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MGP000991

UniProt Annotations

Entry Information
Gene Nameestrogen-related receptor beta
Protein EntryERR2_HUMAN
UniProt IDO95718
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; Synonyms=ERRbeta2-delta10; IsoId=O95718-1; Sequence=Displayed; Name=2; IsoId=O95718-2; Sequence=VSP_042211; Name=3; Synonyms=ERRbeta-short-form; IsoId=O95718-3; Sequence=VSP_042212;
DiseaseDeafness, autosomal recessive, 35 (DFNB35) [MIM:608565]: A form of non-syndromic deafness characterized by non-progressive, prelingual hearing loss. {ECO:0000269|PubMed:18179891}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionNuclear receptor, may regulate ESR1 transcriptional activity. Induces the expression of PERM1 in the skeletal muscle. {ECO:0000269|PubMed:19755138, ECO:0000269|PubMed:23836911}.
PtmAcetylated by PCAF/KAT2 (in vitro). {ECO:0000269|PubMed:20484414}.
SimilarityBelongs to the nuclear hormone receptor family. NR3 subfamily. {ECO:0000305}.
SimilarityContains 1 nuclear receptor DNA-binding domain. {ECO:0000255|PROSITE-ProRule:PRU00407}.
Subcellular LocationNucleus {ECO:0000255|PROSITE- ProRule:PRU00407, ECO:0000269|PubMed:18775884}.
SubunitBinds DNA as a monomer. {ECO:0000269|PubMed:12654265}.
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