NR2E3 Chromosome 15
Nuclear receptor subfamily 2 group E member 3
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What This Gene Does
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]
Gene Info
Gene Group
Nuclear receptor subfamily 2 group E
Locus Type
gene with protein product
Location
15q23
Ensembl
ENSG00000278570
Associated Conditions (18)
Enhanced S-cone syndrome
Retinitis pigmentosa
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 37
Goldmann-Favre syndrome
Retinal dystrophy
NR2E3-related disorder
Inborn genetic diseases
Atypical retinitis pigmentosa
Leber congenital amaurosis
Cone-rod dystrophy
Retinal disorder
Color vision defect
Horizontal nystagmus
Visual impairment
Ocular albinism
Optic atrophy
Abnormality of the eye
Key Variants
RS1012493577
Conflicting classifications of pathogenicity
Enhanced S-cone syndrome, Enhanced S-cone syndrome
Health Risk
RS112520386
Conflicting classifications of pathogenicity
Enhanced S-cone syndrome, Retinitis pigmentosa, Enhanced S-cone syndrome
Health Risk
RS11351249
Conflicting classifications of pathogenicity
Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa 37, Enhanced S-cone syndrome
Health Risk
RS1157654626
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Enhanced S-cone syndrome, Retinitis pigmentosa
Health Risk
RS1192258898
Conflicting classifications of pathogenicity
Goldmann-Favre syndrome, Retinal dystrophy, Goldmann-Favre syndrome
Health Risk
RS1259983553
Conflicting classifications of pathogenicity
Enhanced S-cone syndrome, Retinitis pigmentosa 37, Enhanced S-cone syndrome
Health Risk
RS1278137915
Conflicting classifications of pathogenicity
Retinitis pigmentosa 37, Enhanced S-cone syndrome, Retinitis pigmentosa 37
Health Risk
RS199564404
Conflicting classifications of pathogenicity
Retinitis pigmentosa 37, Enhanced S-cone syndrome, Retinal dystrophy
Health Risk
RS200102936
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Enhanced S-cone syndrome, Retinal dystrophy
Health Risk
RS2054171622
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Enhanced S-cone syndrome, Retinitis pigmentosa
Health Risk
RS2054189787
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa
Health Risk
RS2054201996
Conflicting classifications of pathogenicity
Enhanced S-cone syndrome, Enhanced S-cone syndrome
Health Risk
All Variants (164)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2543253848 | Health Risk | Pathogenic/Likely pathogenic | Enhanced S-cone syndrome, Enhanced S-cone syndrome |
| RS2543254872 | Health Risk | Pathogenic/Likely pathogenic | Enhanced S-cone syndrome, Enhanced S-cone syndrome |
| RS2543256174 | Health Risk | Pathogenic/Likely pathogenic | Enhanced S-cone syndrome, Enhanced S-cone syndrome |
| RS2723341 | Health Risk | Pathogenic/Likely pathogenic | Enhanced S-cone syndrome, Retinitis pigmentosa 37, NR2E3-related disorder |
| RS28937873 | Health Risk | Pathogenic/Likely pathogenic | Enhanced S-cone syndrome, Goldmann-Favre syndrome, NR2E3-related disorder |
| RS35004053 | Health Risk | Pathogenic/Likely pathogenic | Enhanced S-cone syndrome, NR2E3-related disorder, Retinal dystrophy |
| RS375133059 | Health Risk | Pathogenic/Likely pathogenic | Enhanced S-cone syndrome, Retinitis pigmentosa, Optic atrophy |
| RS527236086 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa 37, Enhanced S-cone syndrome |
| RS766096417 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinitis pigmentosa, Retinitis pigmentosa 37 |
| RS766232933 | Health Risk | Pathogenic/Likely pathogenic | Enhanced S-cone syndrome, Retinitis pigmentosa 37, Enhanced S-cone syndrome |
| RS772881093 | Health Risk | Pathogenic/Likely pathogenic | Abnormality of the eye, Retinal dystrophy, Enhanced S-cone syndrome |
| RS786205493 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 37, Enhanced S-cone syndrome, Retinal dystrophy |
| RS955766374 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Enhanced S-cone syndrome, Retinitis pigmentosa 37 |
| RS990307718 | Health Risk | Pathogenic/Likely pathogenic | Enhanced S-cone syndrome, Enhanced S-cone syndrome |