RHCE (gene)

Last updated

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
Orthologs
SpeciesHumanMouse
Entrez

6006

19746

Ensembl

ENSG00000188672

ENSMUSG00000028825

UniProt

P18577

Q8CF94

RefSeq (mRNA)

NM_020485
NM_138616
NM_138617
NM_138618
NM_001330430

Contents

NM_011270

RefSeq (protein)

NP_001317359
NP_065231
NP_619522
NP_619523
NP_619524

NP_035400

Location (UCSC) Chr 1: 25.36 – 25.43 Mb Chr 4: 134.59 – 134.62 Mb
PubMed search [3] [4]
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]

Related Research Articles

Glycophorin C plays a functionally important role in maintaining erythrocyte shape and regulating membrane material properties, possibly through its interaction with protein 4.1. Moreover, it has previously been shown that membranes deficient in protein 4.1 exhibit decreased content of glycophorin C. It is also an integral membrane protein of the erythrocyte and acts as the receptor for the Plasmodium falciparum protein PfEBP-2.

<span class="mw-page-title-main">Rh blood group system</span> Human blood group system involving 49 blood antigens

The Rh blood group system is a human blood group system. It contains proteins on the surface of red blood cells. After the ABO blood group system, it is the most likely to be involved in transfusion reactions. The Rh blood group system consisted of 49 defined blood group antigens in 2005. As of 2023, there are over 50 antigens among which the five antigens D, C, c, E, and e are the most important. There is no d antigen. Rh(D) status of an individual is normally described with a positive (+) or negative (−) suffix after the ABO type. The terms Rh factor, Rh positive, and Rh negative refer to the Rh(D) antigen only. Antibodies to Rh antigens can be involved in hemolytic transfusion reactions and antibodies to the Rh(D) and Rh antigens confer significant risk of hemolytic disease of the newborn.

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Spectrin alpha chain, erythrocyte is a protein that in humans is encoded by the SPTA1 gene.

<span class="mw-page-title-main">Dyskerin</span> Protein

H/ACA ribonucleoprotein complex subunit 4 is a protein that in humans is encoded by the gene DKC1.

<span class="mw-page-title-main">RHAG</span> Protein-coding gene in the species Homo sapiens

Rh-associated glycoprotein (RHAG) is an ammonia transporter protein that in humans is encoded by the RHAG gene. RHAG has also recently been designated CD241. Mutations in the RHAG gene can cause stomatocytosis.

<span class="mw-page-title-main">CD177</span> Protein-coding gene in humans

CD177 antigen is a protein that in humans is encoded by the CD177 gene.

<span class="mw-page-title-main">GYPB</span> Protein-coding gene in the species Homo sapiens

Glycophorin B (MNS blood group) (gene designation GYPB) also known as sialoglycoprotein delta and SS-active sialoglycoprotein is a protein which in humans is encoded by the GYPB gene. GYPB has also recently been designated CD235b (cluster of differentiation 235b).

<span class="mw-page-title-main">FUT2</span> Protein and coding gene in humans

Galactoside 2-alpha-L-fucosyltransferase 2 is an enzyme that in humans is encoded by the FUT2 gene. It affects the secretor status of ABO antigens.

<span class="mw-page-title-main">Basal cell adhesion molecule</span> Protein-coding gene in the species Homo sapiens

Basal cell adhesion molecule, also known as Lutheran antigen, is a plasma membrane glycoprotein that in humans is encoded by the BCAM gene. BCAM has also recently been designated CD239.

<span class="mw-page-title-main">GCNT2</span> Protein-coding gene in the species Homo sapiens

N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase is an enzyme that in humans is encoded by the GCNT2 gene.

<span class="mw-page-title-main">Urea transporter 1</span> Protein-coding gene in the species Homo sapiens

Urea transporter 1 is a protein that in humans is encoded by the SLC14A1 gene.

<span class="mw-page-title-main">DDX3Y</span> Protein-coding gene in the species Homo sapiens

ATP-dependent RNA helicase DDX3Y is an enzyme that in humans is encoded by the DDX3Y gene.

<span class="mw-page-title-main">RHCG</span> Protein-coding gene in the species Homo sapiens

Rh family, C glycoprotein, also known as RHCG, is a protein that in humans is encoded by the RHCG gene.

<span class="mw-page-title-main">ERMAP</span> Protein-coding gene in the species Homo sapiens

Erythroid membrane-associated protein is a protein that in humans is responsible for the Scianna blood group system, and is encoded by the ERMAP gene.

<span class="mw-page-title-main">TMEM50A</span> Protein-coding gene in the species Homo sapiens

Transmembrane protein 50A is a protein that in humans is encoded by the TMEM50A gene.

<span class="mw-page-title-main">Zinc finger protein ZFPM1</span> Protein found in humans

Zinc finger protein ZFPM1 also known as friend of GATA protein 1(FOG-1) is a protein that in humans is encoded by the ZFPM1 gene. It is a cofactor of the GATA1 transcription factor.

<span class="mw-page-title-main">ZRF1</span> Protein-coding gene in the species Homo sapiens

DnaJ homolog subfamily C member 2 is a protein that in humans is encoded by the DNAJC2 gene.

<span class="mw-page-title-main">ZNF22</span> Protein-coding gene in the species Homo sapiens

Zinc finger protein 22 is a protein that in humans is encoded by the ZNF22 gene.

<span class="mw-page-title-main">TSTA3</span> Protein-coding gene in the species Homo sapiens

GDP-L-fucose synthetase is an enzyme that in humans is encoded by the TSTA3 gene.

<span class="mw-page-title-main">RHD (gene)</span> Protein-coding gene in the species Homo sapiens

Rh blood group, D antigen also known as Rh polypeptide 1 (RhPI) or cluster of differentiation 240D (CD240D) is a protein that in humans is encoded by the RHD gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000188672 – Ensembl, May 2017
  2. 1 2 3 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. 1 2 "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.

Further reading

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


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