NR2E3 Chromosome 15

Nuclear receptor subfamily 2 group E member 3
164 variants 164 Health Risk

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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
RS1012493577 Health Risk Conflicting classifications of pathogenicity Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS112520386 Health Risk Conflicting classifications of pathogenicity Enhanced S-cone syndrome, Retinitis pigmentosa, Enhanced S-cone syndrome
RS11351249 Health Risk Conflicting classifications of pathogenicity Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa 37, Enhanced S-cone syndrome
RS1157654626 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Enhanced S-cone syndrome, Retinitis pigmentosa
RS1192258898 Health Risk Conflicting classifications of pathogenicity Goldmann-Favre syndrome, Retinal dystrophy, Goldmann-Favre syndrome
RS1259983553 Health Risk Conflicting classifications of pathogenicity Enhanced S-cone syndrome, Retinitis pigmentosa 37, Enhanced S-cone syndrome
RS1278137915 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 37, Enhanced S-cone syndrome, Retinitis pigmentosa 37
RS199564404 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 37, Enhanced S-cone syndrome, Retinal dystrophy
RS200102936 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Enhanced S-cone syndrome, Retinal dystrophy
RS2054171622 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Enhanced S-cone syndrome, Retinitis pigmentosa
RS2054189787 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa
RS2054201996 Health Risk Conflicting classifications of pathogenicity Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS2140294904 Health Risk Conflicting classifications of pathogenicity Enhanced S-cone syndrome, Retinal dystrophy, Enhanced S-cone syndrome
RS2140294988 Health Risk Conflicting classifications of pathogenicity —
RS2543257393 Health Risk Conflicting classifications of pathogenicity Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS371853056 Health Risk Conflicting classifications of pathogenicity Enhanced S-cone syndrome, Retinitis pigmentosa, Inborn genetic diseases
RS372609616 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Enhanced S-cone syndrome, Retinal dystrophy
RS373874970 Health Risk Conflicting classifications of pathogenicity Enhanced S-cone syndrome, Retinitis pigmentosa, Enhanced S-cone syndrome
RS374499278 Health Risk Conflicting classifications of pathogenicity Enhanced S-cone syndrome, Retinitis pigmentosa, Enhanced S-cone syndrome
RS376114936 Health Risk Conflicting classifications of pathogenicity Enhanced S-cone syndrome, Retinitis pigmentosa, Enhanced S-cone syndrome
RS377257254 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 37, Goldmann-Favre syndrome
RS533192044 Health Risk Conflicting classifications of pathogenicity Enhanced S-cone syndrome, Retinitis pigmentosa, Enhanced S-cone syndrome
RS534156309 Health Risk Conflicting classifications of pathogenicity Goldmann-Favre syndrome, Inborn genetic diseases, Retinal dystrophy
RS534483995 Health Risk Conflicting classifications of pathogenicity Goldmann-Favre syndrome, Inborn genetic diseases, Goldmann-Favre syndrome
RS538864090 Health Risk Conflicting classifications of pathogenicity Enhanced S-cone syndrome, Retinitis pigmentosa, Goldmann-Favre syndrome
RS544807110 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 37, Enhanced S-cone syndrome, Retinal dystrophy
RS555211505 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 37, Enhanced S-cone syndrome, Goldmann-Favre syndrome
RS555860015 Health Risk Conflicting classifications of pathogenicity Enhanced S-cone syndrome, Retinitis pigmentosa, Goldmann-Favre syndrome
RS558123422 Health Risk Conflicting classifications of pathogenicity Enhanced S-cone syndrome, Retinitis pigmentosa 37, Retinitis pigmentosa
RS750284532 Health Risk Conflicting classifications of pathogenicity —
RS752883545 Health Risk Conflicting classifications of pathogenicity Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS756678889 Health Risk Conflicting classifications of pathogenicity Enhanced S-cone syndrome, Retinal dystrophy, Retinitis pigmentosa 37
RS763706390 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 37, Enhanced S-cone syndrome, Retinitis pigmentosa 37
RS763764130 Health Risk Conflicting classifications of pathogenicity Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS766769900 Health Risk Conflicting classifications of pathogenicity —
RS767442358 Health Risk Conflicting classifications of pathogenicity Enhanced S-cone syndrome, Retinal dystrophy, Enhanced S-cone syndrome
RS767828150 Health Risk Conflicting classifications of pathogenicity Enhanced S-cone syndrome, Retinitis pigmentosa, Retinal dystrophy
RS770937516 Health Risk Conflicting classifications of pathogenicity Atypical retinitis pigmentosa, Atypical retinitis pigmentosa
RS775720634 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Enhanced S-cone syndrome, Retinal dystrophy
RS776270511 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Enhanced S-cone syndrome, Retinitis pigmentosa 37
RS779903522 Health Risk Conflicting classifications of pathogenicity Goldmann-Favre syndrome, Enhanced S-cone syndrome, Retinitis pigmentosa 37
RS900547 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 37, Retinitis pigmentosa, Enhanced S-cone syndrome
RS948094961 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1039909828 Health Risk Likely pathogenic —
RS1246315416 Health Risk Likely pathogenic Enhanced S-cone syndrome, Retinitis pigmentosa 37, Enhanced S-cone syndrome
RS1418275818 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1477087145 Health Risk Likely pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS1488679790 Health Risk Likely pathogenic —
RS1567160201 Health Risk Likely pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS1595956455 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
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