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FLASH GENE
Symbol ESRRB contributors: mct - updated : 14-09-2013
HGNC name estrogen-related receptor beta
HGNC id 3473
Corresponding disease
DFNB35 neurosensory deafness 35
Location 14q24.3      Physical location : 76.837.689 - 76.968.178
Synonym name nuclear receptor ERRB2
Synonym symbol(s) ERRB, NR3B2, ERR2, ERRb, ERRbeta, ERRbeta-2, ESRL2, DFNB35
DNA
TYPE functioning gene
STRUCTURE 130.49 kb     12 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
Physical map
FOS 14q24.3 v-fos FBJ murine osteosarcoma viral oncogene homolog LOC341912 14q24.2 similar to developmental pluripotency associated 5; embryonal stem cell specific gene 1 JDP2 14q24.3 jun dimerization protein 2 BATF 14q24 basic leucine zipper transcription factor, ATF-like C14orf58 14q24.2 chromosome 14 open reading frame 58 RPS24P2 14 ribosomal protein S24 pseudogene 2 C14orf1 14q24.3 chromosome 14 open reading frame 1 KIAA0998 14q24.3 chromosome 14 open reading frame 1 TGFB3 14q24.3 transforming growth factor, beta 3 MGC16028 14q24.3 MGC16028 similar to RIKEN cDNA 1700019E19 gene C14orf118 14q22.1-q24.3 chromosome 14 open reading frame 118 ESRRB 14q24.3 estrogen-related receptor beta CYCSP1 14q24.3 cytochrome c, somatic pseudogene 1 LAMR1P3 14 laminin receptor 1 pseudogene 3 LOC388000 14 LOC388000 KIAA1036 14q24.3 LOC388000 KIAA0759 14q24.3 LOC388000 LOC145497 14q24.3 hypothetical protein LOC145497 RPL22P2 14 ribosomal protein L22 pseudogene 2 RPLP1P1 14q23 ribosomal protein, large, P1 pseudogene 1 C14orf4 14q24.3 chromosome 14 open reading frame 4 KIAA1737 14q24.3 KIAA1737 C14orf59 14 chromosome 14 open reading frame 59 C14orf171 14q24.3 chromosome 14 open reading frame 171 NGB 14q24 neuroglobin POMT2 14q24.3 protein-O-mannosyltransferase 2 GSTZ1 14q24.3 glutathione transferase zeta 1 (maleylacetoacetate isomerase) LOC283578 14q24.3 hypothetical protein LOC283578 LOC161394 14q24.3 hypothetical protein LOC161394 LOC122945 14q24.3 hypothetical protein FLJ32809 C14orf133 14q24.3-q31 chromosome 14 open reading frame 133
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- - 1430 - 433 testis, kidney 2006 16332939
lacks an F domain
- - 1610 - 508 testis, kidney 2006 16332939
11 - 3029 - 508 - 2006 16332939
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Hearing/Equilibriumearinnercochlea  
Nervousnervecranial nerve   
Visualeye    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
Text during inner-ear development
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N terminal modulator domain
  • a central bipartite zinc finger DNA binding domain
  • a nuclear localization signal (NLS)
  • a C terminal ligand binding domain, including a transactivation and dimerization domain
  • HOMOLOGY
    Homologene
    FAMILY
  • steroid/thyroid hormone receptor superfamily
  • nuclear-hormone-receptor family of transcription factors
  • CATEGORY receptor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • estrogen-related receptor B, repressing glucocorticoid receptor activity in a cell specific fashion
  • playing an essential role for inner-ear development and function
  • may potentially mediate reprogramming through the upregulation of ES-cell-specific genes
  • necessary and sufficient to mediate self-renewal downstream of GSK3B inhibition
  • key role for ESRRB in regulating the naive pluripotent state
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling hormonal
    estrogen
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ESRRB coordinates with NANOG and POU5F1 to activate the internal machinery of ES cells
  • NCOA3 interacts with ESRRB via its ligand-binding domain and bridges ESRRBb to RNA polymerase II complexes
  • NANOG binds directly to ESRRB, enhances binding of RNAPolII, and stimulates ESRRBb transcription
  • TFE3 directly integrates into the pluripotency circuitry through transcriptional regulation of ESRRB
  • NR0B1-interacting protein (interaction mediated through LXXLL motifs of NR0B1 and the activation- and ligand-binding domains of ESRRB)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNB35
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS