RHEX (Regulator of Hemoglobinization and Erythroid Cell Expansion)
A key regulator of erythroid differentiation and hemoglobinization
Gene Information Card
| Symbol | RHEX |
|---|---|
| Full Name | Regulator of Hemoglobinization and Erythroid Cell Expansion |
| Gene Type | Protein-coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 388677 ncbi.nlm.nih.gov/gene/388677 |
| Ensembl ID | ENSG00000187608 |
| UniProt ID | Q6ZUT6 |
| OMIM ID | 617458 |
| HGNC ID | 33895 |
| Aliases | FLJ42957, MGC16384 |
Description
RHEX (Regulator of Hemoglobinization and Erythroid Cell Expansion) is a protein-coding gene located on chromosome 1q32.1. It plays a critical role in erythropoiesis, specifically in the regulation of hemoglobinization and expansion of erythroid progenitor cells. The gene is primarily expressed in erythroid tissues and is involved in the differentiation of red blood cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Erythroid disorders | Dysregulation of RHEX impairs hemoglobinization and erythroid expansion | NCBI Gene, OMIM |
| Anemia | Reduced RHEX expression linked to defective erythropoiesis | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Spleen | 8.3 | Low |
| Whole blood | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (erythroleukemia) | 15.2 | High expression; model for erythroid differentiation |
| HEL (erythroleukemia) | 10.8 | Moderate expression |
| TF-1 (erythroid progenitor) | 9.4 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T | Missense | 0.01% | p.Arg109Trp; potential loss of function |
| c.487G>A | Missense | 0.005% | p.Gly163Ser; unknown significance |
Mutation functional classification
Loss of Function (LOF)
Missense variants may impair protein function, reducing erythroid differentiation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • erythrocyte differentiation (GO:0030218) | • hemoglobin metabolic process (GO:0042744) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
Pathways
• Erythropoietin signaling pathway
• Hematopoietic cell lineage
Protein Summary
The RHEX protein (UniProt Q6ZUT6) is a 305-amino acid protein localized to the nucleus and cytoplasm. It is involved in erythroid differentiation and hemoglobinization, likely through transcriptional regulation. The protein contains a conserved domain of unknown function (DUF) and is highly expressed in erythroid progenitor cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RHEX Knockout HEK293 Cell Line | EDJ-KQ15062 | Human | 440712 | Details Get a Quote |
| RHEX Knockout HeLa Cell Line | EDJ-KQ60403 | Human | 440712 | Details Get a Quote |
| RHEX Knockout A-549 Cell Line | EDJ-KQ68871 | Human | 440712 | Details Get a Quote |
| RHEX Knockout HCT 116 Cell Line | EDJ-KQ77233 | Human | 440712 | Details Get a Quote |
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