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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
RHD
Rh blood group D antigen
Chromosome 1 Β· 1p36.11
NCBI Gene: 6007Ensembl: ENSG00000187010.21HGNC: HGNC:10009UniProt: A0A1B1R0Y1
200PubMed Papers
21Diseases
2Drugs
3Pathogenic Variants
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
ammonium channel activityammonium transmembrane transportammonium homeostasisplasma membraneRh deficiency syndromeTinnitusrheumatoid arthritisanemia
✦AI Summary

RHD encodes the Rh blood group D antigen, a membrane protein that functions as an ammonium transporter in erythrocytes. The protein likely forms oligomeric complexes with transport or channel activity in the erythrocyte membrane 1. RHD expression is dependent on the presence of RHAG (Rh-associated glycoprotein), as RhD antigen cannot be expressed alone and requires transgenic human RhAG for proper membrane localization 2. The primary clinical significance of RHD relates to blood group incompatibility and hemolytic disease of the fetus and newborn (HDFN). Anti-RhD alloimmunization occurs when RhD-negative individuals are exposed to RhD-positive blood, leading to antibody production 2. Serological weak D phenotypes, occurring in 0.2-1% of routine blood typings, require RHD genotyping for proper management, with most Caucasian weak D types (1, 2, or 3) safely manageable as RhD-positive 3. RHD genotyping has become essential for identifying partial D phenotypes and guiding anti-D prophylaxis in pregnancy 1. The development of transgenic mouse models expressing human RhAG and RhD proteins represents an important advancement for studying RhD alloimmunization mechanisms and HDFN pathogenesis 2.

Sources cited
1
RHD encodes the Rh blood group D antigen and updates on its structure and clinical applications
PMID: 40629486
2
RhD expression depends on RHAG presence and transgenic mouse model development for studying alloimmunization
PMID: 24260394
3
Serological weak D phenotypes occur in 0.2-1% of blood typings and require genotyping for proper management
PMID: 28508413
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
Rh deficiency syndromeOpen Targets
0.38Weak
TinnitusOpen Targets
0.27Weak
rheumatoid arthritisOpen Targets
0.24Weak
anemiaOpen Targets
0.21Weak
Blood group antigen abnormalityOpen Targets
0.18Weak
hemolytic disease of fetus and newborn, RH-inducedOpen Targets
0.12Weak
neoplasmOpen Targets
0.11Weak
response to vaccineOpen Targets
0.10Weak
colorectal carcinomaOpen Targets
0.09Suggestive
metabolic diseaseOpen Targets
0.09Suggestive
autoimmune thrombocytopenic purpuraOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
alloimmunizationOpen Targets
0.07Suggestive
malariaOpen Targets
0.06Suggestive
esophageal squamous cell carcinomaOpen Targets
0.05Suggestive
osteosarcomaOpen Targets
0.05Suggestive
androgenetic alopeciaOpen Targets
0.05Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.05Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.05Suggestive
hemoglobin D diseaseOpen Targets
0.04Suggestive
Hemolytic disease of fetus and newborn, RH-inducedUniProt
Pathogenic Variants3
Single allelePathogenic
RHD DEL
β˜†β˜†β˜†β˜†2017
Single allelePathogenic
RHD DEL
β˜†β˜†β˜†β˜†2017
NC_000001.11:g.25324070_25331709delPathogenic
RhD negative
β˜†β˜†β˜†β˜†2017
View on ClinVar β†—
Drug Targets2
ROLEDUMABPhase II/III
Blood group Rh(D) polypeptide inhibitor
anemia
ROZROLIMUPABPhase II
Blood group Rh(D) polypeptide inhibitor
anemia
Related Genes
RHCEProtein interaction88%CD47Protein interaction84%DHCR24Protein interaction84%GYPAProtein interaction84%GYPBProtein interaction84%KELProtein interaction84%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
22%
Lung
11%
Liver
11%
Brain
5%
Heart
5%
Gene Interaction Network
Click a node to explore
RHDRHCECD47DHCR24GYPAGYPBKEL
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q02161
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.74LoF Tolerant
pLIβ“˜
0.03Tolerant
Observed/Expected LoF0.48 [0.32–0.74]
RankingsWhere RHD stands among ~20K protein-coding genes
  • #2,113of 20,598
    Most Researched200 Β· top quartile
  • #3,937of 5,498
    Most Pathogenic Variants3
  • #5,840of 17,882
    Most Constrained (LOEUF)0.74
Genes detectedRHD
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Acute Rheumatic Fever.
PMID: 33931507
Pediatr Rev Β· 2021
1.00
2
Serological weak D phenotypes: a review and guidance for interpreting the RhD blood type using the RHD genotype.
PMID: 28508413
Br J Haematol Β· 2017
0.90
3
An FDA oncology analysis of CD3 bispecific constructs and first-in-human dose selection.
PMID: 28887049
Regul Toxicol Pharmacol Β· 2017
0.80
4
[Polymorphism of RHD gene among RhD negative and D variant blood donors from Qingdao region].
PMID: 29188626
Zhonghua Yi Xue Yi Chuan Xue Za Zhi Β· 2017
0.72
5
The impact of RUNX2 gene variants on cleidocranial dysplasia phenotype: a systematic review.
PMID: 39627759
J Transl Med Β· 2024
0.70