RFXANK

Chr 19p13.11

regulatory factor X associated ankyrin containing protein

Aliases:: BLS, RFX-B, ANKRA1, F14150_1, MGC138628
MANE:: ENST00000303088.9

OMIM: 603200 ↗NCBI: 8625 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

RFXANK · O14593

v62025-08-01

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

Mean pLDDT

78.1/ 100

Confident

260 residues

Confidence breakdown

Very high(≥ 90)59%
Confident(70–90)3%
Low(50–70)10%
Very low(< 50)28%

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
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Immunodeficiency by defective expression of HLA class 2
0.75
MHC class II deficiency
0.66
MHC class II deficiency 2
0.52
hereditary disease
0.41
MHC class II deficiency 3
0.34
immunodeficiency disease
0.27
MHC class II deficiency 5
0.12
bipolar disorder
0.04
Abnormality of the skeletal system
0.03
Barrett esophagus
0.03

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

Protein function (UniProt)

DNA-binding protein RFXANK

Activates transcription from class II MHC promoters. Activation requires the activity of the MHC class II transactivator/CIITA. May regulate other genes in the cell. RFX binds the X1 box of MHC-II promoters (PubMed:10072068, PubMed:10725724, PubMed:9806546). May also potentiate the activation of RAF1 (By similarity)