Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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

Show/Hide all (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
rs778199728	A>G,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant, upstream transcript variant, genic upstream transcript variant
rs863224903	T>C	Likely-pathogenic	Coding sequence variant, missense variant, upstream transcript variant, genic upstream transcript variant
rs886039714	G>A	Pathogenic	Coding sequence variant, missense variant, upstream transcript variant, genic upstream transcript variant
rs886041216	T>C	Pathogenic	Missense variant, initiator codon variant, genic upstream transcript variant
rs886041738	C>T	Pathogenic	Coding sequence variant, missense variant, upstream transcript variant, genic upstream transcript variant
rs1022192010	C>T	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant
rs1057519434	G>A	Pathogenic	Upstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs1057522318	G>C	Likely-pathogenic	Upstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs1064794459	TTC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1064796799	A>G	Pathogenic	Initiator codon variant, missense variant, genic upstream transcript variant
rs1064797311	C>A	Likely-pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, stop gained
rs1131691826	G>A	Likely-pathogenic	Upstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs1287146448	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs1297603674	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1554074673	A>C	Pathogenic	Coding sequence variant, missense variant, upstream transcript variant, genic upstream transcript variant
rs1554074682	G>T	Likely-pathogenic	Coding sequence variant, missense variant, upstream transcript variant, genic upstream transcript variant
rs1554074684	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, upstream transcript variant, genic upstream transcript variant
rs1554074850	GC>CT	Likely-pathogenic	Coding sequence variant, stop gained
rs1554075105	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1561523678	G>T	Likely-pathogenic	Coding sequence variant, missense variant, upstream transcript variant, genic upstream transcript variant
rs1561523796	T>G	Pathogenic	Coding sequence variant, stop gained, upstream transcript variant, genic upstream transcript variant
rs1580358347	CCGCGGCGGC>-	Likely-pathogenic	Frameshift variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs1580358650	AACT>-	Likely-pathogenic	Frameshift variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs1580358677	G>C	Likely-pathogenic	Upstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs1580360308	AA>-	Pathogenic	Frameshift variant, coding sequence variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT047264	hsa-miR-181b-5p	CLASH	23622248
MIRT045568	hsa-miR-149-5p	CLASH	23622248

Show/Hide all (4)

Transcription factor	Regulation	Reference
CREB1	Repression	15955695
ESRRA	Repression	15955695
TWIST1	Activation	19051271
TWIST2	Activation	19051271

Show/Hide all (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
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	10644740
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	2739739
GO:0004879	Function	Nuclear receptor activity	IBA
GO:0005515	Function	Protein binding	IPI	1517211, 11043578
GO:0005634	Component	Nucleus	IDA	10644740
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0007165	Process	Signal transduction	TAS	2739739
GO:0007399	Process	Nervous system development	IBA
GO:0007399	Process	Nervous system development	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010977	Process	Negative regulation of neuron projection development	IEA
GO:0030154	Process	Cell differentiation	IBA
GO:0030522	Process	Intracellular receptor signaling pathway	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	10644740
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0044323	Function	Retinoic acid-responsive element binding	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
132890	7975	ENSG00000175745

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

MAMVVSSWRDPQDDVAGGNPGGPNPAAQAARGGGGGAGEQQQQAGSGAPHTPQTPGQPGA
PATPGTAGDKGQGPPGSGQSQQHIECVVCGDKSSGKHYGQFTCEGCKSFFKRSVRRNLTY
TCRANRNCPIDQHHRNQCQYCRLKKCLKVGMRREAVQRGRMPPTQPNPGQYALTNGDPLN
GHCYLSGYISLLLRAEPYPTSRYGSQCMQPNNIMGIENICELAARLLFSAVEWARNIPFF
PDLQITDQVSLLRLTWSELFVLNAAQCSMPLHVAPLLAAAGLHASPMSADRVVAFMDHIR
IFQEQVEKLKALHVDSAEYSCLKAIVLFTSDACGLSDAAHIESLQEKSQCALEEYVRSQY
PNQPSRFGKLLLRLPSLRTVSSSVIEQLFFVRLVGKTPIETLIRDMLLSGSSFNWPYMSI
QCS

