AlphaFold predicted structure
ESRRB · O95718

Mean pLDDT
77.9/ 100
Confident
433 residues
Confidence breakdown
- Very high(≥ 90)61%
- Confident(70–90)9%
- Low(50–70)4%
- Very low(< 50)27%
AlphaFold (Jumper et al., 2021) · CC BY 4.0
estrogen related receptor beta
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalhearing loss, autosomal recessive
deafness
Rare genetic deafness
hearing loss disorder
Non-syndromic genetic deafness
nonsyndromic genetic hearing loss
inflammation of heart layer
cervical carcinoma
Hearing impairment
liver disorder
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Steroid hormone receptor ERR2
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)
Curated MONDO disease pages that list ESRRB among their top associated genes.
ESRRB · O95718

Mean pLDDT
77.9/ 100
Confident
433 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0