RHD - Rh blood group D antigen Gene
Also Known as RH; Rh4; RH30; RhII; RhPI; DIIIc; RHCED; RHDel; RHPII; RhDCw; CD240D; HDFNRH; RHXIII; RHDVA(TT); RhK562-II
Species: Homo sapiens
About RHD
This gene has 11 transcripts (splice variants), 199 orthologues, 4 paralogues and is associated with 2 phenotypes. Biased expression in bone marrow (RPKM 5.0), skin (RPKM 0.4) and 2 other tissues.
Summary
The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene, which encodes the RhD protein, and a second gene that encodes both the RhC and RhE antigens on a single polypeptide. The two genes, and a third unrelated gene, are found in a cluster on chromosome 1. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
RHD Products (8)
| mRNA | Protein | Name |
|---|---|---|
| NM_001127691.3 | NP_001121163.1 | blood group Rh(D) polypeptide isoform 2 |
| NM_001282867.1 | NP_001269796.1 | blood group Rh(D) polypeptide isoform 3 |
| NM_001282868.1 | NP_001269797.1 | blood group Rh(D) polypeptide isoform 4 |
| NM_001282869.2 | NP_001269798.1 | blood group Rh(D) polypeptide isoform 5 |
| NM_001282870.1 | NP_001269799.1 | blood group Rh(D) polypeptide isoform 6 |
| NM_001282871.2 | NP_001269800.1 | blood group Rh(D) polypeptide isoform 7 |
| NM_001282872.1 | NP_001269801.1 | blood group Rh(D) polypeptide isoform 8 |
| NM_016124.6 | NP_057208.3 | blood group Rh(D) polypeptide isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
32296183 | GOA |
RHD Protein Structure
Ammonium_transp: Ammonium Transporter Family (20 - 392)
- 0
- 100
- 200
- 300
- 417 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
blood group Rh(D) polypeptide |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
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| Blood Group, Rh System |
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| Hereditary Spherocytosis |
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| Hereditary Elliptocytosis |
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| Rh Isoimmunization |
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| Blood Group Incompatibility |
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| Beta-Thalassemia |
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| Toxoplasmosis |
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| Fetal Erythroblastosis |
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| Skeletal Muscle Cancer |
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| Muscle Cancer |
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| Neonatal Anemia |
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| Skeletal Muscle Neoplasm |
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| Neonatal Jaundice |
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| Typhoid Fever |
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| Congenital Dyserythropoietic Anemia |
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| Hemolytic Anemia |
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| Kernicterus |
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| Parameningeal Embryonal Rhabdomyosarcoma |
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| Thrombocytopenic Purpura, Autoimmune |
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| Deficiency Anemia |
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| Rhabdomyosarcoma 2 |
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| Embryonal Rhabdomyosarcoma |
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| Progressive Relapsing Multiple Sclerosis |
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| Malaria |
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| Anemia, Autoimmune Hemolytic |
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| Patau Syndrome |
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| Thrombocytopenia |
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| Bilirubin Metabolic Disorder |
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| Sickle Cell Anemia |
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| Ewing Sarcoma |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | RHD | MGD | MGI:1202882 |
| Rattus norvegicus | RHD | RGD | RGD:620451 |