Sequence length

423

Interactions

View interactions

	Reactome
			Nuclear Receptor transcription pathway

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism spectrum disorder	Likely pathogenic	rs2480817986	RCV003127332
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 RCV001775352 RCV001775376 RCV001775448 RCV000114387 RCV000114388 RCV000114389 RCV000114390 RCV001823039 RCV002249111 RCV002273331 RCV002287634 RCV002292714 RCV002471324 RCV002470479 RCV002795906 RCV000200428 RCV001353108 RCV005869202 RCV003314114 RCV003387581 RCV003482194 RCV003494604 RCV003883300 RCV003883305 RCV004560364 RCV004594768 RCV004594769 RCV000416416 RCV000505414 RCV001249826 RCV000677703 RCV000656396 RCV000677407 RCV000677401 RCV000824861 RCV000824821 RCV000985203 RCV001004747 RCV001027649 RCV001027693 RCV001192937 RCV001196876 RCV001198789 RCV001196236 RCV001253606 RCV001254042 RCV001270370
Neurodevelopmental delay	Pathogenic; Likely pathogenic	rs2149943041, rs1554074682	RCV002274360 RCV002274359
NR2F1-related disorder	Likely pathogenic	rs2149941577	RCV003961562
See cases	Likely pathogenic; Pathogenic	rs2149941608, rs886041738	RCV001420226 RCV003156192
Seizure	Likely pathogenic	rs1064797311	RCV002275466

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Epilepsy	Conflicting classifications of pathogenicity	rs2480802060	RCV005626784
Retinal dystrophy	Uncertain significance	rs1192010938	RCV004816890

Show/Hide Text Mining Associations (54)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Atrophy	Associate	36702506
Autism Spectrum Disorder	Associate	31729143
Autistic Disorder	Associate	30628890, 39972940
Breast Neoplasms	Stimulate	19154418, 24906407
Breast Neoplasms	Associate	30322396, 31146704, 35083026, 35471456, 37575267
Carcinogenesis	Associate	32784268
Carcinoma Hepatocellular	Associate	29602203, 38052560
Carcinoma Intraductal Noninfiltrating	Inhibit	35471456
Carcinoma Non Small Cell Lung	Associate	32784268
Carcinoma Renal Cell	Associate	37455213
Cerebellar Ataxia Deafness and Narcolepsy	Associate	37584462
Cognition Disorders	Associate	40025604
Colorectal Neoplasms	Associate	26222778
Congenital Abnormalities	Associate	31729143
Deafness	Associate	19353646, 37584462
Developmental Disabilities	Associate	30628890, 39972940
Endometrial Neoplasms	Associate	37612452
Endometriosis	Associate	20430378
Esophageal Squamous Cell Carcinoma	Associate	32329844
Fibrocartilaginous embolism	Associate	35094651
Fibrosis	Associate	36738110
Genetic Diseases Inborn	Associate	31729143
Glioblastoma	Associate	37968257
Hereditary leiomyomatosis and renal cell cancer	Associate	12588891
Hodgkin Disease	Associate	12588891
Hypersensitivity Delayed	Associate	40025604
Hypoxia	Stimulate	35283481
Inflammation	Associate	28542447
Intellectual Disability	Associate	24462372, 31729143
Intervertebral Disc Degeneration	Associate	35094651
Megacolon	Associate	36738110
Mental Retardation Autosomal Recessive 1	Associate	24462372
Multiple Sclerosis	Associate	30322396
Neoplasm Metastasis	Associate	32329844, 37575267
Neoplasms	Associate	29602203, 30322396, 32784268, 34738863, 35082283, 35083026, 35471456, 36457244, 37612452
Neuroblastoma	Associate	33378023
Non Muscle Invasive Bladder Neoplasms	Associate	35787635
Optic Atrophy	Associate	24462372, 31729143, 37584462
Optic Nerve Hypoplasia	Associate	24462372, 31729143, 40025604
Osteosarcoma	Associate	32945459
Pancreatic Neoplasms	Associate	35283481, 36457244
Prostatic Neoplasms	Associate	23056316
Protein S Deficiency	Associate	38052560
Psychomotor Disorders	Associate	40025604
Seminoma	Associate	31965022
Signs and Symptoms	Associate	30628890
Spasms Infantile	Associate	28654857, 35830182
Stomach Neoplasms	Associate	35082283
Thyroid Neoplasms	Associate	34408227
Triple Negative Breast Neoplasms	Associate	37306188
Urinary Bladder Neoplasms	Associate	34414701, 35090432
Uterine Cervical Neoplasms	Inhibit	36087939
Virilism	Associate	23056316
Vision Disorders	Associate	24462372, 26350515, 31729143

NR2F1 (nuclear receptor subfamily 2 group F member 1)