RFX4

Chr 12q23.3

regulatory factor X4

MANE:: ENST00000392842.6

OMIM: 603958 ↗NCBI: 5992 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

RFX4 · Q33E94

v62025-08-01

Predicted Aligned Error matrix for RFX4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

65.9/ 100

Low

735 residues

Confidence breakdown

Very high(≥ 90)41%
Confident(70–90)13%
Low(50–70)2%
Very low(< 50)44%

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)

complex neurodevelopmental disorder
0.42
open-angle glaucoma
0.39
Intellectual disability
0.37
autism spectrum disorder
0.37
alcohol drinking
0.36
atrial fibrillation
0.35
obesity disorder
0.35
neurodegenerative disease
0.34
glaucoma
0.33
cardiomyopathy
0.30

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

Protein function (UniProt)

Transcription factor RFX4

Transcription factor that plays a role in early brain development. May activate transcription by interacting directly with the X-box. May activate transcription from CX3CL1 promoter through the X-box during brain development. May be required for neural tube ciliogenesis during embryogenesis (By similarity)