Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 10002
MIM: 604485
HGNC: 7974
Ensembl: ENSG00000278570
Variants:
dbSNP: 10002
ClinVar: 10002
TCGA: ENSG00000278570
COSMIC: NR2E3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000278570 | ENST00000617575 | Q9Y5X4 |
| ENSG00000278570 | ENST00000621098 | Q9Y5X4 |
| ENSG00000278570 | ENST00000621098 | F1D8Q9 |
| ENSG00000278570 | ENST00000621736 | Q8IVZ9 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Gene Expression | REACTOME | R-HSA-74160 |
| Generic Transcription Pathway | REACTOME | R-HSA-212436 |
| Nuclear Receptor transcription pathway | REACTOME | R-HSA-383280 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38652563 | 2024 | NR2E3 loss disrupts photoreceptor cell maturation and fate in human organoid models of retinal development. | 1 |
| 38652563 | 2024 | NR2E3 loss disrupts photoreceptor cell maturation and fate in human organoid models of retinal development. | 1 |
| 37510230 | 2023 | Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3): Role in Retinal Development and Disease. | 3 |
| 37628579 | 2023 | Clinical and Genetic Features of NR2E3-Associated Retinopathy: A Report of Eight Families with a Longitudinal Study and Literature Review. | 1 |
| 37510230 | 2023 | Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3): Role in Retinal Development and Disease. | 3 |
| 37628579 | 2023 | Clinical and Genetic Features of NR2E3-Associated Retinopathy: A Report of Eight Families with a Longitudinal Study and Literature Review. | 1 |
| 33007388 | 2020 | Nr2e3 functional domain ablation by CRISPR-Cas9D10A identifies a new isoform and generates retinitis pigmentosa and enhanced S-cone syndrome models. | 6 |
| 33138239 | 2020 | Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients. | 7 |
| 33007388 | 2020 | Nr2e3 functional domain ablation by CRISPR-Cas9D10A identifies a new isoform and generates retinitis pigmentosa and enhanced S-cone syndrome models. | 6 |
| 33138239 | 2020 | Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients. | 7 |
| 30324420 | 2019 | Novel clinical findings in autosomal recessive NR2E3-related retinal dystrophy. | 8 |
| 31083481 | 2019 | Antisense Oligonucleotide-Based Downregulation of the G56R Pathogenic Variant Causing NR2E3-Associated Autosomal Dominant Retinitis Pigmentosa. | 12 |
| 30324420 | 2019 | Novel clinical findings in autosomal recessive NR2E3-related retinal dystrophy. | 8 |
| 31083481 | 2019 | Antisense Oligonucleotide-Based Downregulation of the G56R Pathogenic Variant Causing NR2E3-Associated Autosomal Dominant Retinitis Pigmentosa. | 12 |
| 27573156 | 2018 | A new mutation in enhanced S-cone syndrome. | 3 |
Citation
Dessen P
NR2E3 (nuclear receptor subfamily 2 group E member 3)
Atlas Genet Cytogenet Oncol Haematol. 2012-03-01
Online version: http://atlasgeneticsoncology.org/gene/52606/nr2e3
