NR2F2 nuclear receptor subfamily 2 group F member 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NR2F2provided by HGNC
Official Full Name: nuclear receptor subfamily 2 group F member 2provided by HGNC
Primary source: HGNC:HGNC:7976
See related: Ensembl:ENSG00000185551 MIM:107773; AllianceGenome:HGNC:7976
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ARP1; ARP-1; CHTD4; NF-E3; SRXX5; SVP40; COUPTF2; COUPTFB; TFCOUP2; COUPTFII
Summary: This gene encodes a member of the steroid thyroid hormone superfamily of nuclear receptors. The encoded protein is a ligand inducible transcription factor that is involved in the regulation of many different genes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
Expression: Broad expression in ovary (RPKM 74.0), endometrium (RPKM 37.8) and 20 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 15q26.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (96326046..96340263)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (94090629..94104848)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (96869275..96883492)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

An epigenetic switch controls an alternative NR2F2 isoform that unleashes a metastatic program in melanoma.
Title: An epigenetic switch controls an alternative NR2F2 isoform that unleashes a metastatic program in melanoma.
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.
Title: Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.
Inflammation and DKK1-induced AKT activation contribute to endothelial dysfunction following NR2F2 loss.
Title: Inflammation and DKK1-induced AKT activation contribute to endothelial dysfunction following NR2F2 loss.
The nuclear receptors SF1 and COUP-TFII cooperate on the Insl3 promoter in Leydig cells.
Title: The nuclear receptors SF1 and COUP-TFII cooperate on the Insl3 promoter in Leydig cells.
Abnormal hsa_circ_0003948 expression affects chronic periodontitis development by regulating miR-144-3p/NR2F2/PTEN signaling.
Title: Abnormal hsa_circ_0003948 expression affects chronic periodontitis development by regulating miR-144-3p/NR2F2/PTEN signaling.
Expanding the clinical spectrum of pathogenic variation in NR2F2: Asplenia.
Title: Expanding the clinical spectrum of pathogenic variation in NR2F2: Asplenia.
Exome sequencing of fetuses with congenital diaphragmatic hernia supports a causal role for NR2F2, PTPN11, and WT1 variants.
Title: Exome sequencing of fetuses with congenital diaphragmatic hernia supports a causal role for NR2F2, PTPN11, and WT1 variants.
Decidual NR2F2-Expressing CD4(+) T Cells Promote TH2 Transcriptional Program During Early Pregnancy.
Title: Decidual NR2F2-Expressing CD4(+) T Cells Promote TH2 Transcriptional Program During Early Pregnancy.
YAP1 overexpression contributes to the development of enzalutamide resistance by induction of cancer stemness and lipid metabolism in prostate cancer.
Title: YAP1 overexpression contributes to the development of enzalutamide resistance by induction of cancer stemness and lipid metabolism in prostate cancer.
The Coup-TFII orphan nuclear receptor is an activator of the gamma-globin gene.
Title: The Coup-TFII orphan nuclear receptor is an activator of the γ-globin gene.

Submit: New GeneRIF Correction See all GeneRIFs (93)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
46,xx sex reversal 5 MedGen: C5394441 OMIM: 618901 GeneReviews: Not available	Compare labs
Congenital heart defects, multiple types, 4 MedGen: C4014310 OMIM: 615779 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2012-07-10) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2012-07-10) ClinGen Genome Curation Page

EBI GWAS Catalog

Description
A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide SNP associations with rubella-specific cytokine responses in measles-mumps-rubella vaccine recipients. EBI GWAS Catalog EBI GWAS CatalogPubMed
Investigation of single nucleotide polymorphisms and biological pathways associated with response to TNF&#x003b1; inhibitors in patients with rheumatoid arthritis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH45711 (e-PCR)
- UniSTS:6930

STS-T94368 (e-PCR)
- UniSTS:49965

NR2F2_2074 (e-PCR)
- UniSTS:280878

NR2F1 (e-PCR)
- UniSTS:504944

WI-22254 (e-PCR)
- UniSTS:21379

D1Bda25 (e-PCR)
- UniSTS:239772

Nr2f2 (e-PCR), detects polymorphism
- UniSTS:186525

D7S2770 (e-PCR)
- UniSTS:17115

Nr2f2 (e-PCR), detects polymorphism
- UniSTS:507101

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables nuclear receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables nuclear receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables retinoic acid binding	IBA Inferred from Biological aspect of Ancestor more info
enables retinoic acid binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in anatomical structure development	IBA Inferred from Biological aspect of Ancestor more info
involved_in anterior/posterior pattern specification	IEA Inferred from Electronic Annotation more info
involved_in blood vessel morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in female gonad development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fertilization	IEA Inferred from Electronic Annotation more info
involved_in forebrain development	IEA Inferred from Electronic Annotation more info
involved_in interneuron migration	IEA Inferred from Electronic Annotation more info
involved_in intracellular receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in lymphatic endothelial cell fate commitment	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in maternal placenta development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cyclin-dependent protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of endothelial cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of endothelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in placenta blood vessel development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of systemic arterial blood pressure	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in radial pattern formation	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	TAS Traceable Author Statement more info	PubMed
involved_in response to estradiol	IEA Inferred from Electronic Annotation more info
involved_in skeletal muscle tissue development	IEA Inferred from Electronic Annotation more info
involved_in trophoblast giant cell differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: COUP transcription factor 2

Names: ADP-ribosylation factor related protein 1; COUP transcription factor II; apolipoprotein A-I regulatory protein 1; apolipoprotein AI regulatory protein 1; chicken ovalbumin upstream promoter transcription factor 2; chicken ovalbumin upstream promoter-transcription factor I

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016753.1 RefSeqGene

Range

9773..19331

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001145155.2 → NP_001138627.1 COUP transcription factor 2 isoform b

See identical proteins and their annotated locations for NP_001138627.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform a.

Source sequence(s)

AC016251, BC106083

Consensus CDS

CCDS45358.1

UniProtKB/Swiss-Prot

P24468

Related

ENSP00000401674.2, ENST00000421109.6

Conserved Domains (1) summary

cd06948
Location:44 → 278

NR_LBD_COUP-TF; Ligand binding domain of chicken ovalbumin upstream promoter transcription factors, a member of the nuclear receptor family
NM_001145156.1 → NP_001138628.1 COUP transcription factor 2 isoform c

See identical proteins and their annotated locations for NP_001138628.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3 and 4 both encode isoform c.

Source sequence(s)

AC016251, AK316086

Consensus CDS

CCDS45359.1

UniProtKB/Swiss-Prot

P24468

Related

ENSP00000377726.2, ENST00000394171.6

Conserved Domains (1) summary

cd06948
Location:24 → 258

NR_LBD_COUP-TF; Ligand binding domain of chicken ovalbumin upstream promoter transcription factors, a member of the nuclear receptor family
NM_001145157.2 → NP_001138629.1 COUP transcription factor 2 isoform c

See identical proteins and their annotated locations for NP_001138629.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3 and 4 both encode isoform c.

Source sequence(s)

AC016251, BC034585

Consensus CDS

CCDS45359.1

UniProtKB/Swiss-Prot

P24468

Related

ENSP00000389853.2, ENST00000453270.2

Conserved Domains (1) summary

cd06948
Location:24 → 258

NR_LBD_COUP-TF; Ligand binding domain of chicken ovalbumin upstream promoter transcription factors, a member of the nuclear receptor family
NM_021005.4 → NP_066285.1 COUP transcription factor 2 isoform a

See identical proteins and their annotated locations for NP_066285.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AC016251, BC042897

Consensus CDS

CCDS10375.1

UniProtKB/Swiss-Prot

B4DQJ2, B6ZGU1, P24468, Q03754, Q3KQR7

UniProtKB/TrEMBL

F1D8R0, F1DAL8

Related

ENSP00000377721.3, ENST00000394166.8

Conserved Domains (2) summary

cd06948
Location:177 → 411

NR_LBD_COUP-TF; Ligand binding domain of chicken ovalbumin upstream promoter transcription factors, a member of the nuclear receptor family

cd06958
Location:79 → 151

NR_DBD_COUP_TF; DNA-binding domain of chicken ovalbumin upstream promoter transcription factors (COUP-TFs) is composed of two C4-type zinc fingers