The NR2F1 gene homepage logo
A database from the MITOchondrial DYNamics variation portal "".
General information
Gene symbol NR2F1
Gene name nuclear receptor subfamily 2, group F, member 1
Chromosome 5
Chromosomal band q14
Imprinted Unknown
Genomic reference NG_034119.1
Transcript reference NM_005654.4
Exon/intron information NM_005654.4 exon/intron table
Associated with diseases BBSOAS, neuropathy, optic
Citation reference(s) Journal: Billiet 2021
Refseq URL Genomic reference sequence
Curators (1) Marc Ferre
Total number of public variants reported 127
Unique public DNA variants reported 100
Individuals with public variants 91
Hidden variants 64
Download all this gene's data Download all data
Notes Pathogenic variants of the nuclear receptor subfamily 2 group F member 1 gene (NR2F1; MIM# 132890) are responsible for Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS; MIM# 615722), an autosomal dominant disorder characterized by optic atrophy associated with developmental delay and intellectual disability.
Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created May 03, 2013
Date last updated November 27, 2023
Version NR2F1:231127

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_005654.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 7975
Entrez Gene 7025
PubMed articles NR2F1
OMIM - Gene 132890
OMIM - Diseases BBSOAS (Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS))
GeneCards NR2F1
GeneTests NR2F1
Orphanet NR2F1

Active transcripts




NCBI ID     

NCBI Protein ID     

00014783 5 nuclear receptor subfamily 2, group F, member 1 NM_005654.4 NP_005645.1 127

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