RFX3

Chr 9p24.2

regulatory factor X3

MANE:: ENST00000617270.5

OMIM: 601337 ↗NCBI: 5991 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

RFX3 · P48380

v62025-08-01

Predicted Aligned Error matrix for RFX3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

66.6/ 100

Low

749 residues

Confidence breakdown

Very high(≥ 90)41%
Confident(70–90)13%
Low(50–70)5%
Very low(< 50)41%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

neurodegenerative disease
0.54
complex neurodevelopmental disorder
0.50
hereditary disease
0.45
Intellectual disability
0.44
neurodevelopmental disorder
0.42
autism spectrum disorder
0.41
alcohol drinking
0.41
attention deficit-hyperactivity disorder
0.41
urolithiasis
0.32
liver disorder
0.32

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Transcription factor RFX3

Transcription factor required for ciliogenesis and islet cell differentiation during endocrine pancreas development. Essential for the differentiation of nodal monocilia and left-right asymmetry specification during embryogenesis. Required for the biogenesis of motile cilia by governing growth and beating efficiency of motile cells. Also required for ciliated ependymal cell differentiation. Regulates the expression of genes involved in ciliary assembly (DYNC2LI1, FOXJ1 and BBS4) and genes involved in ciliary motility (DNAH11, DNAH9 and DNAH5) (By similarity). Together with RFX6, participates in the differentiation of 4 of the 5 islet cell types during endocrine pancreas development, with the exception of pancreatic PP (polypeptide-producing) cells. Regulates transcription by forming a heterodimer with another RFX protein and binding to the X-box in the promoter of target genes (PubMed:20148032). Represses transcription of MAP1A in non-neuronal cells but not in neuronal cells (PubMed:12411430)