NR2F2
entrez
7026
canonical
uniprot
P24468
canonical
ensembl
ENSG00000185551
resolver
ensp
ENSP00000377721
resolver
ensp
ENSP00000377726
resolver
ensp
ENSP00000389853
resolver
ensp
ENSP00000401674
resolver
genesymbol
NR2F2
resolver
genesymbol_syn
ARP1
resolver
genesymbol_syn
TFCOUP2
resolver
hgnc
HGNC:7976
resolver
uniprot
B4DQJ2
resolver
uniprot
B6ZGU1
resolver
uniprot
F1D8R0
resolver
uniprot
Q03754
resolver
uniprot
Q3KQR7
resolver
uniprot_entry
COT2_HUMAN
resolver
uniprot_entry
F1D8R0_HUMAN
resolver
uniprot_sec
B4DQJ2
resolver
uniprot_sec
B6ZGU1
resolver
uniprot_sec
Q03754
resolver
uniprot_sec
Q3KQR7
resolver
amino_acid_sequence
MAMVVSTWRDPQDEVPGSQGSQASQAPPVPGPPPGAPHTPQTPGQGGPASTPAQTAAGGQGGPGGPGSDKQQQQQHIECVVCGDKSSGKHYGQFTCEGCKSFFKRSVRRNLSYTCRANRNCPIDQHHRNQCQYCRLKKCLKVGMRREAVQRGRMPPTQPTHGQFALTNGDPLNCHSYLSGYISLLLRAEPYPTSRFGSQCMQPNNIMGIENICELAARMLFSAVEWARNIPFFPDLQITDQVALLRLTWSELFVLNAAQCSMPLHVAPLLAAAGLHASPMSADRVVAFMDHIRIFQEQVEKLKALHVDSAEYSCLKAIVLFTSDACGLSDVAHVESLQEKSQCALEEYVRSQYPNQPTRFGKLLLRLPSLRTVSSSVIEQLFFVRLVGKTPIETLIRDMLLSGSSFNWPYMAIQ
uniprot
proteins
disease_involvement
DISEASE: Congenital heart defects, multiple types, 4 (CHTD4) [MIM:615779]: A disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include transposition of the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, and patent ductus arteriosus. Some patients also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions. {ECO:0000269|PubMed:24702954}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 46,XX sex reversal 5 (SRXX5) [MIM:618901]: A condition in which male gonads develop in a genetic female (female to male sex reversal). Additional features in SRXX5 patients are congenital heart disease, congenital diaphragmatic hernia, and blepharophimosis-ptosis-epicanthus inversus syndrome. SRXX5 inheritance is autosomal dominant. {ECO:0000269|PubMed:29478779}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Ligand-activated transcription factor. Activated by high concentrations of 9-cis-retinoic acid and all-trans-retinoic acid, but not by dexamethasone, cortisol or progesterone (in vitro). Regulation of the apolipoprotein A-I gene transcription. Binds to DNA site A. May be required to establish ovary identity during early gonad development (PubMed:29478779). {ECO:0000269|PubMed:18798693, ECO:0000269|PubMed:1899293, ECO:0000269|PubMed:29478779, ECO:0000269|PubMed:9343308}.
uniprot
proteins
mass_dalton
45571
uniprot
proteins
mutagenesis
MUTAGEN 228; /note="R->E: Reduces transcription activation by 40%; when associated with R-398."; /evidence="ECO:0000269|PubMed:18798693"; MUTAGEN 249; /note="W->A: Reduces transcription activation by 50%; when associated with A-250."; /evidence="ECO:0000269|PubMed:18798693"; MUTAGEN 250; /note="S->A: Reduces transcription activation by 50%; when associated with A-249."; /evidence="ECO:0000269|PubMed:18798693"; MUTAGEN 250; /note="S->W: Reduces transcription activation by 50%."; /evidence="ECO:0000269|PubMed:18798693"; MUTAGEN 253..254; /note="FV->AA: Reduces transcription activation by 50%."; /evidence="ECO:0000269|PubMed:18798693"; MUTAGEN 269..270; /note="LL->AA: Reduces transcription activation by 50%."; MUTAGEN 364..365; /note="LL->AA: Reduces transcription activation by 80%."; /evidence="ECO:0000269|PubMed:18798693"; MUTAGEN 398; /note="D->R: Reduces transcription activation by 40%; when associated with E-228."; /evidence="ECO:0000269|PubMed:18798693
uniprot
proteins
protein_family
NR2 subfamily
uniprot
proteins
protein_family
Nuclear hormone receptor family
uniprot
proteins
pubmed
10318855
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
1820218
uniprot
proteins
pubmed
18619963
uniprot
proteins
pubmed
18798693
uniprot
proteins
pubmed
1899293
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24702954
uniprot
proteins
pubmed
29478779
uniprot
proteins
pubmed
9343308
uniprot
proteins
sequence_length
414
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins