NR2F1 - nuclear receptor subfamily 2 group F member 1 Gene

Also Known as EAR3; BBOAS; EAR-3; SVP44; BBSOAS; ERBAL3; COUPTF1; TFCOUP1; COUP-TFI; TCFCOUP1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 7025

About NR2F1

Cytogenetic location: 5q15 Genomic coordinates (GRCh38): 5:93,583,222-93,594,611 (from NCBI)

This gene has 7 transcripts (splice variants), 235 orthologues, 11 paralogues and is associated with 3 phenotypes. Broad expression in placenta (RPKM 21.7), ovary (RPKM 21.4) and 21 other tissues.

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). [provided by RefSeq, Apr 2014]

NR2F1 Products (2)

mRNA Protein Name
NM_001410754.1 NP_001397683.1 COUP transcription factor 1 isoform 2
NM_005654.6 NP_005645.1 COUP transcription factor 1 isoform 1
Molecular Function GO Annotation Evidence References Source
enables DNA-binding transcription factor activity IDA
IDA: Inferred from direct assay
10644740 GOA
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
10644740 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
10644740 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
1517211 GOA
enables sequence-specific DNA binding IDA
IDA: Inferred from direct assay
10644740 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
Biological Process GO Annotation Evidence References Source
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
10644740 GOA
Cellular Component GO Annotation Evidence References Source
located in nucleus IDA
IDA: Inferred from direct assay
10644740 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NR2F1 Protein Structure

zf-C4

zf-C4: Zinc finger, C4 type (two domains) (85 - 153)

Hormone_recep

Hormone_recep: Ligand-binding domain of nuclear hormone receptor (205 - 393)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 423 a.a.
Protein Preferred Names Protein Names

COUP transcription factor 1

  • COUP transcription factor I

NR2F1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P82577 COUP TF1 Antibody (YA2322) WB, IHC-P, ICC/IF, FC Human, Mouse, Rat
HY-P82577A COUP TF1 Antibody (YA2322)(PBS only) WB, IHC-P, ICC/IF, FC Human, Mouse, Rat

Related Diseases

Diseases Alias
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
  • BBSOAS

  • Optic Atrophy-Intellectual Disability Syndrome

Cerebral Visual Impairment
  • Cortical Visual Impairment

  • Central Visual Impairment

  • Visual Cortex Disorder

Adrenal Cortical Adenoma
  • Adrenocortical Adenoma

  • Adenoma Adrenocortical

Diaphragm Disease
  • Abnormality Of The Diaphragm

  • Disease Of Diaphragm

  • Diaphragmatic Disorder

  • Disorder Of Diaphragm

Diaphragmatic Hernia, Congenital
  • Congenital Diaphragmatic Hernia

  • Diaphragmatic Hernia

  • Cdh

  • Congenital Diaphragmatic Defect

  • Hernia, Diaphragmatic

  • Dih

  • Hernia, Congenital Diaphragmatic

  • Hcd

  • Diaphragmatic Defect, Congenital

  • Diaphragm, Unilateral Agenesis Of

  • Hemidiaphragm, Agenesis Of

  • Diaphragmatic Hernia 1

  • Agenesis Of Hemidiaphragm

  • Unilateral Agenesis Of Diaphragm

  • Hernia Diaphragmatic

  • Hernia Diaphragmatic Congenital

  • Hernia, Diaphragmatic, Type 1

  • Hiatus Hernia

  • Oesophageal Hiatus Hernia

  • Paraoesophageal Hernia

  • Sliding Hiatus Hernia

  • Congenital Diaphragm Hernia

  • Congenital Diaphragm Defect With Hernia

  • Gross Congenital Diaphragm Defect

Atrioventricular Septal Defect
  • AVSD

  • Atrioventricular Canal Defect

  • Avcd

  • Endocardial Cushion Defect

  • Ecd

  • Avc Defect

  • Atrioventricular Septal Defect, Susceptibility To, 1

  • Atrioventricular Septal Defect 1

  • Endocardial Cushion Defects

  • Septal Defect, Atrioventricular

  • Atrioventricular Defect With Atrial Shunting Only

  • Incomplete Atrioventricular Septal Defect With Isolated Atrial Component

  • Incomplete Atrioventricular Canal Defect With Isolated Atrial Component

  • Primum Atrial Septal Defect

  • Partial Atrioventricular Canal Defect With Isolated Atrial Component

  • Partial Atrioventricular Septal Defect, Ostium Primum Type

  • Ostium Primum Atrial Septal Defect

  • Partial Atrioventricular Canal Defect

  • Partial Atrioventricular Septal Defect

  • Atrial Septum Primum Defect

  • Atrioventricular Canal Defect With Isolated Ventricular Component

  • Atrioventricular Canal Defect With Isolated Ventricular Communication

  • Atrioventricular Septal Defect With Isolated Ventricular Component

  • Atrioventricular Septal Defect With Atrial Shunting And Restrictive Ventricular Shunting

  • Intermediate Atrioventricular Canal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valve

  • Transitional Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valves

  • Atrioventricular Canal Defect Associated With A Restrictive Ventricular Septal Defect

  • Intermediate Atrioventricular Canal Defect

  • Intermediate Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valvar Orifices

  • Intermediate Atrioventricular Septal Defect

  • Transitional Atrioventricular Canal Defect

  • Transitional Atrioventricular Septal Defect

  • Complete Atrioventricular Canal With Atrial And Ventricular Components

  • Complete Atrioventricular Canal Defect

  • Complete Atrioventricular Septal Defect

46,Xy Sex Reversal
  • Swyer Syndrome

  • Pure Gonadal Dysgenesis 46,Xy

  • Gonadal Dysgenesis, Xy Female Type

  • Gonadal Dysgenesis, 46,Xy

  • 46,Xy Cgd

  • 46,Xy Complete Gonadal Dysgenesis

  • 46,Xy Pure Gonadal Dysgenesis

  • 46 Xy Gonadal Dysgenesis

  • 46, Xy Cgd

  • 46, Xy Complete Gonadal Dysgenesis

  • 46, Xy Pure Gonadal Dysgenesis

  • Xy Pure Gonadal Dysgenesis

  • Female With 46,Xy Karyotype

  • Xy Females

Tetralogy Of Fallot
  • TOF

  • Fallot Tetralogy

  • Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle

  • Tetrad Of Fallot

  • Fallot Tetrad

  • Fallot Disease

  • Fallot Complex

  • Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy

  • Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle

  • Interventricular Septal Defect, In Tetralogy Of Fallot

  • Ventricular Septal Defect With Obstructed Right Ventricular Outflow

  • Tof - [Tetralogy Of Fallot]

  • Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]

  • Pulmonary Atresia, Ventricular Septal Defect And Mapcas

  • Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta NR2F1 VGNC VGNC:75512
Mus musculus NR2F1 MGD MGI:1352451
Rattus norvegicus NR2F1 RGD RGD:621682
Bos taurus NR2F1 VGNC VGNC:32240
Felis catus NR2F1 VGNC VGNC:102269