RHD Gene (Rh Blood Group D Antigen)
Key regulator of Rh blood group system; critical for transfusion medicine and hemolytic disease of the newborn
Gene Information Card
| Symbol | RHD |
|---|---|
| Full Name | Rh blood group D antigen |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.11 |
| NCBI Gene ID | 6007 ncbi.nlm.nih.gov/gene/6007 |
| Ensembl ID | ENSG00000187010 |
| UniProt ID | Q02161 |
| OMIM ID | 111680 |
| HGNC ID | 10009 |
| Aliases | RhII, RhD, D antigen, CD240D |
Description
The RHD gene encodes the RhD protein, a major antigen of the Rh blood group system. It is expressed on erythrocyte membranes and is critical for blood transfusion compatibility. The presence or absence of the RhD antigen determines Rh-positive or Rh-negative blood type. Genetic variations in RHD can lead to RhD-negative phenotype, weak D, partial D, or Rh null syndrome, with implications in hemolytic disease of the newborn (HDN) and transfusion reactions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hemolytic disease of the newborn (HDN) | Maternal anti-RhD antibodies cross placenta and destroy fetal RhD-positive red cells | ClinVar, OMIM |
| Rh-null syndrome | Complete absence of Rh antigens due to RHD/RHCE mutations leads to stomatocytosis and hemolytic anemia | OMIM, NCBI |
| Weak D phenotype | Reduced expression of RhD antigen due to missense or splice variants; risk of alloimmunization | ClinVar, HGNC |
| Partial D phenotype | Altered RhD epitopes due to gene rearrangements; can cause anti-D alloimmunization | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Whole blood | 12.5 | High |
| Bone marrow | 8.3 | Medium |
| Spleen | 2.1 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Erythrocytes | 12.5 | High expression |
| K562 (erythroleukemia) | 6.8 | Moderate expression |
| HEK293 | 0.2 | Very low/not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| RHD*01N.01 (RHD deletion) | Deletion | ~15-20% in Caucasians | Complete loss of RhD antigen (RhD-negative) |
| RHD*weak D type 1 (c.809T>G, p.Val270Gly) | Missense | ~0.2-1% | Reduced RhD expression; weak D phenotype |
| RHD*DVI (hybrid RHD-CE-D) | Gene rearrangement | Rare | Partial D phenotype; risk of alloimmunization |
| RHD*null (c.121G>A, p.Gly41Arg) | Missense | Very rare | Rh null phenotype; hemolytic anemia |
Mutation functional classification
Loss of Function (LOF)
Deletion or nonsense mutations in RHD abolish RhD antigen expression, leading to RhD-negative or Rh null phenotype.
Gain of Function (GOF)
Not described; no known gain-of-function mutations in RHD.
Dominant Negative (DN)
Not reported; RHD mutations are typically recessive or codominant.
View complete mutation data：
Gene Ontology (GO)
| • integral component of membrane (GO:0016021) | • plasma membrane (GO:0005886) |
| • protein binding (GO:0005515) | • oxidoreductase activity (GO:0016491) |
| • transport (GO:0006810) | • chloride transmembrane transport (GO:1902476) |
Pathways
• ['Rh blood group biosynthesis'
• 'Reactome R-HSA-9033808']
• ['Erythrocyte differentiation'
• 'KEGG hsa04611']
Protein Summary
The RhD protein (UniProt Q02161) is a 417-amino acid transmembrane protein with 12 membrane-spanning domains. It is expressed exclusively on erythrocytes and functions as an ammonium transporter and possibly a CO2 channel. The RhD antigen is highly immunogenic; RhD-negative individuals can produce anti-D antibodies upon exposure, causing transfusion reactions or HDN. The protein shares high homology with RhCE and RhAG, forming the Rh complex essential for membrane integrity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RHD Knockout HEK293 Cell Line | EDJ-KQ5672 | Human | 6007 | Details Get a Quote |
| TRHDE Knockout HEK293 Cell Line | EDJ-KQ9099 | Human | 29953 | Details Get a Quote |
| PTRHD1 Knockout HEK293 Cell Line | EDJ-KQ14210 | Human | 391356 | Details Get a Quote |
| TRHDE Knockout HCT 116 Cell Line | EDJ-KQ35598 | Human | 29953 | Details Get a Quote |
| PTRHD1 Knockout A-549 Cell Line | EDJ-KQ45424 | Human | 391356 | Details Get a Quote |
| PTRHD1 Knockout HCT 116 Cell Line | EDJ-KQ45426 | Human | 391356 | Details Get a Quote |
| PTRHD1 Knockout HeLa Cell Line | EDJ-KQ45427 | Human | 391356 | Details Get a Quote |
| RHD Knockout HeLa Cell Line | EDJ-KQ54323 | Human | 6007 | Details Get a Quote |
| TRHDE Knockout HeLa Cell Line | EDJ-KQ56131 | Human | 29953 | Details Get a Quote |
| RHD Knockout A-549 Cell Line | EDJ-KQ62818 | Human | 6007 | Details Get a Quote |
| TRHDE Knockout A-549 Cell Line | EDJ-KQ64617 | Human | 29953 | Details Get a Quote |
| RHD Knockout HCT 116 Cell Line | EDJ-KQ71282 | Human | 6007 | Details Get a Quote |
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