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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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RHCE
Rh blood group CcEe antigens
Chromosome 1 Β· 1p36.11
NCBI Gene: 6006Ensembl: ENSG00000188672.19HGNC: HGNC:10008UniProt: A0A220QMN8
105PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
ankyrin-1 complexammonium transmembrane transportammonium homeostasisammonium channel activityRh deficiency syndromeresponse to stimulusChronic Obstructive Asthmaresponse to statin
✦AI Summary

RHCE encodes the Rh blood group CcEe antigens, which are integral membrane proteins essential for erythrocyte membrane stability and function. The protein serves as a component of the ankyrin-1 complex, a multiprotein assembly that maintains erythrocyte membrane stability and shape 1. RHCE mediates the primary membrane attachment site for ankyrin-1 when associated with RHAG, and its distinct T-shaped conformation facilitates recognition and clustering of membrane proteins 1. The protein may participate in ammonium and carbon dioxide transport, suggesting a role in gas homeostasis. RHCE is organized into 10 exons spanning 75 kb, with alternative splicing producing different RNA isoforms 2. Expression is restricted to the erythroid/megakaryocytic lineage, controlled by erythroid-specific transcription factors including GATA-1 2. Clinical significance includes involvement in transfusion medicine, where RHCE variants can cause serological weaknesses and typing difficulties 3. The gene exhibits extensive polymorphism, with strong selection pressure maintaining variation between RHCE and RHD antigens 4. Disease associations include Rh-null syndrome, and accurate fetal RHCE genotyping from maternal blood is now possible for managing alloimmunization during pregnancy 5.

Sources cited
1
RHCE is a component of the ankyrin-1 complex involved in erythrocyte membrane stability and serves as membrane attachment site for ankyrin-1
PMID: 35835865
2
RHCE gene organization (10 exons, 75 kb) and erythroid-specific expression controlled by GATA-1
PMID: 8188244
3
RHCE variants cause serological weaknesses and transfusion typing difficulties
PMID: 35741820
4
Strong selection pressure maintains RHCE/RHD antigen variation
PMID: 12857961
5
Fetal RHCE genotyping from maternal blood is clinically feasible for managing alloimmunization
PMID: 18503573
Disease Associationsβ“˜21
Rh deficiency syndromeOpen Targets
0.61Moderate
response to stimulusOpen Targets
0.42Moderate
Chronic Obstructive AsthmaOpen Targets
0.27Weak
response to statinOpen Targets
0.21Weak
neurodegenerative diseaseOpen Targets
0.20Weak
Abnormality of the skeletal systemOpen Targets
0.18Weak
Sensorineural hearing impairmentOpen Targets
0.16Weak
anti-GAD65 autoimmune neurological syndromesOpen Targets
0.16Weak
cholelithiasisOpen Targets
0.16Weak
physical activityOpen Targets
0.16Weak
response to vaccineOpen Targets
0.16Weak
disorder of earOpen Targets
0.15Weak
Aganglionic megacolonOpen Targets
0.15Weak
hearing lossOpen Targets
0.14Weak
alcohol drinkingOpen Targets
0.14Weak
neoplasmOpen Targets
0.10Weak
colorectal carcinomaOpen Targets
0.09Suggestive
Huntington diseaseOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
Parkinson diseaseOpen Targets
0.06Suggestive
Rh-null, amorph typeUniProt
Pathogenic Variants4
NM_020485.8(RHCE):c.966_968delinsC (p.His323fs)Pathogenic
RH-NULL, AMORPH TYPE
β˜†β˜†β˜†β˜†2018β†’ Residue 323
NM_020485.8(RHCE):c.634+1G>TPathogenic
RH-NULL, AMORPH TYPE
β˜†β˜†β˜†β˜†2018
NM_020485.8(RHCE):c.963del (p.Ile322fs)Pathogenic
RH-NULL, AMORPH TYPE
β˜†β˜†β˜†β˜†2018β†’ Residue 322
NM_020485.8(RHCE):c.1044_1050dup (p.Thr351fs)Pathogenic
RH-NULL, AMORPH TYPE
β˜†β˜†β˜†β˜†2018β†’ Residue 351
View on ClinVar β†—
Related Genes
TMEM50AProtein interaction95%CD47Protein interaction93%ANK1Protein interaction88%AQP1Protein interaction88%EPB42Protein interaction88%GYPAProtein interaction88%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
3%
Heart
2%
Liver
2%
Ovary
1%
Lung
1%
Gene Interaction Network
Click a node to explore
RHCETMEM50ACD47ANK1AQP1EPB42GYPA
PROTEIN STRUCTURE
Preparing viewer…
PDB7UZQ Β· 2.17 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.69LoF Tolerant
pLIβ“˜
0.02Tolerant
Observed/Expected LoF0.47 [0.33–0.69]
RankingsWhere RHCE stands among ~20K protein-coding genes
  • #4,557of 20,598
    Most Researched105 Β· top quartile
  • #3,738of 5,498
    Most Pathogenic Variants4
  • #5,176of 17,882
    Most Constrained (LOEUF)0.69
Genes detectedRHCE
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Architecture of the human erythrocyte ankyrin-1 complex.
PMID: 35835865
Nat Struct Mol Biol Β· 2022
1.00
2
Five-Years Review of
PMID: 35741820
Genes (Basel) Β· 2022
0.90
3
Molecular genetics of RH.
PMID: 10938938
Vox Sang Β· 2000
0.80
4
A two-locus gene conversion model with selection and its application to the human RHCE and RHD genes.
PMID: 12857961
Proc Natl Acad Sci U S A Β· 2003
0.70
5
The Rh blood group system: RHD update.
PMID: 40629486
Immunohematology Β· 2025
0.60