NR2E3 (nuclear receptor subfamily 2 group E member 3)

2012-03-01  

Identity

HGNC
NR2E3
LOCATION
15q23
LOCUSID
10002
ALIAS
ESCS,PNR,RNR,RP37,rd7

Other Information

Locus ID:

NCBI: 10002
MIM: 604485
HGNC: 7974
Ensembl: ENSG00000278570

Variants:

dbSNP: 10002
ClinVar: 10002
TCGA: ENSG00000278570
COSMIC: NR2E3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000278570ENST00000617575Q9Y5X4
ENSG00000278570ENST00000621098Q9Y5X4
ENSG00000278570ENST00000621098F1D8Q9
ENSG00000278570ENST00000621736Q8IVZ9

Expression (GTEx)

0
1
2
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Nuclear Receptor transcription pathwayREACTOMER-HSA-383280

References

Pubmed IDYearTitleCitations
386525632024NR2E3 loss disrupts photoreceptor cell maturation and fate in human organoid models of retinal development.1
386525632024NR2E3 loss disrupts photoreceptor cell maturation and fate in human organoid models of retinal development.1
375102302023Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3): Role in Retinal Development and Disease.3
376285792023Clinical and Genetic Features of NR2E3-Associated Retinopathy: A Report of Eight Families with a Longitudinal Study and Literature Review.1
375102302023Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3): Role in Retinal Development and Disease.3
376285792023Clinical and Genetic Features of NR2E3-Associated Retinopathy: A Report of Eight Families with a Longitudinal Study and Literature Review.1
330073882020Nr2e3 functional domain ablation by CRISPR-Cas9D10A identifies a new isoform and generates retinitis pigmentosa and enhanced S-cone syndrome models.6
331382392020Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients.7
330073882020Nr2e3 functional domain ablation by CRISPR-Cas9D10A identifies a new isoform and generates retinitis pigmentosa and enhanced S-cone syndrome models.6
331382392020Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients.7
303244202019Novel clinical findings in autosomal recessive NR2E3-related retinal dystrophy.8
310834812019Antisense Oligonucleotide-Based Downregulation of the G56R Pathogenic Variant Causing NR2E3-Associated Autosomal Dominant Retinitis Pigmentosa.12
303244202019Novel clinical findings in autosomal recessive NR2E3-related retinal dystrophy.8
310834812019Antisense Oligonucleotide-Based Downregulation of the G56R Pathogenic Variant Causing NR2E3-Associated Autosomal Dominant Retinitis Pigmentosa.12
275731562018A 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/js/js/template.js