ESRRB


Description

The ESRRB (estrogen related receptor beta) is a protein-coding gene located on chromosome 14.

Estrogen-related receptor beta (ERR-β), also known as ESRRB or NR3B2 (nuclear receptor subfamily 3, group B, member 2), is a nuclear receptor that in humans is encoded by the ESRRB (Estrogen Related Receptor Beta) gene.

== Function == ESRRB has been shown to be vital for the transition between a naïve pluripotent and primed pluripotent state in mammalian cells, and NANOG controls the expression of ESRRB in this scenario.

== References ==

== Further reading ==

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

Isoform 3 acts as a transcription factor that binds to a specific DNA sequence (ERRE) found in the promoter and enhancer regions of target genes. This binding regulates the expression of these genes. Isoform 3 is involved in maintaining the self-renewal and pluripotency of embryonic and trophoblast stem cells. It does this by interacting with various signaling pathways, including the FGF signaling pathway and the Wnt signaling pathway. When the FGF signaling pathway is activated, isoform 3 interacts with KDM1A, binding to specific enhancer sites of ELF5 and EOMES genes, activating their transcription. This process contributes to the self-renewal of trophoblast stem cells. Isoform 3 also plays a role in regulating the expression of multiple genes specific to rod cells and is essential for the survival of these cell types. Additionally, it acts as a transcription factor activator for genes such as GATA6, NR0B1, POU5F1, and PERM1. Conversely, it functions as a repressor of NFE2L2 and ESR1 transcriptional activity. During mitosis, isoform 3 remains bound to a subset of interphase target genes, including those involved in pluripotency, through the ERRE sequence, leading to their transcriptional activation in early G1 phase. Isoform 3 can cooperate with other transcription factors like SOX2, POU5F1, KDM1A, and NCOA3 to activate genes dependent on ESRRB. This collaboration, particularly with SOX2, prevents the transition of embryonic stem cells (ESCs) to epiblast stem cells (EpiSC) by positively regulating NR0B1, which inhibits the EpiSC transcriptional program. Isoform 3 also plays a role in inner ear development by controlling the expression of ion channels and transporters and in early placentation.

ESRRB is also known as DFNB35, ERR beta-2, ERR2, ERRb, ERRbeta2, ESRL2, NR3B2.

Associated Diseases


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