Details for: NR2E3
Associated with
Other Information
Genular Protein ID: 4183579113
Symbol: NR2E3_HUMAN
Name: Photoreceptor-specific nuclear receptor
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 10220376
Title: Identification of a photoreceptor cell-specific nuclear receptor.
PubMed ID: 10220376
PubMed ID: 10611353
Title: Retina-specific nuclear receptor: a potential regulator of cellular retinaldehyde-binding protein expressed in retinal pigment epithelium and Muller glial cells.
PubMed ID: 10611353
PubMed ID: 15689355
Title: The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes.
PubMed ID: 15689355
DOI: 10.1093/hmg/ddi070
PubMed ID: 24069298
Title: The crystal structure of the orphan nuclear receptor NR2E3/PNR ligand binding domain reveals a dimeric auto-repressed conformation.
PubMed ID: 24069298
PubMed ID: 11071390
Title: The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.
PubMed ID: 11071390
PubMed ID: 10655056
Title: Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.
PubMed ID: 10655056
DOI: 10.1038/72777
PubMed ID: 12963616
Title: Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration.
PubMed ID: 12963616
PubMed ID: 15459973
Title: Mutation analysis of NR2E3 and NRL genes in enhanced S cone syndrome.
PubMed ID: 15459973
DOI: 10.1002/humu.9285
PubMed ID: 16225923
Title: Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity.
PubMed ID: 16225923
PubMed ID: 17564971
Title: Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa.
PubMed ID: 17564971
DOI: 10.1086/518426
PubMed ID: 18294254
Title: Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies.
PubMed ID: 18294254
PubMed ID: 19006237
Title: Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.
PubMed ID: 19006237
DOI: 10.1002/humu.20858
Sequence Information:
- Length: 410
- Mass: 44692
- Checksum: D49525830ED0A000
- Sequence:
METRPTALMS STVAAAAPAA GAASRKESPG RWGLGEDPTG VSPSLQCRVC GDSSSGKHYG IYACNGCSGF FKRSVRRRLI YRCQVGAGMC PVDKAHRNQC QACRLKKCLQ AGMNQDAVQN ERQPRSTAQV HLDSMESNTE SRPESLVAPP APAGRSPRGP TPMSAARALG HHFMASLITA ETCAKLEPED ADENIDVTSN DPEFPSSPYS SSSPCGLDSI HETSARLLFM AVKWAKNLPV FSSLPFRDQV ILLEEAWSEL FLLGAIQWSL PLDSCPLLAP PEASAAGGAQ GRLTLASMET RVLQETISRF RALAVDPTEF ACMKALVLFK PETRGLKDPE HVEALQDQSQ VMLSQHSKAH HPSQPVRFGK LLLLLPSLRF ITAERIELLF FRKTIGNTPM EKLLCDMFKN
Genular Protein ID: 1134739593
Symbol: F1D8Q9_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 11181995
Sequence Information:
- Length: 367
- Mass: 39638
- Checksum: F67A09D430754B3D
- Sequence:
METRPTALMS STVAAAAPAA GAASRKESPG RWGLGEDPTG VSPSLQCRVC GDSSSGKHYG IYACNGCSGF FKRSVRRRLI YRCQVGAGMC PVDKAHRNQC QACRLKKCLQ AGMNQDAVQN ERQPRSTAQV HLDSMESNTE SRPESLVAPP APAGRSPRGP TPMSAARALG HHFMASLITA ETCAKLEPED ADENIDVTSN DPEFPSSPYS SSSPCGLDSI HETSARLLFM AVKWAKNLPV FSSLPFRDQV ILLEEAWSEL FLLGAIQWSL PLDSCPLLAP PEASAAGGAQ GRLTLASMET RVLQETISRF RALAVDPTEF ACMKALVLFK PETRGLKDPE HVEALQDQSQ VMLSQHSKAH HPSQPVR
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.