NR2E3
entrez
10002
canonical
uniprot
Q9Y5X4
canonical
ensembl
ENSG00000278570
resolver
ensp
ENSP00000479962
resolver
ensp
ENSP00000482504
resolver
genesymbol
NR2E3
resolver
genesymbol_syn
PNR
resolver
genesymbol_syn
RNR
resolver
hgnc
HGNC:7974
resolver
uniprot
B6ZGU0
resolver
uniprot
F1D8Q9
resolver
uniprot
Q9UHM4
resolver
uniprot_entry
F1D8Q9_HUMAN
resolver
uniprot_entry
NR2E3_HUMAN
resolver
uniprot_sec
B6ZGU0
resolver
uniprot_sec
Q9UHM4
resolver
amino_acid_sequence
METRPTALMSSTVAAAAPAAGAASRKESPGRWGLGEDPTGVSPSLQCRVCGDSSSGKHYGIYACNGCSGFFKRSVRRRLIYRCQVGAGMCPVDKAHRNQCQACRLKKCLQAGMNQDAVQNERQPRSTAQVHLDSMESNTESRPESLVAPPAPAGRSPRGPTPMSAARALGHHFMASLITAETCAKLEPEDADENIDVTSNDPEFPSSPYSSSSPCGLDSIHETSARLLFMAVKWAKNLPVFSSLPFRDQVILLEEAWSELFLLGAIQWSLPLDSCPLLAPPEASAAGGAQGRLTLASMETRVLQETISRFRALAVDPTEFACMKALVLFKPETRGLKDPEHVEALQDQSQVMLSQHSKAHHPSQPVRFGKLLLLLPSLRFITAERIELLFFRKTIGNTPMEKLLCDMFKN
uniprot
proteins
disease_involvement
DISEASE: Enhanced S-cone syndrome 1 (ESCS1) [MIM:268100]: A form of enhanced S-cone syndrome, an autosomal recessive retinopathy characterized by increased sensitivity to blue light due to an increase in the number of cone photoreceptors for short wavelength light. Affected individuals experience early-onset night blindness, visual loss, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration. {ECO:0000269|PubMed:10655056, ECO:0000269|PubMed:11071390, ECO:0000269|PubMed:12963616, ECO:0000269|PubMed:15459973, ECO:0000269|PubMed:16225923, ECO:0000269|PubMed:18294254, ECO:0000269|PubMed:19006237, ECO:0000269|PubMed:24069298}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Retinitis pigmentosa 37 (RP37) [MIM:611131]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:17564971, ECO:0000269|PubMed:18294254, ECO:0000269|PubMed:19006237}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Orphan nuclear receptor of retinal photoreceptor cells. Transcriptional factor that is an activator of rod development and repressor of cone development. Binds the promoter region of a number of rod- and cone-specific genes, including rhodopsin, M- and S-opsin and rod-specific phosphodiesterase beta subunit. Enhances rhodopsin expression. Represses M- and S-cone opsin expression. {ECO:0000269|PubMed:15689355, ECO:0000269|PubMed:24069298}.
uniprot
proteins
mass_dalton
44692
uniprot
proteins
mutagenesis
MUTAGEN 372; /note="L->R: Reduces transcription repressor activity."; /evidence="ECO:0000269|PubMed:24069298"; MUTAGEN 375; /note="L->R: Reduces transcription repressor activity."; /evidence="ECO:0000269|PubMed:24069298
uniprot
proteins
post_translational_modification
PTM: Di- and tri-sumoylated in developing retina. PIAS3-mediated sumoylation promotes repression of cone-specific gene expression and activation of rod-specific genes. Sumoylation on Lys-185 appears to be the main site (By similarity). {ECO:0000250}.
uniprot
proteins
protein_family
NR2 subfamily
uniprot
proteins
protein_family
Nuclear hormone receptor family
uniprot
proteins
pubmed
10220376
uniprot
proteins
pubmed
10611353
uniprot
proteins
pubmed
10655056
uniprot
proteins
pubmed
11071390
uniprot
proteins
pubmed
12963616
uniprot
proteins
pubmed
15459973
uniprot
proteins
pubmed
15689355
uniprot
proteins
pubmed
16225923
uniprot
proteins
pubmed
17564971
uniprot
proteins
pubmed
18294254
uniprot
proteins
pubmed
19006237
uniprot
proteins
pubmed
24069298
uniprot
proteins
sequence_length
410
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00407, ECO:0000269|PubMed:15689355}.
uniprot
proteins