NR2E3 - nuclear receptor subfamily 2 group E member 3 Gene

Also Known as PNR; RNR; rd7; ESCS; RP37

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10002

About NR2E3

Cytogenetic location: 15q23 Genomic coordinates (GRCh38): 15:71,810,554-71,818,253 (from NCBI)

This gene has 4 transcripts (splice variants), 237 orthologues, 11 paralogues and is associated with 6 phenotypes. Low expression observed in reference dataset.

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]

NR2E3 Products (2)

mRNA Protein Name
NM_014249.4 NP_055064.1 photoreceptor-specific nuclear receptor isoform b
NM_016346.4 NP_057430.1 photoreceptor-specific nuclear receptor isoform a
Protein Preferred Names Protein Names

photoreceptor-specific nuclear receptor

  • retina-specific nuclear receptor

Related Diseases

Diseases Alias
Enhanced S-Cone Syndrome

  • Goldmann-Favre Syndrome

  • ESCS

  • Favre Hyaloideoretinal Degeneration

  • Retinoschisis With Early Hemeralopia

  • Retinoschisis With Early Nyctalopia

  • Enhanced S Cone Syndrome

  • S-Cone Syndrome, Enhanced
Retinitis Pigmentosa 37

  • RP37

  • Retinitis Pigmentosa-37

  • Retinitis Pigmentosa, Type 37
Color Blindness

  • Color Vision Defect

  • Blindness Color

  • Colour Blindness

  • Colour Vision Deficiency

  • Color Vision Deficiency

  • Color Vision Defects

  • Defective Color Vision

  • Vision Defect, Color

  • Color-Vision Disease

  • Dyschromatopsia
Ocular Albinism

  • Albinism, Ocular

  • Oa

  • Xloa

  • Albinism Ocular
Retinitis Pigmentosa

  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1
Fundus Dystrophy

  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal
Cone-Rod Dystrophy 2

  • Cone-Rod Dystrophy

  • CORD2

  • Cone-Rod Retinal Dystrophy

  • Rcrd2

  • Cone-Rod Retinal Dystrophy 2

  • Crd2

  • Cord

  • Crd

  • Retinal Cone-Rod Dystrophy

  • Cone-Rod Retinal Dystrophy-2

  • Retinal Cone-Rod Dystrophy 2

  • Tapetoretinal Degeneration

  • Cone-Rod Degeneration

  • Cone Rod Dystrophy

  • Dystrophy, Cone-Rod

  • Dystrophy, Cone-Rod, Type 2

  • Retinitis Pigmentosa

  • Retinitis Pigmentosa 2

  • Progressive Cone-Rod Dystrophy
Leber Plus Disease

  • Leber Congenital Amaurosis

  • Lca

  • Leber'S Amaurosis

  • Leber'S Disease

  • Amaurosis Congenita Of Leber

  • Amaurosis Congenita Of Leber, Type 1

  • Lhon Plus Disease

  • Congenital Absence Of The Rods And Cones

  • Congenital Retinal Blindness

  • Crb

  • Congenital Amaurosis Of Retinal Origin

  • Leber'S Congenital Amaurosis

  • Leber Congenital Amaurosis 1

  • Leber'S Congenital Tapetoretinal Degeneration

  • Leber'S Congenital Tapetoretinal Dysplasia

  • Lca1

  • Leber Congenital Amaurosis Type 1

  • Retinal Blindness, Congenital

  • Amaurosis, Leber Congenital

  • Dysgenesis Neuroepithelialis Retinae

  • Hereditary Epithelial Dysplasia Of Retina

  • Hereditary Retinal Aplasia

  • Heredoretinopathia Congenitalis

  • Leber Abiotrophy

  • Leber Congenital Tapetoretinal Degeneration

  • Lebers Congenital Amaurosis

  • Optic Atrophy, Hereditary, Leber
Retinal Degeneration

  • Degeneration Of Retina
Eye Disease

  • Eye Diseases

  • Abnormality Of The Eye

  • Toxoplasma Oculopathy
Night Blindness

  • Nyctalopia
Retinoschisis 1, X-Linked, Juvenile

  • Retinoschisis

  • X-Linked Retinoschisis

  • X-Linked Juvenile Retinoschisis

  • RS1

  • XLRS1

  • X-Linked Juvenile Retinoschisis 1

  • Xlrs

  • Retinoschisis, X-Linked

  • Rs

  • Congenital X-Linked Retinoschisis

  • Degenerative Retinoschisis

  • Juvenile Retinoschisis

  • Xjr

  • Retinoschisis Juvenile X-Linked 1

  • Retinoschisis, Juvenile, X-Linked

  • Retinoschisis, Degenerative
Achromatopsia

  • Achm

  • Rod Monochromatism

  • Total Color Blindness

  • Rod Monochromacy

  • Monochromatism

  • Achromatism

  • Complete Or Incomplete Color Blindness

  • Pingelapese Blindness

  • Achromatopsia 1

  • Achromatopsia 2

  • Achromatopsia 3
Vitreoretinal Dystrophy

  • Vitreoretinal Dystrophies
Macular Dystrophy, Dominant Cystoid

  • Cystoid Macular Edema

  • DCMD

  • Cystoid Macular Dystrophy

  • Macular Edema, Cystoid

  • Autosomal Dominant Cystoid Macular Edema

  • Cymd

  • Mddc

  • Familial Macular Edema

  • Macular Edema

  • Macular Retinal Edema
Toxic Maculopathy

  • Toxic Maculopathy Of Retina
Retinal Cone Dystrophy 3b

  • RCD3B

  • Cone Dystrophy With Supernormal Rod Response

  • Cone Dystrophy With Supernormal Rod Electroretinogram

  • Cone Dystrophy With Supernormal Rod Responses

  • Cdsrr

  • Cone Dystrophy With Night Blindness And Supernormal Rod Responses, Kcnv2-Related

  • Cone Dystrophy With Night Blindness And Supernormal Rod Responses Kcnv2 Related

  • Cone Dystrophy With Supernormal Rod Erg

  • Cone Dystrophy With Supernormal Scotopic Electroretinogram

  • Cone Dystrophy Retinal 3b

  • Cone Dystrophy With Night Blindness And Supernormal Rod Responses Kcnv2-Related

  • Doid:0081022

  • Dystrophy, Retinal Cone, Type 3b
Accommodative Esotropia

  • Esotropia With Accommodative Compensation
Acquired Color Blindness

  • Acquired Color Vision Deficiencies

  • Acquired Color Vision Deficiency

  • Acquired Colour Blindness

  • Acquired Colour Vision Deficiencies

  • Acquired Colour Vision Deficiency
Intellectual Developmental Disorder, Autosomal Dominant 46

  • MRD46

  • Mental Retardation, Autosomal Dominant 46

  • Autosomal Dominant Mental Retardation 46

  • Autosomal Dominant Intellectual Developmental Disorder 46

  • Mental Retardation, Autosomal Dominant, Type 46
Retinitis Pigmentosa 1

  • RP1

  • Retinitis Pigmentosa-1

  • Retinitis Pigmentosa, Type 1
Vitreous Syneresis

  • Vitreous Degeneration
Pigmented Paravenous Chorioretinal Atrophy

  • Pigmented Paravenous Retinochoroidal Atrophy

  • PPCRA

  • Pprca

  • Atrophy, Chorioretinal, Pigmented Paravenous
Achromatopsia 2

  • ACHM2

  • Rod Monochromatism 2

  • Rod Monochromacy 2

  • Rmch2

  • Colorblindness, Total

  • Complete Achromatopsia

  • Total Colorblindness

  • Achromatopsia-2

  • Achromatopsia, Type 2

  • Color Blindness

  • Achromatopsia
Acquired Night Blindness
Eye Degenerative Disease
Macular Degeneration, Age-Related, 1

  • Macular Degeneration

  • Age-Related Macular Degeneration

  • Macular Degeneration, Age-Related

  • Age Related Macular Degeneration

  • Age Related Macular Degeneration 1

  • ARMD1

  • Senile Macular Degeneration

  • Maculopathy, Age-Related, 1

  • Macular Degeneration, Age-Related, Reduced Risk Of

  • Age Related Maculopathy 1

  • Age Related Maculopathies

  • Age Related Maculopathy

  • Senile Macular Retinal Degeneration

  • Macular Degeneration Of Retina

  • Age-Related Maculopathy

  • Amd

  • Armd

  • Age-Related Maculopathy, Susceptibility To

  • Maculopathy Age-Related

  • Macular Degeneration, Age-Related, 1, Susceptibility To

  • Maculopathy, Age-Related

  • Macular Degeneration, Age-Related, Type 1

  • Macular Degeneration, Age-Related, 2
Prolonged Electroretinal Response Suppression

  • Bradyopsia

  • PERRS
Late-Onset Retinal Degeneration

  • LORD

  • Retinal Degeneration, Late-Onset, Autosomal Dominant

  • Autosomal Dominant Late-Onset Retinal Degeneration

  • Pigmentary Retinopathy

  • Retinal Degeneration, Late-Onset

  • Retinitis Pigmentosa
Preretinal Fibrosis

  • Cellophane Maculopathy

  • Macular Puckering Of Retina

  • Macular Retinal Puckering

  • Epiretinal Membrane
Choroidal Dystrophy, Central Areolar, 1

  • Choroidal Sclerosis

  • Choroidal Dystrophy

  • Choroidal Dystrophy, Central Areolar

  • Cacd

  • Central Areolar Choroidal Dystrophy

  • CACD1

  • Choroidal Dystrophy, Central Areolar 1

  • Choroidal Dystrophy Central Areolar

  • Central Areolar Choroidal Sclerosis

  • Choroidal Degenerations

  • Areolar Atrophy Of The Macula

  • Partial Central Choroid Dystrophy

  • Degenerative Choroidopathy

  • Chorioretinal Degeneration

  • Hereditary Chorioretinal Degeneration

  • Hereditary Degeneration Of Choroid

  • Hereditary Choroidal Dystrophies

  • Generalised Choroidal Dystrophy

  • Hereditary Choroidopathy
Macular Retinal Edema

  • Macular Edema

  • Macular Oedema

  • Macular Retinal Oedema

  • Macular Edema, Cystoid
Congenital Stationary Night Blindness

  • Night Blindness, Congenital Stationary

  • Congenital Essential Nyctalopia

  • Oguchi Disease

  • Blindness, Night, Stationary, Congenital
Fundus Albipunctatus

  • Retinitis Punctata Albescens

  • Pigmentary Retinal Dystrophy

  • RPA

  • Albipunctate Retinal Dystrophy

  • Lauber'S Disease

  • FALBI

  • Fa
Stargardt Disease

  • Stargardt Disease 1

  • Stargardt Macular Dystrophy

  • Stargardt Disease-1

  • Juvenile Onset Macular Degeneration

  • Stargardt Macular Degeneration

  • Juvenile Macular Degeneration

  • Macular Dystrophy With Flecks, Type 1

  • Stgd

  • Fundus Flavimaculatus

  • Stargardt 1

  • Stargardts Disease
Cone Dystrophy

  • Retinal Cone Dystrophy

  • Dystrophy, Cone

  • Cone Dystrophy 3
Exudative Vitreoretinopathy

  • Familial Exudative Vitreoretinopathy

  • Fevr

  • Criswick-Schepens Syndrome

  • Exudative Vitreoretinopathy, Familial

  • Vitreoretinopathy, Exudative )

  • Exudative Vitreoretinopathy 1
Vitelliform Macular Dystrophy

  • Best Disease

  • Juvenile-Onset Vitelliform Macular Dystrophy

  • Macular Dystrophy, Vitelliform

  • Best Macular Dystrophy

  • Vitelliform Dystrophy
Retinal Disease

  • Retinal Diseases

  • Retinal Disorder

  • Retinal Disorders
Usher Syndrome Type 2

  • Ush2

  • Usher Syndrome Type Ii
Usher Syndrome

  • Deafness-Retinitis Pigmentosa Syndrome

  • Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

  • Graefe-Usher Syndrome

  • Hallgren Syndrome

  • Usher'S Syndrome

  • Retinitis Pigmentosa-Deafness Syndrome

  • Retinitis Pigmentosa-Hearing Loss Syndrome

  • Ush

  • Usher Syndromes
Nanophthalmos

  • Nanophthalmia
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-161115 NR2E3 agonist 1 Agonist 99.48% Unkown
HY-RS09540 NR2E3 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus NR2E3 VGNC VGNC:68551
Rattus norvegicus NR2E3 RGD RGD:2318602
Bos taurus NR2E3 VGNC VGNC:32239
Macaca mulatta NR2E3 VGNC VGNC:75511
Mus musculus NR2E3 MGD MGI:1346317
Others NR2E3 NCBI