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GeneE
1 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
RHOXF2B
Rhox homeobox family member 2B
Chromosome X Β· Xq24
NCBI Gene: 727940Ensembl: ENSG00000203989.5HGNC: HGNC:33519UniProt: P0C7M4
2PubMed Papers
5Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of gene expressionDNA-binding transcription factor activity, RNA polymerase II-specificRNA polymerase II transcription regulatory region sequence-specific DNA bindingneuron developmentneurodegenerative diseaserespiratory system diseasechronic myelogenous leukemiaazoospermia
✦AI Summary

Based on limited published evidence, RHOXF2B is a transcription factor involved in reproductive processes. UniProt annotations indicate it modulates expression of target genes encoding proteins relevant to spermatogenesis. GO terms support its role as a DNA-binding transcription factor with RNA polymerase II-specific activity, involved in positive regulation of gene expression and chrX regulation. Recent epigenetic studies 1 demonstrate that RHOXF2B is a methylation-sensitive, germline-specific gene whose promoter can be reactivated through active DNA demethylation mechanisms, suggesting its importance in germline-specific gene regulation.

Sources cited
1
RHOXF2B is identified as a methylation-sensitive, germline-specific gene whose promoter can be reactivated through DNA demethylation processes involving TET-mediated oxidation of 5-methylcytosine
PMID: 37808741
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜5
neurodegenerative diseaseOpen Targets
0.37Weak
respiratory system diseaseOpen Targets
0.25Weak
chronic myelogenous leukemiaOpen Targets
0.01Suggestive
azoospermiaOpen Targets
0.00Suggestive
oligospermiaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
RHOXF2Shared pathway100%RHOXF1Shared pathway67%ALX3Shared pathway50%ISXShared pathway50%ARXShared pathway50%DRGXShared pathway50%
Tissue Expression6 tissues
Ovary
0%
Liver
0%
Heart
0%
Brain
0%
Lung
0%
Bone Marrow
0%
Gene Interaction Network
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RHOXF2BRHOXF2RHOXF1ALX3ISXARXDRGX
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt P0C7M4
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.53Moderately Constrained
pLIβ“˜
0.93Intolerant
Observed/Expected LoF0.11 [0.04–0.53]
RankingsWhere RHOXF2B stands among ~20K protein-coding genes
  • #19,221of 20,598
    Most Researched2
  • #3,301of 17,882
    Most Constrained (LOEUF)0.53 Β· top quartile
Genes detectedRHOXF2B
Sources retrieved1 papers
Response timeβ€”
πŸ“„ Sources
1
1
5-hydroxymethylcytosines regulate gene expression as a passive DNA demethylation resisting epigenetic mark in proliferative somatic cells.
PMID: 37808741
bioRxiv Β· 2023
1.00