issue= 2 |pages= 157-62 |year= 1993 |pmid= 7916743 |doi=  }}
*{{cite journal  | vauthors=Kajii E, Umenishi F, Iwamoto S, Ikemoto S |title=Isolation of a new cDNA clone encoding an Rh polypeptide associated with the Rh blood group system. |journal=Hum. Genet. |volume=91 |issue= 2 |pages= 157–62 |year= 1993 |pmid= 7916743 |doi=10.1007/BF00222717 }}
*{{cite journal | author=Chérif-Zahar B, Le Van Kim C, Rouillac C, ''et al.'' |title=Organization of the gene (RHCE) encoding the human blood group RhCcEe antigens and characterization of the promoter region. |journal=Genomics |volume=19 |issue= 1 |pages= 68-74 |year= 1994 |pmid= 8188244 |doi= 10.1006/geno.1994.1014 }}
*{{cite journal   |vauthors=Chérif-Zahar B, Le Van Kim C, Rouillac C, etal |title=Organization of the gene (RHCE) encoding the human blood group RhCcEe antigens and characterization of the promoter region. |journal=Genomics |volume=19 |issue= 1 |pages= 68–74 |year= 1994 |pmid= 8188244 |doi= 10.1006/geno.1994.1014 }}
*{{cite journal  | author=Mouro I, Colin Y, Chérif-Zahar B, ''et al.'' |title=Molecular genetic basis of the human Rhesus blood group system. |journal=Nat. Genet. |volume=5 |issue= 1 |pages= 62-5 |year= 1993 |pmid= 8220426 |doi= 10.1038/ng0993-62 }}
*{{cite journal  | vauthors=Huang CH, Chen Y, Reid M, Ghosh S |title=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. |journal=Am. J. Hum. Genet. |volume=59 |issue= 4 |pages= 825–33 |year= 1996 |pmid= 8808597 |doi= | pmc=1914783 }}
*{{cite journal  | author=Huang CH, Chen Y, Reid M, Ghosh S |title=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. |journal=Am. J. Hum. Genet. |volume=59 |issue= 4 |pages= 825-33 |year= 1996 |pmid= 8808597 |doi=  }}
*{{cite journal  | author=Huang CH |title=Alteration of RH gene structure and expression in human dCCee and DCW-red blood cells: phenotypic homozygosity versus genotypic heterozygosity. |journal=Blood |volume=88 |issue= 6 |pages= 2326–33 |year= 1996 |pmid= 8822955 |doi=  }}
*{{cite journal  | author=Huang CH |title=Alteration of RH gene structure and expression in human dCCee and DCW-red blood cells: phenotypic homozygosity versus genotypic heterozygosity. |journal=Blood |volume=88 |issue= 6 |pages= 2326-33 |year= 1996 |pmid= 8822955 |doi=  }}
}}
}}
{{refend}}
{{refend}}
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* {{MeshName|RHCE+protein,+human}}
* {{MeshName|RHCE+protein,+human}}


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{{Clusters of differentiation}}
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[[Category:Clusters of differentiation]]
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Latest revision as of 09:11, 10 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

n/a

n/a

Ensembl

n/a

n/a

UniProt

n/a

n/a

RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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]

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.[3]

References

  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. ↑ 2.0 2.1 "Entrez Gene: RHCE Rh blood group, CcEe antigens".
  3. ↑ Sidore C; et al. (2015). "Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers". Nature Genetics. 47: 1272–1281. doi:10.1038/ng.3368. PMC 4627508. PMID 26366554.

Further reading

External links

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


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