RHD (gene)

RHD
Identifiers
Aliases	RHD, CD240D, DIIIc, RH, RH30, RHCED, RHDVA(TT), RHDel, RHPII, RHXIII, Rh4, RhDCw, RhII, RhK562-II, RhPI, Rh blood group D antigen, HDFNRH
External IDs	OMIM: 111680; MGI: 1202882; HomoloGene: 7918; GeneCards: RHD; OMA:RHD - orthologs
Gene location (Human) Chr. Chromosome 1 (human) Band 1p36.11 Start 25,272,393 bp End 25,330,445 bp
Gene location (Mouse) Chr. Chromosome 4 (mouse) Band 4 D3|4 67.13 cM Start 134,591,847 bp End 134,623,483 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in buccal mucosa cell trabecular bone testicle monocyte granulocyte bone marrow blood minor salivary glands right uterine tube bone marrow cells 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 BioGPS n/a
Gene ontology Molecular function ammonium transmembrane transporter activity Cellular component integral component of membrane integral component of plasma membrane membrane plasma membrane Biological process organic cation transport ammonium transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6007 19746 Ensembl ENSG00000187010 ENSMUSG00000028825 UniProt Q02161 Q8CF94 RefSeq (mRNA) NM_001127691 NM_001282867 NM_001282868 NM_001282869 NM_001282870 NM_001282871 NM_001282872 NM_016124 NM_016225 NM_011270 RefSeq (protein) NP_001121163 NP_001269796 NP_001269797 NP_001269798 NP_001269799 NP_001269800 NP_001269801 NP_057208 NP_035400 Location (UCSC) Chr 1: 25.27 – 25.33 Mb Chr 4: 134.59 – 134.62 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

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.

The RHD gene codes for the RhD erythrocyte membrane protein that is the Rh factor antigen of the Rh blood group system. RHD has sequence similarity to RHCE, RhAG, RhBG, and RhCG and these five genes constitute the Rh family. It was proposed that the erythrocyte Rh complex is a heterotrimer of RhAG, RhD, and RhCE protein subunits. RhAG is a functional ammonia transporter and is required for normal cell surface expression of RhD and RhCE. Patients who lack RhD/RhCE/RhAG on the surface of their erythrocytes have hemolytic anemia. Antibodies to the RhD protein can cause Rh disease.

Model organisms

Rhd knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Normal
Fertility	Normal
Body weight	Normal
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Haematology	Abnormal
Peripheral blood lymphocytes	Normal
Micronucleus test	Normal
Heart weight	Normal
Skin Histopathology	Normal
Brain histopathology	Normal
Eye Histopathology	Normal
Salmonella infection	Normal
Citrobacter infection	Normal
All tests and analysis from

Model organisms have been used in the study of RHD function. A conditional knockout mouse line, called Rhd^{tm1a(EUCOMM)Wtsi} was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Twenty five tests were carried out on mutant mice and one significant abnormality was observed: homozygous mutant males had a decrease in mean corpuscular hemoglobin.

