NR2F2 |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- NR2F2 (HGNC:7976) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- nuclear receptor subfamily 2 group F member 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- ARP1, TFCOUP2
- Alias symbols
- COUP-TFII, COUPTFB, SVP40, NF-E3, COUPTF2
- %HI
- 5.61(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.2(Read more about gnomAD LOEUF score)
- Cytoband
- 15q26.2
- Genomic Coordinates
-
GRCh37/hg19: chr15:96869275-96883492 NCBI Ensembl UCSC GRCh38/hg38: chr15:96326046-96340263 NCBI Ensembl UCSC - MANE Select Transcript
- NM_021005.4 ENST00000394166.8 (Read more about MANE Select)
- Function
- Ligand-activated transcription factor. Activated by high concentrations of 9-cis-retinoic acid and all-trans-retinoic acid, but not by dexamethasone, cortisol or progesterone (in vitro). Regulation of the apolipoprotein A-I gene transcription. Binds to DNA site A. May be required to establish ovary identity during early gonad development (PubMed:29478779). {ECO:0000269|PubMed:18798693, ECO:0000269|PubMed:1899293, ECO:0000269|PubMed:29478779, ECO:0000269|PubMed:9343308}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-7687
ClinGen Curation ID:
CCID:007573
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
07/10/2012
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
HI Evidence Comments:
PMID:21172461 Nakamura et al. (2011) propose NR2F2 as a candidate gene for congenital heart defects based on a 5.8 Mb deletion detected in a patient and comparison mapping with previous reports of deletions of 15q26. All of the reported deletions contain multiple genes.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000015.9)
(NC_000015.10)