ESRRB
entrez
2103
canonical
uniprot
O95718
canonical
ensembl
ENSG00000119715
resolver
ensp
ENSP00000370270
resolver
ensp
ENSP00000423004
resolver
ensp
ENSP00000424992
resolver
ensp
ENSP00000493776
resolver
enst
ENST00000512784
resolver
enst
ENST00000644823
resolver
genesymbol
ESRRB
resolver
genesymbol_syn
ERRB2
resolver
genesymbol_syn
ESRL2
resolver
genesymbol_syn
NR3B2
resolver
hgnc
HGNC:3473
resolver
uniprot
A0A2R8Y491
resolver
uniprot
A2VDJ2
resolver
uniprot
B6ZGU4
resolver
uniprot
E7EWD9
resolver
uniprot
Q5F0P7
resolver
uniprot
Q5F0P8
resolver
uniprot
Q9HCB4
resolver
uniprot_entry
A0A2R8Y491_HUMAN
resolver
uniprot_entry
E7EWD9_HUMAN
resolver
uniprot_entry
ERR2_HUMAN
resolver
uniprot_sec
A2VDJ2
resolver
uniprot_sec
B6ZGU4
resolver
uniprot_sec
Q5F0P7
resolver
uniprot_sec
Q5F0P8
resolver
uniprot_sec
Q9HCB4
resolver
amino_acid_sequence
MSSDDRHLGSSCGSFIKTEPSSPSSGIDALSHHSPSGSSDASGGFGLALGTHANGLDSPPMFAGAGLGGTPCRKSYEDCASGIMEDSAIKCEYMLNAIPKRLCLVCGDIASGYHYGVASCEACKAFFKRTIQGNIEYSCPATNECEITKRRRKSCQACRFMKCLKVGMLKEGVRLDRVRGGRQKYKRRLDSESSPYLSLQISPPAKKPLTKIVSYLLVAEPDKLYAMPPPGMPEGDIKALTTLCDLADRELVVIIGWAKHIPGFSSLSLGDQMSLLQSAWMEILILGIVYRSLPYDDKLVYAEDYIMDEEHSRLAGLLELYRAILQLVRRYKKLKVEKEEFVTLKALALANSDSMYIEDLEAVQKLQDLLHEALQDYELSQRHEEPWRTGKLLLTLPLLRQTAAKAVQHFYSVKLQGKVPMHKLFLEMLEAKV
uniprot
proteins
disease_involvement
DISEASE: Deafness, 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 variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: [Isoform 3]: Transcription factor that binds a canonical ESRRB recognition (ERRE) sequence 5'TCAAGGTCA-3' localized on promoter and enhancer of targets genes regulating their expression or their transcription activity (PubMed:17920186, PubMed:19755138). Plays a role, in a LIF-independent manner, in maintainance of self-renewal and pluripotency of embryonic and trophoblast stem cells through different signaling pathways including FGF signaling pathway and Wnt signaling pathways. Involved in morula development (2-16 cells embryos) by acting as a regulator at the 8-cell stage (By similarity). Upon FGF signaling pathway activation, interacts with KDM1A by directly binding to enhancer site of ELF5 and EOMES and activating their transcription leading to self-renewal of trophoblast stem cells. Also regulates expression of multiple rod-specific genes and is required for survival of this cell type (By similarity). Plays a role as transcription factor activator of GATA6, NR0B1, POU5F1 and PERM1 (PubMed:23836911). Plays a role as transcription factor repressor of NFE2L2 transcriptional activity and ESR1 transcriptional activity (PubMed:17920186, PubMed:19755138). During mitosis remains bound to a subset of interphase target genes, including pluripotency regulators, through the canonical ESRRB recognition (ERRE) sequence, leading to their transcriptional activation in early G1 phase. Can coassemble on structured DNA elements with other transcription factors like SOX2, POU5F1, KDM1A and NCOA3 to trigger ESRRB-dependent gene activation. This mechanism, in the case of SOX2 corecruitment prevents the embryonic stem cells (ESCs) to epiblast stem cells (EpiSC) transition through positive regulation of NR0B1 that inhibits the EpiSC transcriptional program. Also plays a role inner ear development by controlling expression of ion channels and transporters and in early placentation (By similarity). {ECO:0000250|UniProtKB:Q61539, ECO:0000269|PubMed:17920186, ECO:0000269|PubMed:19755138, ECO:0000269|PubMed:23836911}.; FUNCTION: [Isoform 1]: Transcription factor that binds a canonical ESRRB recognition (ERRE) sequence 5'TCAAGGTCA-3' localized on promoter and enhancer of targets genes regulating their expression or their transcription activity. Positively regulates ESR1 transcriptional activity upon E2 stimulation. {ECO:0000269|PubMed:19755138}.
uniprot
proteins
mass_dalton
48054
uniprot
proteins
mutagenesis
MUTAGEN 185; /note="Y->A: 6-fold decrease in DNA-binding affinity."; /evidence="ECO:0000269|PubMed:12654265
uniprot
proteins
post_translational_modification
PTM: Acetylated by PCAF/KAT2 (in vitro). {ECO:0000269|PubMed:20484414}.
uniprot
proteins
protein_family
NR3 subfamily
uniprot
proteins
protein_family
Nuclear hormone receptor family
uniprot
proteins
pubmed
10072763
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
12654265
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16332939
uniprot
proteins
pubmed
17920186
uniprot
proteins
pubmed
18179891
uniprot
proteins
pubmed
18775884
uniprot
proteins
pubmed
19755138
uniprot
proteins
pubmed
20484414
uniprot
proteins
pubmed
23836911
uniprot
proteins
sequence_length
433
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18775884}. Cytoplasm {ECO:0000250|UniProtKB:Q61539}. Chromosome {ECO:0000250|UniProtKB:Q61539}.
uniprot
proteins