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
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
	cancellous bone; ; liver; ; bone marrow; ; blood; ; minor salivary gland; ; Right lobe of liver;
	More reference expression data
	n/a
Gene ontology
Molecular function	GO:0051739 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.

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^[8]
Citrobacter infection	Normal^[9]
All tests and analysis from^[10]^[11]

Model organisms have been used in the study of RHD function. A conditional knockout mouse line, called Rhd^{tm1a(EUCOMM)Wtsi}^[12]^[13] 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.^[14]^[15]^[16]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.^[10]^[17] 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.^[10]

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. doi:10.1073/pnas.1003587107. PMC 2906887. PMID 20457942.
^ "Salmonella infection data for Rhd". Wellcome Trust Sanger Institute.
^ "Citrobacter infection data for Rhd". Wellcome Trust Sanger Institute.
^ ^a ^b ^c Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
^ "International Knockout Mouse Consortium".
^ "Mouse Genome Informatics".
^ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
^ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
^ Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.
^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.

v t Proteins: clusters of differentiation (see also list of human clusters of differentiation)
1–50	CD1 a-c 1A 1B 1D 1E CD2 CD3 γ δ ε CD4 CD5 CD6 CD7 CD8 a CD9 CD10 CD11 a b c d CD13 CD14 CD15 CD16 A B CD18 CD19 CD20 CD21 CD22 CD23 CD24 CD25 CD26 CD27 CD28 CD29 CD30 CD31 CD32 A B CD33 CD34 CD35 CD36 CD37 CD38 CD39 CD40 CD41 CD42 a b c d CD43 CD44 CD45 CD46 CD47 CD48 CD49 a b c d e f CD50
51–100	CD51 CD52 CD53 CD54 CD55 CD56 CD57 CD58 CD59 CD61 CD62 E L P CD63 CD64 A B C CD66 a b c d e f CD68 CD69 CD70 CD71 CD72 CD73 CD74 CD78 CD79 a b CD80 CD81 CD82 CD83 CD84 CD85 a d e h j k CD86 CD87 CD88 CD89 CD90 CD91 - CD92 CD93 CD94 CD95 CD96 CD97 CD98 CD99 CD100
101–150	CD101 CD102 CD103 CD104 CD105 CD106 CD107 a b CD108 CD109 CD110 CD111 CD112 CD113 CD114 CD115 CD116 CD117 CD118 CD119 CD120 a b CD121 a b CD122 CD123 CD124 CD125 CD126 CD127 CD129 CD130 CD131 CD132 CD133 CD134 CD135 CD136 CD137 CD138 CD140b CD141 CD142 CD143 CD144 CD146 CD147 CD148 CD150
151–200	CD151 CD152 CD153 CD154 CD155 CD156 a b c CD157 CD158 (a d e i k) CD159 a c CD160 CD161 CD162 CD163 CD164 CD166 CD167 a b CD168 CD169 CD170 CD171 CD172 a b g CD174 CD177 CD178 CD179 a b CD180 CD181 CD182 CD183 CD184 CD185 CD186 CD191 CD192 CD193 CD194 CD195 CD196 CD197 CDw198 CDw199 CD200
201–250	CD201 CD202b CD204 CD205 CD206 CD207 CD208 CD209 CDw210 a b CD212 CD213a 1 2 CD217 CD218 (a b) CD220 CD221 CD222 CD223 CD224 CD225 CD226 CD227 CD228 CD229 CD230 CD233 CD234 CD235 a b CD236 CD238 CD239 CD240CE CD240D CD241 CD243 CD244 CD246 CD247 - CD248 CD249
251–300	CD252 CD253 CD254 CD256 CD257 CD258 CD261 CD262 CD263 CD264 CD265 CD266 CD267 CD268 CD269 CD271 CD272 CD273 CD274 CD275 CD276 CD278 CD279 CD280 CD281 CD282 CD283 CD284 CD286 CD288 CD289 CD290 CD292 CDw293 CD294 CD295 CD297 CD298 CD299
301–350	CD300A CD301 CD302 CD303 CD304 CD305 CD306 CD307 CD309 CD312 CD314 CD315 CD316 CD317 CD318 CD320 CD321 CD322 CD324 CD325 CD326 CD328 CD329 CD331 CD332 CD333 CD334 CD335 CD336 CD337 CD338 CD339 CD340 CD344 CD349 CD350

RHD (gene)

Contents

Model organisms[]

References[]

Further reading[]

See also[]