NR2E3 - nuclear receptor subfamily 2 group E member 3 Gene

Homo sapiens

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

Gene ID: 10002 | Gene type: protein coding

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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-161115	NR2E3 agonist 1		99.48%	Unkown
HY-RS09540	NR2E3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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