NR2F2

Chr 15

nuclear receptor subfamily 2 group F member 2

Also known as: ARP-1, ARP1, CHTD4, COUPTF2, COUPTFB, COUPTFII, NF-E3, SRXX5

NCBI Gene: 7026 ENSG00000185551 UniProt: P24468

This highly constrained gene encodes a ligand-activated transcription factor that regulates gene expression and is required for establishing ovary identity during early gonad development. Autosomal dominant mutations cause 46,XX sex reversal and multiple types of congenital heart defects. The gene has a GeneReviews entry available for additional clinical guidance.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCongenital heart defects, multiple types, 4

UniProt46,XX sex reversal 5

Clinical highlights

Gene-disease validity (ClinGen)

NR2F2 related multiple congenital anomalies/dysmorphic syndrome · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.22

LOEUF· LoF intol.

LOF

Mechanism· G2P

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GeneReview available — NR2F2