| Type | Description |
|---|---|
| Definition | nuclear receptor subfamily 2 group E member 3 |
| Date | Results | Publications |
|---|---|---|
| 2020-02-15 10:16:00 | Authors overexpressed wild type (WT) or mutant NR2E3 in RPE-1 cells, followed by AON treatment. Transcript and protein levels of WT and mutant NR2E3 were detected by reverse transcription quantitative polymerase chain reaction (RT-qPCR) and Western blot respectively. | 31083481 |
| 2019-05-25 12:08:00 | our work revealed the novel role of NR2E3 as a positive upstream transcriptional regulator of AHR. Loss of NR2E3 caused repression of AHR by epigenetic reprogramming, which altered the active H3K4me2 status by modulating LSD1 distribution and activity. | 28878246 |
| 2019-03-23 11:34:00 | Murine proof-of-concept studies suggest that clinical trials of patients with NR2E3 mutations may be forthcoming. Patterns of S-cone hyperfunction across the field would serve as a means to categorize patients as entry criteria or cohort selection in clinical trials. | 29971438 |
| 2019-02-02 10:33:00 | Macular involvement was detectable in all the patients, and the abnormal foveal avascular zone (FAZ) supports the role of NR2E3 in retinal development. | 30324420 |
| 2018-11-03 10:55:00 | A diagnosis of autosomal recessive retinitis pigmentosa (ARRP) with cystic maculopathy, caused by compound heterozygous mutation in the gene NR2E3, was made. | 29193891 |
| Type | IDs |
|---|---|
| Synonymous | ESCS, PNR, RNR, RP37, rd7 |
| Gene |
UniProtKB-ID:
NR2E3_HUMAN,
F1D8Q9_HUMAN
UniprotKB:
Q9Y5X4,
F1D8Q9
UniParc:
UPI0000044C9B,
UPI000002AF8B
EMBL:
HQ692847,
AB307710,
CH471082,
AJ276674,
AF148128,
AF121129
Ensembl:
ENSG00000278570
KO:
hsa:10002
|
| Nucleutide sequences |
EMBL-CDS:
AAD28301.1,
BAH02301.1,
EAW77876.1,
AAF22227.1,
CAB82769.1,
ADZ17358.1,
EAW77877.1
Gene_ORFName:
hCG_38793
Ensembl_TRS:
ENST00000621098,
ENST00000617575
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000482504,
ENSP00000479962
RefSeq:
NP_057430.1,
NP_055064.1
|
| Others |
UniRef100:
UniRef100_Q9Y5X4
UniRef90:
UniRef90_Q9Y5X4
UniRef50:
UniRef50_Q9Y5X4
UniGene:
Hs.187354,
Hs.636007
CCDS:
CCDS73751.1,
CCDS73750.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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