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P24468 of Proteins NR C4-type domain repeats

Uniprot ID:P24468	Protein name: COUP transcription factor 2	Gene : NR2F2 ARP1 TFCOUP2
Protein Family:"Nuclear hormone receptor family, NR2 subfamily"	Squence Length : 414

Sequnce	>P24468 415 MAMVVSTWRDPQDEVPGSQGSQASQAPPVPGPPPGAPHTPQTPGQGGPASTPAQTAAGGQGGPGGPGSDKQQQQQHIECVVCGDKSSGKHYGQFTCEGCKSFFKRSVRRNLSYTCRANRNCPIDQHHRNQCQYCRLKKCLKVGMRREAVQRGRMPPTQPTHGQFALTNGDPLNCHSYLSGYISLLLRAEPYPTSRFGSQCMQPNNIMGIENICELAARMLFSAVEWARNIPFFPDLQITDQVALLRLTWSELFVLNAAQCSMPLHVAPLLAAAGLHASPMSADRVVAFMDHIRIFQEQVEKLKALHVDSAEYSCLKAIVLFTSDACGLSDVAHVESLQEKSQCALEEYVRSQYPNQPTRFGKLLLRLPSLRTVSSSVIEQLFFVRLVGKTPIETLIRDMLLSGSSFNWPYMAIQ
NR C4-type domains repeats	ZN_FING 79 99 NR C4-type ZN_FING 115 139 NR C4-type
Domin repeated regions	79 - 99 CVVCGDKSSGKHYGQFTCEGC 115 - 139 CRANRNCPIDQHHRNQCQYCRLKKC
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"
Mutation	228 228 R->E: Reduces transcription activation by 40% when associated with R-398 249 249 W->A: Reduces transcription activation by 50% when associated with A-250 250 250 S->A: Reduces transcription activation by 50% when associated with A-249 250 250 S->W: Reduces transcription activation by 50% 253 254 FV->AA: Reduces transcription activation by 50% 269 270 LL->AA: Reduces transcription activation by 50% 364 365 LL->AA: Reduces transcription activation by 80% 398 398 D->R: Reduces transcription activation by 40% when associated with E-228
Disease	"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 Note=The disease is caused by mutations affecting the gene represented in this entry"