NR2F1
entrez
7025
canonical
uniprot
P10589
canonical
ensembl
ENSG00000175745
resolver
ensp
ENSP00000325819
resolver
ensp
ENSP00000514863
resolver
enst
ENST00000327111
resolver
enst
ENST00000512697
resolver
genesymbol
NR2F1
resolver
genesymbol_syn
EAR3
resolver
genesymbol_syn
ERBAL3
resolver
genesymbol_syn
TFCOUP1
resolver
hgnc
HGNC:7975
resolver
uniprot
A0A8V8TQQ6
resolver
uniprot_entry
A0A8V8TQQ6_HUMAN
resolver
uniprot_entry
COT1_HUMAN
resolver
amino_acid_sequence
MAMVVSSWRDPQDDVAGGNPGGPNPAAQAARGGGGGAGEQQQQAGSGAPHTPQTPGQPGAPATPGTAGDKGQGPPGSGQSQQHIECVVCGDKSSGKHYGQFTCEGCKSFFKRSVRRNLTYTCRANRNCPIDQHHRNQCQYCRLKKCLKVGMRREAVQRGRMPPTQPNPGQYALTNGDPLNGHCYLSGYISLLLRAEPYPTSRYGSQCMQPNNIMGIENICELAARLLFSAVEWARNIPFFPDLQITDQVSLLRLTWSELFVLNAAQCSMPLHVAPLLAAAGLHASPMSADRVVAFMDHIRIFQEQVEKLKALHVDSAEYSCLKAIVLFTSDACGLSDAAHIESLQEKSQCALEEYVRSQYPNQPSRFGKLLLRLPSLRTVSSSVIEQLFFVRLVGKTPIETLIRDMLLSGSSFNWPYMSIQCS
uniprot
proteins
disease_involvement
DISEASE: Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) [MIM:615722]: An autosomal dominant disorder characterized by optic atrophy associated with developmental delay and intellectual disability. Most patients also have evidence of cerebral visual impairment. {ECO:0000269|PubMed:24462372}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Coup (chicken ovalbumin upstream promoter) transcription factor binds to the ovalbumin promoter and, in conjunction with another protein (S300-II) stimulates initiation of transcription. Binds to both direct repeats and palindromes of the 5'-AGGTCA-3' motif. Represses transcriptional activity of LHCG. {ECO:0000269|PubMed:10644740, ECO:0000269|PubMed:11682620}.
uniprot
proteins
mass_dalton
46156
uniprot
proteins
protein_family
NR2 subfamily
uniprot
proteins
protein_family
Nuclear hormone receptor family
uniprot
proteins
pubmed
10207062
uniprot
proteins
pubmed
10644740
uniprot
proteins
pubmed
11682620
uniprot
proteins
pubmed
1517211
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
24462372
uniprot
proteins
pubmed
26138355
uniprot
proteins
pubmed
2739739
uniprot
proteins
pubmed
2905047
uniprot
proteins
sequence_length
423
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
uniprot
proteins