RHEX
protein-codingregulator of hemoglobinization and erythroid cell expansion
Gene summary
Enables erythropoietin receptor binding activity. Involved in erythropoietin-mediated signaling pathway and positive regulation of erythrocyte differentiation. Located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
- C1orf186
MANE transcript
Inheritance
ClinVar variants
Top phenotype
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~49.3 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 RHEX variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001007544.4. 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 | 2 | 1 | 3 | |||
| missense | 1 | 2 | 3 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 3 | 3 | ||||
| Total | 0 | 0 | 4 | 2 | 3 | 9 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001007545.1 | 5 | MANE Select | |
| Ensembl | ENSP00000356093.1 | 5 | MANE Select | |
| RefSeq | NP_001356419.1 | 5 | Standard | |
| Ensembl | ENSP00000463990.1 | 5 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- cellular response to erythropoietin
- erythropoietin-mediated signaling pathway
- erythrocyte maturation
- positive regulation of erythrocyte differentiation
Molecular Function
- erythropoietin receptor binding
- protein binding
Cellular Component
- plasma membrane
- integral component of membrane
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Acts as a signaling transduction factor of the EPO-EPOR signaling pathway promoting erythroid cell differentiation (PubMed:25092874). {ECO:0000269|PubMed:25092874}.;
Intolerance Scores
- RVIS EVS
- 0.26
- RVIS percentile EVS
- 70.06