RHCG (Rh Family C Glycoprotein)
Ammonia Transporter and Erythroid Antigen
Gene Information Card
| Symbol | RHCG |
|---|---|
| Full Name | Rh family C glycoprotein |
| Gene Type | protein-coding |
| Chromosomal Location | 15q26.1 |
| NCBI Gene ID | 51458 ncbi.nlm.nih.gov/gene/51458 |
| Ensembl ID | ENSG00000140519 |
| UniProt ID | Q9UBD6 |
| OMIM ID | 605381 |
| HGNC ID | 10008 |
| Aliases | RhCG, RHGK, SLC42A3 |
Description
RHCG encodes a member of the Rh family of glycoproteins, which functions as an ammonia transporter. It is expressed in erythroid cells and various epithelial tissues, particularly in the kidney and liver, where it facilitates ammonium transport and pH homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chronic Kidney Disease | Altered RHCG expression may impair renal ammonium excretion, contributing to metabolic acidosis. | PMID: 21890687 |
| Hemolytic Anemia | Rare variants in RHCG have been associated with Rh deficiency syndrome, leading to altered erythrocyte membrane integrity. | OMIM: 605381 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | High |
| Liver | 8.2 | Medium |
| Testis | 6.1 | Medium |
| Lung | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression in transfected cells |
| HepG2 | 7.8 | Moderate expression |
| K562 | 4.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.680C>T (p.Pro227Leu) | Missense | <0.01% | Reduced ammonia transport activity |
| c.1A>G (p.Met1Val) | Start loss | <0.001% | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense variants that reduce or abolish ammonia transport.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • ammonium transmembrane transporter activity | • plasma membrane |
| • integral component of membrane |
Pathways
• Ammonia transport
• Renal ammonium excretion
Protein Summary
RHCG is a 458-amino acid glycoprotein with 12 transmembrane domains, functioning as a channel for ammonium (NH4+) transport. It is critical for renal acid-base balance and erythrocyte membrane structure.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RHCG Knockout HEK293 Cell Line | EDJ-KQ2824 | Human | 51458 | Details Get a Quote |
| RHCG Knockout A-549 Cell Line | EDJ-KQ23801 | Human | 51458 | Details Get a Quote |
| RHCG Knockout HeLa Cell Line | EDJ-KQ56314 | Human | 51458 | Details Get a Quote |
| RHCG Knockout HCT 116 Cell Line | EDJ-KQ73246 | Human | 51458 | Details Get a Quote |
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