RFX5

Chr 1q21.3

regulatory factor X5

MANE:: ENST00000452671.7

OMIM: 601863 ↗NCBI: 5993 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

RFX5 · P48382

v62025-08-01

Predicted Aligned Error matrix for RFX5 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

57.1/ 100

Low

616 residues

Confidence breakdown

Very high(≥ 90)18%
Confident(70–90)11%
Low(50–70)10%
Very low(< 50)60%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

MHC class II deficiency
0.74
Immunodeficiency by defective expression of HLA class 2
0.70
MHC class II deficiency 3
0.53
severe combined immunodeficiency
0.46
combined immunodeficiency
0.46
MHC class II deficiency 5
0.46
neurodegenerative disease
0.37
hepatocellular carcinoma
0.10
neoplasm
0.08
polyarteritis nodosa
0.08

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

Protein function (UniProt)

DNA-binding protein RFX5

Activates transcription from class II MHC promoters. Recognizes X-boxes. Mediates cooperative binding between RFX and NF-Y. RFX binds the X1 box of MHC-II promoters