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)
End	25,330,445 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	134,623,483 bp
RNA expression pattern
	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
	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
	6007
	19746
	ENSG00000187010
	ENSMUSG00000028825
	Q02161
	Q8CF94
NM_001127691; NM_001282867; NM_001282868; NM_001282869; NM_001282870;
	NM_001282871; NM_001282872; NM_016124; NM_016225
	NM_011270
NP_001121163; NP_001269796; NP_001269797; NP_001269798; NP_001269799;
	NP_001269800; NP_001269801; NP_057208
	NP_035400
	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.^[5]

The RHD gene codes for the RhD erythrocyte membrane protein that is the Rh factor antigen of the Rh blood group system.^[6] 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.^[7] 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.

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000187010 – 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.
^ "Entrez Gene: Rh blood group".
^ Westhoff CM (Jan 2007). "The structure and function of the Rh antigen complex". Seminars in Hematology. 44 (1): 42–50. doi:10.1053/j.seminhematol.2006.09.010. PMC 1831834. PMID 17198846.
^ Gruswitz F, Chaudhary S, Ho JD, Schlessinger A, Pezeshki B, Ho CM, Sali A, Westhoff CM, Stroud RM (May 2010). "Function of human Rh based on structure of RhCG at 2.1 A". Proceedings of the National Academy of Sciences of the United States of America. 107 (21): 9638–43. Bibcode:2010PNAS..107.9638G. doi:10.1073/pnas.1003587107. PMC 2906887. PMID 20457942.

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. PMC 9980290. 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.

RHD (gene)

References

Further reading

See also