Gene Gene information from NCBI Gene database.
Entrez ID 7025
Gene name Nuclear receptor subfamily 2 group F member 1
Gene symbol NR2F1
Synonyms (NCBI Gene)
BBOASBBSOASCOUP-TFICOUPTF1EAR-3EAR3ERBAL3SVP44TCFCOUP1TFCOUP1
Chromosome 5
Chromosome location 5q15
Summary 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). [pr
SNPs SNP information provided by dbSNP.
30
SNP ID Visualize variation Clinical significance Consequence
rs530910180 C>A,T Likely-pathogenic Coding sequence variant, synonymous variant, stop gained
rs587777274 G>C Pathogenic-likely-pathogenic Genic upstream transcript variant, coding sequence variant, missense variant, upstream transcript variant
rs587777275 C>A,T Pathogenic-likely-pathogenic Missense variant, genic upstream transcript variant, upstream transcript variant, synonymous variant, coding sequence variant
rs587777276 T>C Likely-pathogenic Coding sequence variant, missense variant
rs587777277 G>A Likely-pathogenic Genic upstream transcript variant, coding sequence variant, missense variant, upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
2
miRTarBase ID miRNA Experiments Reference
MIRT047264 hsa-miR-181b-5p CLASH 23622248
MIRT045568 hsa-miR-149-5p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
CREB1 Repression 15955695
ESRRA Repression 15955695
TWIST1 Activation 19051271
TWIST2 Activation 19051271
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 10644740
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 10644740
GO:0001227 Function DNA-binding transcription repressor activity, RNA polymerase II-specific IDA 10644740
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
132890 7975 ENSG00000175745
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P10589
Protein name COUP transcription factor 1 (COUP-TF1) (COUP transcription factor I) (COUP-TF I) (Nuclear receptor subfamily 2 group F member 1) (V-erbA-related protein 3) (EAR-3)
Protein function 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'-AGG
PDB 2EBL
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00105 zf-C4 84 153 Zinc finger, C4 type (two domains) Domain
PF00104 Hormone_recep 204 394 Ligand-binding domain of nuclear hormone receptor Domain
Sequence
Sequence length 423
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Nuclear Receptor transcription pathway
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autism spectrum disorder Likely pathogenic rs2480817986 RCV003127332
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bosch-Boonstra-Schaaf optic atrophy syndrome Pathogenic; Likely pathogenic rs2149941586, rs1306612236, rs1342982789, rs2149946049, rs2149941592, rs2149941551, rs2149941524, rs1753260850, rs587777274, rs587777275, rs587777276, rs587777277, rs2149941611, rs2149946121, rs2149943098
View all (34 more)
RCV001353109
RCV001353110
RCV001353111
RCV001353112
RCV001754557
View all (47 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental delay Pathogenic; Likely pathogenic rs2149943041, rs1554074682 RCV002274360
RCV002274359
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NR2F1-related disorder Likely pathogenic rs2149941577 RCV003961562
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Epilepsy Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OPTIC ATROPHY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenoma Adenoma BEFREE 9851803
★☆☆☆☆
Found in Text Mining only
Adrenal Cortical Adenoma Adrenocortical adenoma BEFREE 9851803
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 30653836
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 30653836
★☆☆☆☆
Found in Text Mining only
Atrophy Atrophy Pubtator 36702506 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 31729143 Associate
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autistic Disorder Autism Pubtator 30628890, 39972940 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 10772965, 17674191, 23785296, 24906407, 30322396
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma CTD_human_DG 11850205
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 19154418, 24906407 Stimulate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations