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MGP003112

UniProt Annotations

Entry Information
Gene Namenuclear receptor subfamily 2, group F, member 2
Protein EntryCOT2_HUMAN
UniProt IDP24468
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=P24468-1; Sequence=Displayed; Name=2; IsoId=P24468-2; Sequence=VSP_042630; Name=3; IsoId=P24468-3; Sequence=VSP_043897;
DiseaseCongenital 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 mutations affecting the gene represented in this entry.
FunctionLigand-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. {ECO:0000269|PubMed:18798693, ECO:0000269|PubMed:1899293, ECO:0000269|PubMed:9343308}.
SimilarityBelongs to the nuclear hormone receptor family. NR2 subfamily. {ECO:0000305}.
SimilarityContains 1 nuclear receptor DNA-binding domain. {ECO:0000255|PROSITE-ProRule:PRU00407}.
Subcellular LocationNucleus.
SubunitInteracts with SQSTM1 (By similarity). Binds DNA as a dimer; homodimer or heterodimer with NR2F6. Interacts with NCOA1, NCOA2, NCOA3 and PPARGC1A. Interacts with ZFPM2 (By similarity). {ECO:0000250}.
Tissue SpecificityUbiquitous.
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