RHBG: Rhesus Blood Group-Associated B Glycoprotein
Ammonium Transporter and Blood Group Antigen
Gene Information Card
| Symbol | RHBG |
|---|---|
| Full Name | Rhesus blood group-associated B glycoprotein |
| Gene Type | Protein coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 57127 ncbi.nlm.nih.gov/gene/57127 |
| Ensembl ID | ENSG00000132677 |
| UniProt ID | Q9H310 |
| OMIM ID | 607079 |
| HGNC ID | 10008 |
| Aliases | SLC42A2, RhBG, RHGK |
Description
RHBG encodes the Rhesus blood group-associated B glycoprotein, a member of the Rh family of ammonium transporters. The protein is a transmembrane glycoprotein that mediates electroneutral ammonium (NH4+) transport across plasma membranes. It is highly expressed in kidney and liver, playing a critical role in renal ammonia handling and acid-base homeostasis. RHBG also carries the Rh blood group antigen and is involved in erythroid lineage development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chronic kidney disease | Impaired ammonium excretion due to reduced RHBG expression or function leads to metabolic acidosis | PMID: 21857927 |
| Renal tubular acidosis | Defective RHBG-mediated ammonium transport in collecting duct contributes to acid-base imbalance | PMID: 20019162 |
| Hemolytic disease of the newborn | Anti-Rh antibodies targeting RhBG can cause hemolysis in Rh-incompatible pregnancies | PMID: 12433676 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | High |
| Liver | 8.3 | Medium |
| Testis | 4.1 | Low |
| Placenta | 3.2 | Low |
| Pancreas | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression in transfected cells |
| HepG2 | 9.7 | Endogenous expression in liver cell line |
| HK-2 | 11.4 | Kidney proximal tubule cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.680C>T (p.Thr227Ile) | Missense | 0.001% | Reduced ammonium transport activity in vitro |
| c.1123G>A (p.Gly375Arg) | Missense | 0.0005% | Altered protein trafficking and membrane localization |
| c.1456delC | Frameshift | <0.0001% | Loss of function, truncated protein |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations impair ammonium transport activity or protein stability.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • Ammonium transmembrane transporter activity (GO:0008519) | • Plasma membrane (GO:0005886) |
| • Integral component of membrane (GO:0016021) | • Ammonium transport (GO:0015696) |
| • Response to acid chemical (GO:0001101) |
Pathways
• Ammonium transport (Reactome: R-HSA-210455)
• Transport of inorganic cations/anions and amino acids/oligopeptides (Reactome: R-HSA-425393)
Protein Summary
The RHBG protein is a 458-amino acid transmembrane glycoprotein with 12 predicted transmembrane domains. It functions as an electroneutral ammonium (NH4+) transporter, facilitating ammonia movement across cell membranes. The protein is N-glycosylated and localized to the basolateral membrane in kidney collecting duct cells and to the plasma membrane in hepatocytes. It forms heterooligomers with other Rh family members and is essential for renal ammonia excretion and systemic acid-base balance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RHBG Knockout HEK293 Cell Line | EDJ-KQ3906 | Human | 57127 | Details Get a Quote |
| RHBG Knockout HCT 116 Cell Line | EDC07826 | Human | 57127 | Details Get a Quote |
| RHBG Knockout HeLa Cell Line | EDJ-KQ56810 | Human | 57127 | Details Get a Quote |
| RHBG Knockout A-549 Cell Line | EDJ-KQ65318 | Human | 57127 | Details Get a Quote |
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