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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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RFX2
regulatory factor X2
Chromosome 19 · 19p13.3
NCBI Gene: 5990Ensembl: ENSG00000087903.14HGNC: HGNC:9983UniProt: P48378
32PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
sequence-specific double-stranded DNA bindingprotein bindingchromatincytoplasmtooth agenesisThromboembolismazoospermiapartial chromosome Y deletion
✦AI Summary

RFX2 is a transcription factor that serves as a master regulator of spermatogenesis, particularly controlling gene expression during the haploid phase of sperm development 1. The protein recognizes and binds to X-box regulatory motifs in gene promoters to activate transcription 2. RFX2 knockout mice are viable but exhibit complete male sterility due to arrest in spermatid development prior to elongation, with defects in acrosome formation and complete failure to form flagellar axonemes 1. Through RNA-Seq and ChIP-Seq analyses, RFX2 has been identified as directly controlling 139 genes during spermiogenesis, with particular enrichment for genes required for cilium function and assembly 1. The transcription factor also coordinates cell movement by controlling apical surface expansion in multi-ciliated epithelial cells 3. Beyond reproductive function, RFX2 demonstrates oncogenic potential, acting as a transcriptional suppressor of BNIP3 in non-small cell lung cancer, where its degradation leads to mitophagy activation and drug resistance 4. In spinal ependymoma, RFX2 promotes tumor stemness through epigenetic regulation of PAF1 5. Genetic variants in RFX2 have been associated with male infertility, particularly azoospermia, highlighting its clinical relevance in reproductive health 6.

Sources cited
1
RFX2 is a master regulator of spermiogenesis, controls 139 genes directly, and knockout causes male sterility with spermatid developmental arrest
PMID: 26162102
2
RFX2 binds to X-box motifs in gene promoters to activate transcription
PMID: 18247329
3
RFX2 coordinates cell movement and controls apical surface expansion in multi-ciliated epithelial cells
PMID: 24424412
4
RFX2 acts as transcriptional suppressor of BNIP3 in lung cancer and its degradation leads to mitophagy activation
PMID: 40715489
5
RFX2 promotes tumor stemness through epigenetic regulation of PAF1 in spinal ependymoma
PMID: 38057505
6
Genetic variants in RFX2 are associated with increased risk of azoospermia
PMID: 34762273
Disease Associationsⓘ20
tooth agenesisOpen Targets
0.26Weak
ThromboembolismOpen Targets
0.25Weak
azoospermiaOpen Targets
0.10Weak
partial chromosome Y deletionOpen Targets
0.09Suggestive
spermatogenic failure 50Open Targets
0.09Suggestive
spermatogenic failure 57Open Targets
0.09Suggestive
spermatogenic failure 25Open Targets
0.09Suggestive
spermatogenic failure 71Open Targets
0.08Suggestive
spermatogenic failure 78Open Targets
0.08Suggestive
isochromosomy YpOpen Targets
0.08Suggestive
spermatogenic failure 72Open Targets
0.08Suggestive
spermatogenic failure 20Open Targets
0.08Suggestive
male infertility with teratozoospermia due to single gene mutationOpen Targets
0.08Suggestive
spermatogenic failure 63Open Targets
0.08Suggestive
spermatogenic failure 59Open Targets
0.08Suggestive
spermatogenic failure 60Open Targets
0.08Suggestive
spermatogenic failure 73Open Targets
0.08Suggestive
spermatogenic failure 74Open Targets
0.08Suggestive
spermatogenic failure 18Open Targets
0.08Suggestive
spermatogenic failure 46Open Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FOXJ1Protein interaction96%IFT88Protein interaction82%ATRProtein interaction80%RPL30Protein interaction78%SPINK2Shared pathway67%PDCL2Shared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
79%
Brain
64%
Ovary
59%
Heart
26%
Liver
17%
Gene Interaction Network
Click a node to explore
RFX2FOXJ1IFT88ATRRPL30SPINK2PDCL2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P48378
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.37Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.25 [0.17–0.37]
RankingsWhere RFX2 stands among ~20K protein-coding genes
  • #11,598of 20,598
    Most Researched32
  • #1,708of 17,882
    Most Constrained (LOEUF)0.37 · top 10%
Genes detectedRFX2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
RFX2-BNIP3 axis-driven adaptive mitophagy promotes resistance to ACK1-targeted therapy in non-small cell lung cancer.
PMID: 40715489
Oncogene · 2025
1.00
2
Locations of human and mouse genes encoding the RFX1 and RFX2 transcription factor proteins.
PMID: 8661125
Genomics · 1996
0.90
3
Association of the common SNPs in RNF212, STAG3 and RFX2 gene with male infertility with azoospermia in Chinese population.
PMID: 29277047
Eur J Obstet Gynecol Reprod Biol · 2018
0.80
4
Coordinated genomic control of ciliogenesis and cell movement by RFX2.
PMID: 24424412
Elife · 2014
0.70
5
RFX2 Is a Major Transcriptional Regulator of Spermiogenesis.
PMID: 26162102
PLoS Genet · 2015
0.60