Further reading

• Polin H, Danzer M, Gaszner W, Broda D, St-Louis M, Pröll J, Hofer K, Gabriel C (Apr 2009). "Identification of RHD alleles with the potential of anti-D immunization among seemingly D- blood donors in Upper Austria". Transfusion. 49 (4): 676–81. doi:10.1111/j.1537-2995.2008.02046.x. PMID 19170995. S2CID 205717360.
• Silvy M, Simon S, Gouvitsos J, Di Cristofaro J, Ferrera V, Chiaroni J, Bailly P (Feb 2011). "Weak D and DEL alleles detected by routine SNaPshot genotyping: identification of four novel RHD alleles". Transfusion. 51 (2): 401–11. doi:10.1111/j.1537-2995.2010.02830.x. PMID 20723165. S2CID 7760367.
• Flegel WA, von Zabern I, Doescher A, Wagner FF, Vytisková J, Písacka M (Jan 2008). "DCS-1, DCS-2, and DFV share amino acid substitutions at the extracellular RhD protein vestibule". Transfusion. 48 (1): 25–33. doi:10.1111/j.1537-2995.2007.01506.x. PMID 17900276. S2CID 30661322.
• Zhuo CS, Zhuo XF, Guo YJ, Wang CQ (Apr 2008). "[RHD gene polymorphism of RhD negative individuals in population of Fujian province]". Zhongguo Shi Yan Xue Ye Xue Za Zhi. 16 (2): 435–8. PMID 18426681.
• 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. PMID 15373666.
• Callebaut I, Dulin F, Bertrand O, Ripoche P, Mouro I, Colin Y, Mornon JP, Cartron JP (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.
• Cartron JP (Dec 1994). "Defining the Rh blood group antigens. Biochemistry and molecular genetics". Blood Reviews. 8 (4): 199–212. doi:10.1016/0268-960x(94)90108-2. PMID 7888828.
• Martínez H, Rodríguez-Larralde A, Izaguirre MH, De Guerra DC (Apr 2007). "Admixture estimates for Caracas, Venezuela, based on autosomal, Y-chromosome, and mtDNA markers". Human Biology. 79 (2): 201–13. doi:10.1353/hub.2007.0032. PMID 18027815. S2CID 21169396.
• Ye L, Yue D, Wo D, Ding X, Guo S, Li Q, Guo Z, Zhu Z (Aug 2009). "Molecular bases of unexpressed RHD alleles in Chinese D- persons". Transfusion. 49 (8): 1655–60. doi:10.1111/j.1537-2995.2009.02181.x. PMID 19392776. S2CID 21246262.
• Pirelli KJ, Pietz BC, Johnson ST, Pinder HL, Bellissimo DB (Dec 2010). "Molecular determination of RHD zygosity: predicting risk of hemolytic disease of the fetus and newborn related to anti-D". Prenatal Diagnosis. 30 (12–13): 1207–12. doi:10.1002/pd.2652. PMID 21072752. S2CID 12935058.
• Flegr J, Novotná M, Fialová A, Kolbeková P, Gasová Z (Jun 2010). "The influence of RhD phenotype on toxoplasmosis- and age-associated changes in personality profile of blood donors". Folia Parasitologica. 57 (2): 143–50. doi:10.14411/fp.2010.018. PMID 20608477.
• Wang XD, Wang BL, Ye SL, Liao YQ, Wang LF, He ZM (Jul 2009). "Non-invasive foetal RHD genotyping via real-time PCR of foetal DNA from Chinese RhD-negative maternal plasma". European Journal of Clinical Investigation. 39 (7): 607–17. doi:10.1111/j.1365-2362.2009.02148.x. PMID 19545247. S2CID 24127883.
• Li Z, Shao CP (Jun 2009). "Sequencing analysis of RHD intron 7 and 9". Transfusion and Apheresis Science. 40 (3): 169–73. doi:10.1016/j.transci.2009.03.004. PMID 19364677.
• Feller JM, Simpson AM, Nelson M, Swan MA, O'Connell PJ, Hawthorne WJ, Tao C, O'Brien BA (Sep 2008). "Growth-promoting effect of Rh(D) antibody on human pancreatic islet cells". The Journal of Clinical Endocrinology and Metabolism. 93 (9): 3560–7. doi:10.1210/jc.2008-0510. hdl:10453/9441. PMID 18544617.
• Schmid P, von Zabern I, Scharberg EA, Wagner FF, Flegel WA (Jan 2010). "Specific amino acid substitutions cause distinct expression of JAL (RH48) and JAHK (RH53) antigens in RhCE and not in RhD". Transfusion. 50 (1): 267–9. doi:10.1111/j.1537-2995.2009.02446.x. PMC 3482507. PMID 20233350.
• Liu HC, Eng HL, Yang YF, Wang YH, Lin KT, Wu HL, Lin TM (Jun 2010). "Aberrant RNA splicing in RHD 7-9 exons of DEL individuals in Taiwan: a mechanism study". Biochimica et Biophysica Acta (BBA) - General Subjects. 1800 (6): 565–73. doi:10.1016/j.bbagen.2010.02.006. PMID 20188798.
• Mineeva NV, Elkhina EV, Bodrova NN, Zavarzina OA, Priezzheva LS, Poedinenko IV (Mar 2009). "[D antigen varieties and determination of Rhesus factor]". Klinicheskaia Laboratornaia Diagnostika (3): 17–9. PMID 19388479.
• Yuan S, Davis R, Lu Q, Goldfinger D, Ziman AF (Dec 2008). "Low risk of alloimmunization to the D antigen in D- orthotopic liver transplant recipients receiving D+ RBCs perioperatively". Transfusion. 48 (12): 2653–5. doi:10.1111/j.1537-2995.2008.01959.x. PMID 19055536. S2CID 10625455.
• Avent ND, Reid ME (Jan 2000). "The Rh blood group system: a review". Blood. 95 (2): 375–87. doi:10.1182/blood.V95.2.375. PMID 10627438. S2CID 13803474.
• Denomme GA, Wang D, Matheson KA, Titolo D (Jul 2009). "The proximal cis-regulatory region of the RHD/RHCE promoter is 105 bp and contains a 55-bp core devoid of known binding motifs but necessary for transcription". Transfusion. 49 (7): 1361–9. doi:10.1111/j.1537-2995.2009.02162.x. PMID 19374729. S2CID 31785967.

See also

• ABO (gene)