NR2E3 (Nuclear Receptor Subfamily 2 Group E Member 3)
A key transcriptional regulator in retinal photoreceptor development and maintenance; mutations cause inherited retinal dystrophies.
Gene Information Card
| Symbol | NR2E3 |
|---|---|
| Full Name | Nuclear Receptor Subfamily 2 Group E Member 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q23 |
| NCBI Gene ID | 10002 ncbi.nlm.nih.gov/gene/10002 |
| Ensembl ID | ENSG00000187123 |
| UniProt ID | Q9Y5X4 |
| OMIM ID | 604485 |
| HGNC ID | 7974 |
| Aliases | PNR, RP37, ESCS, rd7 |
Description
NR2E3 encodes a photoreceptor-specific nuclear receptor that acts as a transcription factor. It is essential for the proper development and function of rod and cone photoreceptors. NR2E3 promotes rod differentiation and suppresses cone-specific gene expression in rods. Mutations in NR2E3 are associated with inherited retinal diseases, including enhanced S-cone syndrome (ESCS), retinitis pigmentosa (RP37), and Goldmann-Favre syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Enhanced S-cone syndrome (ESCS) | Biallelic loss-of-function mutations lead to overproduction of S-cones and impaired rod function. | ClinVar, OMIM |
| Retinitis pigmentosa (RP37) | Mutations (often dominant) disrupt rod photoreceptor maintenance, leading to progressive degeneration. | ClinVar, OMIM |
| Goldmann-Favre syndrome | Biallelic mutations cause a severe form of ESCS with vitreous degeneration and retinal detachment. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | Not available (nTPM) | High expression in photoreceptor cells |
| Other tissues | Not available | Low or no expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Y79 (retinoblastoma) | Not available | Expressed; used in studies of photoreceptor differentiation |
| WERI-Rb-1 (retinoblastoma) | Not available | Expressed; similar to Y79 |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.119-2A>C | Splice site | Rare | Loss of function; associated with ESCS |
| p.R311Q | Missense | Rare | Loss of function; associated with ESCS |
| p.R334W | Missense | Rare | Dominant negative; associated with RP37 |
| p.G56R | Missense | Rare | Loss of function; associated with ESCS |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations cause enhanced S-cone syndrome (ESCS) by disrupting rod differentiation and allowing S-cone fate.
Gain of Function (GOF)
No clear gain-of-function mutations reported; some missense variants may have partial activity.
Dominant Negative (DN)
Dominant mutations (e.g., p.R334W) in RP37 act via dominant-negative effects, interfering with wild-type NR2E3 function in rods.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • Nuclear receptor activity | • Zinc ion binding |
| • Regulation of transcription by RNA polymerase II | • Photoreceptor cell differentiation |
| • Retina development |
Pathways
• Photoreceptor differentiation
• Retinoic acid receptor signaling
• Nuclear receptor transcription pathway
Protein Summary
NR2E3 is a 410-amino acid nuclear receptor with a conserved DNA-binding domain and a ligand-binding domain. It functions as a transcriptional repressor, directly binding to promoter regions of cone-specific genes (e.g., S-opsin) to silence them in rods. It also interacts with other transcription factors like CRX and NRL to regulate photoreceptor gene expression. The protein is localized to the nucleus of rod photoreceptors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NR2E3 Knockout HEK293 Cell Line | EDJ-KQ6858 | Human | 10002 | Details Get a Quote |
| NR2E3 Knockout HeLa Cell Line | EDJ-KQ55296 | Human | 10002 | Details Get a Quote |
| NR2E3 Knockout A-549 Cell Line | EDJ-KQ63777 | Human | 10002 | Details Get a Quote |
| NR2E3 Knockout HCT 116 Cell Line | EDJ-KQ72237 | Human | 10002 | Details Get a Quote |
