Aliases for ESRRB Gene
External Ids for ESRRB Gene
Previous HGNC Symbols for ESRRB Gene
Previous GeneCards Identifiers for ESRRB Gene
This gene encodes a protein with similarity to the estrogen receptor. Its function is unknown; however, a similar protein in mouse plays an essential role in placental development. [provided by RefSeq, Jul 2008]
GeneCards Summary for ESRRB Gene
ESRRB (Estrogen Related Receptor Beta) is a Protein Coding gene. Diseases associated with ESRRB include Deafness, Autosomal Recessive 35 and Dfnb35 Nonsyndromic Hearing Loss And Deafness. Among its related pathways are Nuclear Receptor transcription pathway and Signaling pathways regulating pluripotency of stem cells. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription factor binding. An important paralog of this gene is ESRRG.
UniProtKB/Swiss-Prot for ESRRB Gene
Isoform 3: Transcription factor that binds a canonical ESRRB recognition (ERRE) sequence 5TCAAGGTCA-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. 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).
Isoform 1: Transcription factor that binds a canonical ESRRB recognition (ERRE) sequence 5TCAAGGTCA-3 localized on promoter and enhancer of targets genes regulating their expression or their transcription activity. Positively regaulate ESR1 transcriptional activity upon E2 stimulation.
Estrogen controls many cellular processes including growth, differentiation and function of the reproductive system. Estrogen is also responsible for the growth and maintenance of the skeleton and the normal function of the cardiovascular and nervous systems.