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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
RFX3
regulatory factor X3
Chromosome 9 Β· 9p24.2
NCBI Gene: 5991Ensembl: ENSG00000080298.17HGNC: HGNC:9984UniProt: P48380
48PubMed Papers
20Diseases
0Drugs
12Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
negative regulation of DNA-templated transcriptionpositive regulation of DNA-templated transcriptiontranscription cis-regulatory region bindingsequence-specific double-stranded DNA bindingneurodegenerative diseasecomplex neurodevelopmental disordergenetic disorderIntellectual disability
✦AI Summary

RFX3 is a transcription factor essential for ciliogenesis and pancreatic endocrine development. As a master regulator, RFX3 controls ciliary gene expression by binding X-box motifs in target gene promoters and forming heterodimers with other RFX proteins 1. RFX3 regulates genes required for ciliary assembly (FOXJ1, BBS4) and motility (axonemal dyneins DNAH5, DNAH9, DNAH11), governing both growth and beating efficiency of motile cilia 2. RFX3 activity is post-translationally regulated through auto-fatty acylation at conserved cysteines, which modulates its dimerization and transcriptional capacity 3. In pancreatic development, RFX3 is highly expressed in endocrine progenitors and mature islet cells, where it regulates insulin-secreting beta cell differentiation and suppresses enterochromaffin cell specification 4. Loss of RFX3 impairs beta cell function and reduces hormone-secreting cells. Clinically, RFX3 disruption associates with neurodevelopmental disorders: heterozygous variants cause autism spectrum disorder, intellectual disability, and ADHD through dysregulation of synaptic gene expression and impaired neuronal activity-dependent transcription 56. RFX3 also contributes to congenital heart disease risk through ciliary dysfunction 7. In glioma, elevated circRFX3 stabilizes RFX3 mRNA via HNRNPK recruitment, promoting tumor progression 8. RFX3 is identified as a critical gene in chromosome 9 deletion syndrome 9.

Sources cited
1
RFX3 forms heterodimers with other RFX proteins and binds X-box motifs in target gene promoters to regulate transcription
PMID: 20148032
2
RFX3 is necessary for motile cilia biogenesis, regulates FOXJ1 expression, and controls axonemal dynein genes involved in ciliary motility
PMID: 19671664
3
RFX3 undergoes auto-fatty acylation that regulates its homodimerization, ciliary gene expression, and ciliogenesis
PMID: 30127002
4
RFX3 is essential for pancreatic endocrine cell differentiation, beta cell function, and insulin secretion; loss increases enterochromaffin cells
PMID: 40263183
5
De novo RFX3 variants cause autism spectrum disorder, intellectual disability, ADHD, and sensory hypersensitivity; RFX3 is a master regulator of CNS development
PMID: 33658631
6
Monoallelic RFX3 loss disrupts synaptic gene expression and neuronal activity-dependent transcription through impaired CREB binding
PMID: 40060598
7
RFX3 perturbation impairs primary cilia formation; RFX3 is a shared ASD and congenital heart disease gene enriched for ciliary biology
PMID: 40552535
8
CircRFX3 recruits HNRNPK to stabilize RFX3 mRNA, promoting glioma cell malignancy and RFX3-mediated PROX1 transcription
PMID: 35416616
9
RFX3 is identified as one of 24 critical genes for 9p deletion syndrome through whole-genome sequencing analysis
PMID: 40196253
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.54Moderate
complex neurodevelopmental disorderOpen Targets
0.46Moderate
genetic disorderOpen Targets
0.45Moderate
Intellectual disabilityOpen Targets
0.44Moderate
Neurodevelopmental disorderOpen Targets
0.42Moderate
autism spectrum disorderOpen Targets
0.41Moderate
attention deficit hyperactivity disorderOpen Targets
0.40Moderate
prostate carcinomaOpen Targets
0.34Weak
alcohol drinkingOpen Targets
0.32Weak
nephrolithiasisOpen Targets
0.32Weak
liver diseaseOpen Targets
0.31Weak
bladder calculusOpen Targets
0.29Weak
adolescent idiopathic scoliosisOpen Targets
0.29Weak
developmental disorder of mental healthOpen Targets
0.27Weak
goutOpen Targets
0.26Weak
Delayed pubertyOpen Targets
0.25Weak
Abruptio PlacentaeOpen Targets
0.25Weak
skin diseaseOpen Targets
0.25Weak
placenta praeviaOpen Targets
0.23Weak
smoking initiationOpen Targets
0.23Weak
Pathogenic Variants12
NM_001282116.2(RFX3):c.973+1G>ALikely pathogenic
Intellectual disability
β˜…β˜†β˜†β˜†2025
NM_001282116.2(RFX3):c.115C>T (p.Gln39Ter)Pathogenic
RFX3-associated neurodevelopmental disorder
β˜…β˜†β˜†β˜†2025β†’ Residue 39
NM_001282116.2(RFX3):c.1786C>T (p.Gln596Ter)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 596
NM_001282116.2(RFX3):c.764G>A (p.Arg255His)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2024β†’ Residue 255
NM_001282116.2(RFX3):c.628C>T (p.Arg210Ter)Pathogenic
Neurodevelopmental disorder
β˜…β˜†β˜†β˜†2024β†’ Residue 210
NM_001282116.2(RFX3):c.475-1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_001282116.2(RFX3):c.937_938del (p.Val313fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 313
NM_001282116.2(RFX3):c.855C>G (p.Tyr285Ter)Likely pathogenic
RFX3-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 285
NM_001282116.2(RFX3):c.973+3A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_001282116.2(RFX3):c.1473del (p.Phe492fs)Likely pathogenic
Developmental disorder
β˜…β˜†β˜†β˜†2022β†’ Residue 492
NM_001282116.2(RFX3):c.1708dup (p.Ala570fs)Likely pathogenic
Neurodevelopmental disorder
β˜…β˜†β˜†β˜†2020β†’ Residue 570
NM_001282116.2(RFX3):c.106_109del (p.Val36fs)Likely pathogenic
RFX3-related disorder
β˜†β˜†β˜†β˜†2024β†’ Residue 36
View on ClinVar β†—
Related Genes
FOXJ1Protein interaction92%RPL30Protein interaction85%DTX2Protein interaction73%CTCFProtein interaction71%RFX6Shared pathway20%DRC2Shared pathway20%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
47%
Ovary
41%
Lung
34%
Heart
15%
Liver
9%
Gene Interaction Network
Click a node to explore
RFX3FOXJ1RPL30DTX2CTCFRFX6DRC2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P48380
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.21Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.12 [0.07–0.21]
RankingsWhere RFX3 stands among ~20K protein-coding genes
  • #9,118of 20,598
    Most Researched48
  • #2,694of 5,498
    Most Pathogenic Variants12
  • #520of 17,882
    Most Constrained (LOEUF)0.21 Β· top 5%
Genes detectedRFX3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
PMID: 33658631
Genet Med Β· 2021
1.00
2
CircRFX3 Up-regulates Its Host Gene RFX3 to Facilitate Tumorigenesis and Progression of Glioma.
PMID: 35416616
J Mol Neurosci Β· 2022
0.90
3
RFX3 is essential for the generation of functional human pancreatic islets from stem cells.
PMID: 40263183
Diabetologia Β· 2025
0.80
4
Whole-Genome Sequencing Reveals Individual and Cohort Level Insights into Chromosome 9p Syndromes.
PMID: 40196253
medRxiv Β· 2025
0.70
5
Multi-omic analysis of the ciliogenic transcription factor
PMID: 40060598
bioRxiv Β· 2025
0.60