FOXR1

Chr 11q23.3

forkhead box R1

Aliases:: DLNB13, FOXN5
MANE:: ENST00000317011.8

OMIM: 615755 ↗NCBI: 283150 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

FOXR1 · Q6PIV2

v62025-08-01

Predicted Aligned Error matrix for FOXR1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

66.3/ 100

Low

292 residues

Confidence breakdown

Very high(≥ 90)26%
Confident(70–90)14%
Low(50–70)28%
Very low(< 50)32%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

microcephaly
0.19
hepatocellular carcinoma
0.19
prostate carcinoma
0.19
urinary bladder carcinoma
0.19
lung adenocarcinoma
0.19
Global developmental delay
0.19
Brain atrophy
0.19
acute myeloid leukemia
0.19
female breast carcinoma
0.18
endometrial endometrioid adenocarcinoma
0.18

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

Protein function (UniProt)

Forkhead box protein R1

Transcription factor which acts as both an activator and a repressor (PubMed:34723967). Activates transcription of a number of genes including the heat shock chaperones HSPA1A and HSPA6 and the antioxidant NADPH-dependent reductase DHRS2 which are involved in protection against oxidative stress (PubMed:34723967). Required for normal brain development (By similarity)