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9 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RHEX
regulator of hemoglobinization and erythroid cell expansion
Chromosome 1 · 1q32.1
NCBI Gene: 440712Ensembl: ENSG00000263961.9HGNC: HGNC:25341UniProt: Q6ZWK4
11PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
erythropoietin receptor bindingprotein bindingcellular response to erythropoietinerythropoietin-mediated signaling pathwayneoplasmnon-small cell lung carcinomaacute myeloid leukemialung adenocarcinoma
✦AI Summary

RHEX (regulator of hemoglobinization and erythroid cell expansion) is a primate-specific signaling adaptor protein that regulates erythroid cell differentiation through the EPO-EPOR pathway 1. As a plasma membrane protein, RHEX becomes rapidly phosphorylated (>20-fold) upon EPO stimulation and directly couples to the erythropoietin receptor via GRB2, propagating signals essential for red blood cell production 1. RHEX knockdown in erythroid progenitor cells inhibits EPO-dependent growth and impairs formation of hemoglobinizing erythroblasts, indicating roles in both early expansion and late-stage erythroblast development 1. Notably, RHEX exhibits restricted tissue expression with particular abundance in mast cells, where it unexpectedly functions as a negative regulator of SCF/KIT signaling by suppressing ERK1/2 and p38 activation 2. In the context of EPO signaling, PTPN18 phosphatase negatively regulates RHEX phosphorylation at Y141, representing a regulatory mechanism that modulates EPO-dependent hematopoietic cell growth 3. The human-specific nature of RHEX and its multiple lineage-dependent regulatory roles suggest specialized functions in human erythropoiesis and immune cell biology.

Sources cited
1
RHEX is an EPO-EPOR target that acts as a signaling adaptor, becoming phosphorylated upon EPO exposure, coupling to GRB2, and regulating both erythroid progenitor expansion and hemoglobinizing erythroblast formation
PMID: 25092874
2
RHEX functions as a negative regulator of SCF/KIT signaling in mast cells, suppressing ERK1/2 and p38 activation and demonstrating lineage-restricted expression
PMID: 37174705
3
PTPN18 phosphatase modulates RHEX phosphorylation at Y141, representing a regulatory mechanism in EPO-dependent signaling
PMID: 32027948
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
neoplasmOpen Targets
0.04Suggestive
non-small cell lung carcinomaOpen Targets
0.04Suggestive
acute myeloid leukemiaOpen Targets
0.02Suggestive
lung adenocarcinomaOpen Targets
0.02Suggestive
ovarian carcinomaOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
dysplasiaOpen Targets
0.01Suggestive
acute myeloid leukemia by FAB classificationOpen Targets
0.01Suggestive
papillary renal cell carcinomaOpen Targets
0.01Suggestive
chronic myelogenous leukemiaOpen Targets
0.00Suggestive
ovarian cancerOpen Targets
0.00Suggestive
uterine leiomyosarcomaOpen Targets
0.00Suggestive
monoclonal gammopathyOpen Targets
0.00Suggestive
Cognitive impairmentOpen Targets
0.00Suggestive
lymph node metastatic carcinomaOpen Targets
0.00Suggestive
endometrial cancerOpen Targets
0.00Suggestive
MALT lymphomaOpen Targets
0.00Suggestive
exstrophy-epispadias complexOpen Targets
0.00Suggestive
Miyoshi myopathyOpen Targets
0.00Suggestive
pure red-cell aplasiaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
EPORShared pathway50%ANKRD54Shared pathway33%ABCB10Shared pathway17%GLULShared pathway14%BRD1Shared pathway14%ZNF16Shared pathway14%
Tissue Expression6 tissues
Lung
100%
Liver
61%
Bone Marrow
30%
Heart
15%
Brain
13%
Ovary
12%
Gene Interaction Network
Click a node to explore
RHEXEPORANKRD54ABCB10GLULBRD1ZNF16
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q6ZWK4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.54LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.03 [0.71–1.54]
RankingsWhere RHEX stands among ~20K protein-coding genes
  • #16,883of 20,598
    Most Researched11
  • #15,413of 17,882
    Most Constrained (LOEUF)1.54
Genes detectedRHEX
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
RHEX, a novel regulator of human erythroid progenitor cell expansion and erythroblast development.
PMID: 25092874
J Exp Med · 2014
1.00
2
Single-cell profiling of the pig cecum at various developmental stages.
PMID: 38114433
Zool Res · 2024
0.89
3
Clorfl86/RHEX Is a Negative Regulator of SCF/KIT Signaling in Human Skin Mast Cells.
PMID: 37174705
Cells · 2023
0.78
4
RHEX, a novel regulator of human erythroid progenitor cell expansion and erythroblast development.
PMID: 25941257
J Exp Med · 2015
0.67
5
Micro-rhex-pression technique: A novel approach for safe and predictable rhexis in intumescent cataracts.
PMID: 40995913
Indian J Ophthalmol · 2025
0.56