NR2E3 nuclear receptor subfamily 2 group E member 3
Gene ID: 10002, updated on 5-Mar-2024Gene type: protein coding
Also known as: PNR; RNR; rd7; ESCS; RP37
- See all available tests in GTR for this gene
- Go to complete Gene record for NR2E3
- Go to Variation Viewer for NR2E3 variants
Summary
This protein is part of a large family of nuclear receptor transcription factors involved in signaling pathways. Nuclear receptors have been shown to regulate pathways involved in embryonic development, as well as in maintenance of proper cell function in adults. Members of this family are characterized by discrete domains that function in DNA and ligand binding. This gene encodes a retinal nuclear receptor that is a ligand-dependent transcription factor. Defects in this gene are a cause of enhanced S cone syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Enhanced S-cone syndrome | See labs |
| Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. GeneReviews: Not available | |
| Retinitis pigmentosa 37 | See labs |
Genomic context
- Location:
- 15q23
- Sequence:
- Chromosome: 15; NC_000015.10 (71810554..71818253)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NR2E3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- NR2E3 @ LOVD
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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