Estrogen Related Receptor Beta (ERRb)

ERR2; ERRb; ERRbeta; ERRbeta-2; ESRL2; NR3B2; Deafness,Autosomal Recessive 35; Estrogen receptor-like 2; Nuclear receptor subfamily 3 group B member 2

SPN	S828
HGNC	3473
MGI	1346832
RGD	1359557
UniProt	O95718

ERRbencodes a protein with sequence similarity to the estrogen receptor, a member of nuclear hormone receptor family of steroid hormone receptors. Its function is unknown; however, a similar protein in mouse plays an essential role in placental development.Sequence analysis of the ESRRB gene in the affected individuals of the original DFNB35 family and in 3 other DFNB35-linked consanguineous families from Pakistan revealed 4 missense mutations. One of the substitutions (A110V) was located in the DNA-binding domain of ESRRB, whereas the other 3 were substitutions in the ligand-binding domain. Molecular modeling of this receptor showed that the missense mutations were likely to affect the structure and stability of these domains. This was thought to be the first report of pathogenic mutations of an estrogen-related receptor gene.

Reference

"Identification of two hERR2-related novel nuclear receptors utilizing bioinformatics and inverse PCR."
Gene 228:101-109(1999) [PubMed] [Europe PMC] [Abstract]

"Identification and characterization of two novel splicing isoforms of human estrogen-related receptor beta."
J. Clin. Endocrinol. Metab. 91:569-579(2006) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and analysis of human chromosome 14."
Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Modulation of ER alpha transcriptional activity by the orphan nuclear receptor ERR beta and evidence for differential effects of long- and short-form splice variants."
Mol. Cell. Endocrinol. 314:53-61(2010) [PubMed] [Europe PMC] [Abstract]

"Peroxisome proliferator-activated receptor gamma coactivator 1 (PGC-1)- and estrogen-related receptor (ERR)-induced regulator in muscle 1 (Perm1) is a tissue-specific regulator of oxidative capacity in skeletal muscle cells."
J. Biol. Chem. 288:25207-25218(2013) [PubMed] [Europe PMC] [Abstract]

"Monomeric complex of human orphan estrogen related receptor-2 with DNA: a pseudo-dimer interface mediates extended half-site recognition."
J. Mol. Biol. 327:819-832(2003) [PubMed] [Europe PMC] [Abstract]

"Estrogen receptor related beta is expressed in human endometrium throughout the normal menstrual cycle."
Hum. Reprod. 23:2782-2790(2008) [PubMed] [Europe PMC] [Abstract]

"An acetylation switch modulates the transcriptional activity of estrogen-related receptor alpha."
Mol. Endocrinol. 24:1349-1358(2010) [PubMed] [Europe PMC] [Abstract]

"Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35."
Am. J. Hum. Genet. 82:125-138(2008) [PubMed] [Europe PMC] [Abstract]