RHCG
protein-codingRh family C glycoprotein, the group of Solute carrier family 42
Gene summary
Enables ankyrin binding activity; identical protein binding activity; and transmembrane transporter activity. Involved in ammonium transmembrane transport; intracellular monoatomic ion homeostasis; and transepithelial ammonium transport. Located in apical plasma membrane and basolateral plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]
- C15orf6
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~25.2 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to RHCG variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_016321.3. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 70 | 6 | 76 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 2 | 2 | ||||
| Total | 0 | 0 | 72 | 6 | 0 | 78 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_057405.1 | 10 | MANE Select | |
| Ensembl | ENSP00000268122.4 | 10 | MANE Select | |
| RefSeq | NP_001307970.1 | 10 | Standard | |
| Ensembl | ENSP00000452899.1 | 5 | Standard |
Model Organisms & Knockout Phenotypes
Observed phenotypic effects in mouse and zebrafish models
| Gene / Model | Organism | Observed Phenotype |
|---|---|---|
| rhcgl1 | Danio rerio | Structure: ammonium transport Quality: decreased process quality abnormal |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Amine compound SLC transporters
- Rhesus glycoproteins mediate ammonium transport.
- Transport of bile salts and organic acids, metal ions and amine compounds
- SLC-mediated transmembrane transport
- Transport of small molecules
Biological Process
- cellular ion homeostasis
- regulation of pH
- ammonium transport
- amine transport
- epithelial cell differentiation
Molecular Function
- ammonium transmembrane transporter activity
- ankyrin binding
- identical protein binding
Cellular Component
- plasma membrane
- integral component of plasma membrane
- basolateral plasma membrane
- apical plasma membrane
- cytoplasmic vesicle
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000268122
- Coding exons
- 10
- Length
- 41165
- Individuals with no LoFs
- 125699
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 49
- Defined
- 125748
- p
- 0.000195
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.289 | 273 | 287 | 0.952 | 0.0000158 | 3128 |
| Missense (PolyPhen) | 108 | 121.51 | 0.88884 | 1320 | ||
| Synonymous | -0.354 | 126 | 121 | 1.04 | 0.00000785 | 955 |
| Loss of Function | 2.65 | 11 | 25.4 | 0.432 | 0.00000136 | 255 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00031 | 0.00031 | rare |
| Latino/Admixed American | 0.00032 | 0.00032 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00016 | 0.00016 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00022 | 0.00022 | rare |
| South Asian | 0.00016 | 0.00016 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Functions as an electroneutral and bidirectional ammonium transporter. May regulate transepithelial ammonia secretion. {ECO:0000269|PubMed:11062476, ECO:0000269|PubMed:14761968, ECO:0000269|PubMed:15929723, ECO:0000269|PubMed:16477434}.;
Recessive Scores
- pRec
- 0.138
Intolerance Scores
- LoFtool
- 0.722
- RVIS EVS
- -0.44
- RVIS percentile EVS
- 24.46
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.197
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |