NR2E3 (nuclear receptor subfamily 2 group E member 3)

2012-03-01 Affiliation

Identity

HGNC

NR2E3

LOCATION

15q23

LOCUSID

10002

ALIAS

ESCS,PNR,RNR,RP37,rd7

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000278570	ENST00000617575	Q9Y5X4
ENSG00000278570	ENST00000621098	Q9Y5X4
ENSG00000278570	ENST00000621098	F1D8Q9
ENSG00000278570	ENST00000621736	Q8IVZ9

Expression (GTEx)

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

Pathway	Source	External ID
Gene Expression	REACTOME	R-HSA-74160
Generic Transcription Pathway	REACTOME	R-HSA-212436
Nuclear Receptor transcription pathway	REACTOME	R-HSA-383280

References

Pubmed ID	Year	Title	Citations
15634773	2005	The rod photoreceptor-specific nuclear receptor Nr2e3 represses transcription of multiple cone-specific genes.	119
15190009	2004	Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors.	102
15689355	2005	The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes.	101
11487564	2001	Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice.	71
11773633	2002	The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration.	68
12963616	2003	Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration.	47
17564971	2007	Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa.	42
15459973	2004	Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.	36
17982421	2007	The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa.	29
17982421	2007	The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa.	29

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/nr2e3