NR2F1

Chr 5q15

nuclear receptor subfamily 2 group F member 1

Aliases:: EAR-3, COUP-TFI, TCFCOUP1, SVP44, COUPTF1
MANE:: ENST00000327111.8

OMIM: 132890 ↗NCBI: 7025 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

NR2F1 · P10589

v62025-08-01

Predicted Aligned Error matrix for NR2F1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

75.3/ 100

Confident

423 residues

Confidence breakdown

Very high(≥ 90)48%
Confident(70–90)18%
Low(50–70)6%
Very low(< 50)29%

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
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic neuropathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic hearing loss
Retinal disorders
Structural eye disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

Bosch-Boonstra-Schaaf optic atrophy syndrome
0.81
Optic atrophy-intellectual disability syndrome
0.69
hereditary disease
0.53
neurodegenerative disease
0.50
Neurodevelopmental delay
0.41
intelligence
0.39
mathematical ability
0.34
autism spectrum disorder
0.34
Seizure
0.33
type 2 diabetes mellitus
0.33

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

Protein function (UniProt)

COUP transcription factor 1

Coup (chicken ovalbumin upstream promoter) transcription factor binds to the ovalbumin promoter and, in conjunction with another protein (S300-II) stimulates initiation of transcription. Binds to both direct repeats and palindromes of the 5'-AGGTCA-3' motif. Represses transcriptional activity of LHCG