RHCE Gene - Rh Blood Group CcEe Antigens
Key regulator of Rh blood group system, involved in hemolytic disease and transfusion compatibility
Gene Information Card
| Symbol | RHCE |
|---|---|
| Full Name | Rh blood group CcEe antigens |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.11 |
| NCBI Gene ID | 6006 ncbi.nlm.nih.gov/gene/6006 |
| Ensembl ID | ENSG00000188690 |
| UniProt ID | P18577 |
| OMIM ID | 111700 |
| HGNC ID | 10000 |
| Aliases | Rh, Rh30, RhIVb20, RHIXB, RHPI, CD240CE |
Description
The RHCE gene encodes the Rh blood group CcEe antigens, which are integral membrane proteins of red blood cells. These antigens are part of the Rh blood group system, critical for blood transfusion compatibility and implicated in hemolytic disease of the newborn (HDN). The gene produces two major isoforms (Ce and Ee) through alternative splicing, determining the C/c and E/e antigen specificities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hemolytic disease of the newborn (HDN) | Maternal-fetal Rh incompatibility leads to alloimmunization and hemolysis | ClinVar, OMIM |
| Rh-null syndrome | Complete absence of Rh antigens due to RHCE mutations, causing stomatocytosis and hemolytic anemia | OMIM, NCBI |
| Autoimmune hemolytic anemia | Autoantibodies against Rh antigens cause red cell destruction | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Whole blood | 0.0 | Not detected |
| Bone marrow | 0.0 | Not detected |
| Spleen | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
| Kidney | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Erythrocytes | 0.0 | RHCE protein is expressed on red blood cell membranes but RNA is not detected in standard RNA-seq due to enucleation |
| K562 | 0.0 | Erythroleukemia cell line; low or absent RHCE expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.48G>C (p.Trp16Cys) | Missense | Common | Alters C/c antigen specificity |
| c.676G>C (p.Gly226Arg) | Missense | Common | Alters E/e antigen specificity |
| c.307C>T (p.Arg103Trp) | Missense | Rare | Associated with Rh-null phenotype |
| c.941C>T (p.Pro314Leu) | Missense | Rare | Associated with Rh-null phenotype |
Mutation functional classification
Loss of Function (LOF)
Nonsense or frameshift mutations leading to truncated protein and Rh-null syndrome
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • integral component of membrane (GO:0016021) | • plasma membrane (GO:0005886) |
| • oxidoreductase activity (GO:0016491) | • transport (GO:0006810) |
| • protein binding (GO:0005515) |
Pathways
• Blood group biosynthesis (Rh system)
• Erythrocyte differentiation
Protein Summary
The RHCE protein (UniProt P18577) is a 417-amino acid multi-pass transmembrane protein localized to the red blood cell membrane. It functions as an ammonium transporter and is essential for maintaining erythrocyte membrane integrity. The protein carries the C, c, E, and e blood group antigens, determined by specific amino acid substitutions. It forms a complex with Rh-associated glycoprotein (RHAG) to mediate ammonium transport and stabilize the membrane skeleton.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RHCE Knockout HEK293 Cell Line | EDJ-KQ5658 | Human | 6006 | Details Get a Quote |
| RHCE Knockout HeLa Cell Line | EDJ-KQ54322 | Human | 6006 | Details Get a Quote |
| RHCE Knockout A-549 Cell Line | EDJ-KQ62817 | Human | 6006 | Details Get a Quote |
| RHCE Knockout HCT 116 Cell Line | EDJ-KQ71281 | Human | 6006 | Details Get a Quote |
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