RHD (gene)

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]

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)[1] Band 1p36.11 Start 25,272,393 bp[1] End 25,330,445 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4 D3|4 67.13 cM Start 134,591,847 bp[2] End 134,623,483 bp[2]
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 cell 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 [3] [4]
Wikidata
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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.