RFX3: Regulatory Factor X3
A key transcription factor in ciliogenesis and pancreatic development
Gene Information Card
| Symbol | RFX3 |
|---|---|
| Full Name | Regulatory Factor X3 |
| Gene Type | Protein coding |
| Chromosomal Location | 9p24.2 |
| NCBI Gene ID | 5991 ncbi.nlm.nih.gov/gene/5991 |
| Ensembl ID | ENSG00000080298 |
| UniProt ID | P48380 |
| OMIM ID | 601337 |
| HGNC ID | 9984 |
| Aliases | RFX3, FLJ20321, RFX3A, RFX3B |
Description
RFX3 (Regulatory Factor X3) encodes a member of the regulatory factor X (RFX) family of transcription factors, characterized by a conserved winged-helix DNA-binding domain. RFX3 binds to X-box sequences in the promoter regions of target genes and is essential for ciliogenesis, particularly in the formation of primary cilia. It also plays a critical role in pancreatic beta-cell differentiation and function. Mutations in RFX3 are associated with ciliopathies and may contribute to diabetes susceptibility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ciliopathy (e.g., Bardet-Biedl syndrome-like phenotypes) | Loss of RFX3 function disrupts ciliary gene expression, impairing primary cilia formation and function. | OMIM #601337; PMID: 15186777 |
| Type 2 diabetes | RFX3 regulates pancreatic beta-cell development and insulin secretion; reduced expression linked to impaired glucose homeostasis. | PMID: 20081195; PMID: 22991444 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 12.5 | Medium |
| Testis | 8.3 | Medium |
| Brain | 6.1 | Low |
| Lung | 5.4 | Low |
| Kidney | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 7.2 | Cervical carcinoma cell line |
| HepG2 | 5.9 | Hepatocellular carcinoma cell line |
| K562 | 4.1 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | Rare | Loss of function; truncation of DNA-binding domain |
| c.1582G>A (p.Gly528Arg) | Missense | Rare | Likely loss of function; disrupts transactivation domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that impair DNA binding or transactivation lead to loss of function, contributing to ciliopathy phenotypes.
Gain of Function (GOF)
No gain-of-function mutations reported in RFX3.
Dominant Negative (DN)
No dominant-negative mutations reported in RFX3.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ciliogenesis (RFX family pathway)
• Pancreatic beta-cell development
Protein Summary
RFX3 is a 757-amino acid transcription factor containing a conserved RFX DNA-binding domain and a C-terminal transactivation domain. It forms homodimers or heterodimers with other RFX family members to regulate expression of genes involved in cilia formation and function. In the pancreas, RFX3 is required for proper beta-cell differentiation and insulin secretion. The protein is localized to the nucleus and is expressed in multiple tissues, with highest levels in pancreas and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RFX3 Knockout HEK293 Cell Line | EDJ-KQ5657 | Human | 5991 | Details Get a Quote |
| RFX3 Knockout A-549 Cell Line | EDJ-KQ29007 | Human | 5991 | Details Get a Quote |
| RFX3 Knockout HCT 116 Cell Line | EDJ-KQ29008 | Human | 5991 | Details Get a Quote |
| RFX3 Knockout HeLa Cell Line | EDJ-KQ29009 | Human | 5991 | Details Get a Quote |
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