NR2F1

Chr 5

nuclear receptor subfamily 2 group F member 1

Also known as: BBOAS, BBSOAS, COUP-TFI, COUPTF1, EAR-3, EAR3, ERBAL3, SVP44

NCBI Gene: 7025ENSG00000175745UniProt: P10589

The protein encoded by this gene is a nuclear hormone receptor and transcriptional regulator. The encoded protein acts as a homodimer and binds to 5'-AGGTCA-3' repeats. Defects in this gene are a cause of Bosch-Boonstra optic atrophy syndrome (BBOAS). [provided by RefSeq, Apr 2014]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtBosch-Boonstra-Schaaf optic atrophy syndrome

Clinical highlights

Gene-disease validity (ClinGen)
Bosch-Boonstra-Schaaf optic atrophy syndrome · ADDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
51
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.19
LOEUF· LoF intol.
LOF
Mechanism· G2P
📖
GeneReview available — NR2F1
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint?
0.19LOEUF
pLI 0.995
Z-score 3.66
OE 0.00 (0.00–0.19)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
4.17Z-score
OE missense 0.25 (0.21–0.31)
63 obs / 247.3 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.00 (0.00–0.19)
0≤0.351.4
Missense OE?0.25 (0.21–0.31)
0≤0.61.4
Synonymous OE?0.92
0≤1.21.6
LoF obs/exp: 0 / 15.6Missense obs/exp: 63 / 247.3Syn Z: 0.63

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NR2F1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients