Gene: NR2F2

Alternate names for this Gene: ARP-1|ARP1|CHTD4|COUPTF2|COUPTFB|COUPTFII|NF-E3|SRXX5|SVP40|TFCOUP2

Gene 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.

Gene is located in Chromosome: 15

Location in Chromosome : 15q26.2

Description of this Gene: nuclear receptor subfamily 2 group F member 2

Type of Gene: protein-coding

rs201527820 in NR2F2 gene and CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 PMID 24702954 2014 Rare variants in NR2F2 cause congenital heart defects in humans.

rs1555447237 in NR2F2 gene and Dysmorphic features PMID 24702954 2014 Rare variants in NR2F2 cause congenital heart defects in humans.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 18798693 2008 Identification of COUP-TFII orphan nuclear receptor as a retinoic acid-activated receptor.

PMID 26633542 2016 Clinical application of whole-exome sequencing across clinical indications.

PMID 18371933 2008 Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort.

PMID 21172461 2011 5.78 Mb terminal deletion of chromosome 15q in a girl, evaluation of NR2F2 as candidate gene for congenital heart defects.

PMID 24702427 2015 Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia.

PMID 10215630 1999 The orphan nuclear receptor COUP-TFII is required for angiogenesis and heart development.

PMID 16251273 2005 Mouse lacking COUP-TFII as an animal model of Bochdalek-type congenital diaphragmatic hernia.

PMID 15750894 2005 Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization.

rs1555447237 in NR2F2 gene and Multiple congenital anomalies PMID 10215630 1999 The orphan nuclear receptor COUP-TFII is required for angiogenesis and heart development.

PMID 18371933 2008 Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort.

PMID 24702427 2015 Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia.

PMID 18798693 2008 Identification of COUP-TFII orphan nuclear receptor as a retinoic acid-activated receptor.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 26633542 2016 Clinical application of whole-exome sequencing across clinical indications.

PMID 21172461 2011 5.78 Mb terminal deletion of chromosome 15q in a girl, evaluation of NR2F2 as candidate gene for congenital heart defects.

PMID 24702954 2014 Rare variants in NR2F2 cause congenital heart defects in humans.

PMID 16251273 2005 Mouse lacking COUP-TFII as an animal model of Bochdalek-type congenital diaphragmatic hernia.

PMID 15750894 2005 Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization.