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ESRRB estrogen related receptor beta [ Homo sapiens (human) ]

Gene ID: 2103, updated on 14-Nov-2024

Summary

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Official Symbol
ESRRBprovided by HGNC
Official Full Name
estrogen related receptor betaprovided by HGNC
Primary source
HGNC:HGNC:3473
See related
Ensembl:ENSG00000119715 MIM:602167; AllianceGenome:HGNC:3473
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ERR2; ERRb; ESRL2; NR3B2; DFNB35; ERRbeta2; ERR beta-2
Summary
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]
Expression
Biased expression in kidney (RPKM 4.2), heart (RPKM 1.8) and 2 other tissues See more
Orthologs
mouse all
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Genomic context

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See ESRRB in Genome Data Viewer
Location:
14q24.3
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (76310777..76501837)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (70444839..70711195)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (76777120..76968180)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene intraflagellar transport 43 Neighboring gene uncharacterized LOC105370573 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr14:76550227-76551213 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:76578893-76579424 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:76581183-76581684 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:76582665-76583491 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:76597945-76598444 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:76604854-76605582 Neighboring gene G-patch domain containing 2 like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8766 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8767 Neighboring gene uncharacterized LOC105370575 Neighboring gene Sharpr-MPRA regulatory region 6100 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:76770917-76771070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:76776165-76776778 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:76795770-76796291 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:76796292-76796814 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:76796815-76797335 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:76800829-76801328 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:76807160-76807660 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:76807661-76808161 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8768 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:76852844-76853344 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5956 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8769 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8770 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:76952887-76953387 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:76966323-76966862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:77012337-77012836 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:77017186-77017698 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:77017699-77018211 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:77018212-77018723 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:77031271-77031770 Neighboring gene Sharpr-MPRA regulatory region 14992 Neighboring gene uncharacterized LOC105370576 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:77078938-77079518 Neighboring gene MPRA-validated peak2203 silencer Neighboring gene CYCS pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Expression profiling of nuclear receptors in human and mouse embryonic stem cells. Xie CQ, et al. Mol Endocrinol, 2009 May. PMID 19196830, Free PMC Article
  2. A polymorphism in human estrogen-related receptor beta (ESRRβ) predicts audiometric temporary threshold shift. Bhatt I, et al. Int J Audiol, 2016 Oct. PMID 27399974, Free PMC Article
  3. Messenger RNA profile analysis deciphers new Esrrb responsive genes in prostate cancer cells. Lu Y, et al. BMC Mol Biol, 2015 Dec 1. PMID 26627478, Free PMC Article
  4. ESRRB polymorphisms are associated with comorbidity of temporomandibular disorders and rotator cuff disease. Bonato LL, et al. Int J Oral Maxillofac Surg, 2016 Mar. PMID 26584852
  5. Estrogen-related Receptor β Reduces the Subnuclear Mobility of Estrogen Receptor α and Suppresses Estrogen-dependent Cellular Function. Tanida T, et al. J Biol Chem, 2015 May 8. PMID 25805499, Free PMC Article

See all (68) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Functional pathogenicity of ESRRB variant of uncertain significance contributes to hearing loss (DFNB35).
    Title: Functional pathogenicity of ESRRB variant of uncertain significance contributes to hearing loss (DFNB35).
  2. SIRT1 mediates breast cancer development and tumorigenesis controlled by estrogen-related receptor beta.
    Title: SIRT1 mediates breast cancer development and tumorigenesis controlled by estrogen-related receptor β.
  3. Long Noncoding RNA ACTA2-AS1 Inhibits Cell Growth and Facilitates Apoptosis in Gastric Cancer by Binding with miR-6720-5p to Regulate ESRRB.
    Title: Long Noncoding RNA ACTA2-AS1 Inhibits Cell Growth and Facilitates Apoptosis in Gastric Cancer by Binding with miR-6720-5p to Regulate ESRRB.
  4. ESRRB Inhibits the TGFbeta Signaling Pathway to Drive Cell Proliferation in Cervical Cancer.
    Title: ESRRB Inhibits the TGFβ Signaling Pathway to Drive Cell Proliferation in Cervical Cancer.
  5. A novel missense variant in ESRRB gene causing autosomal recessive non-syndromic hearing loss: in silico analysis of a case.
    Title: A novel missense variant in ESRRB gene causing autosomal recessive non-syndromic hearing loss: in silico analysis of a case.
  6. Estrogen-related receptors: novel potential regulators of osteoarthritis pathogenesis.
    Title: Estrogen-related receptors: novel potential regulators of osteoarthritis pathogenesis.
  7. Expression of estrogen-related receptors in ovarian cancer and impact on survival.
    Title: Expression of estrogen-related receptors in ovarian cancer and impact on survival.
  8. ESRRB regulates glucocorticoid gene expression in mice and patients with acute lymphoblastic leukemia.
    Title: ESRRB regulates glucocorticoid gene expression in mice and patients with acute lymphoblastic leukemia.
  9. Structural Insights into the Specificity of Ligand Binding and Coactivator Assembly by Estrogen-Related Receptor beta.
    Title: Structural Insights into the Specificity of Ligand Binding and Coactivator Assembly by Estrogen-Related Receptor β.
  10. The orphan nuclear receptor Esrrb plays a pioneering role in recruiting the core pluripotency factors Oct4, Sox2, and Nanog to inactive enhancers in closed chromatin during the reprogramming of epiblast stem cells.
    Title: Esrrb Unlocks Silenced Enhancers for Reprogramming to Naive Pluripotency.
Submit: New GeneRIF Correction See all GeneRIFs (40)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Autosomal recessive nonsyndromic hearing loss 35
MedGen: C1837857 OMIM: 608565 GeneReviews: Genetic Hearing Loss Overview
Compare labs

EBI GWAS Catalog

Description
Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan.
EBI GWAS Catalog
Genome-wide association study identifies three novel genetic markers associated with elite endurance performance.
EBI GWAS Catalog

Variation

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See Variation Viewer (GRCh37.p13)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific ISS
Inferred from Sequence or Structural Similarity
more info
  
enables DNA-binding transcription factor activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISS
Inferred from Sequence or Structural Similarity
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables RNA polymerase II complex binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables RNA polymerase II-specific DNA-binding transcription factor binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables cis-regulatory region sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables estrogen response element binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables nuclear receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables nuclear steroid receptor activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables steroid binding IEA
Inferred from Electronic Annotation
more info
  
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in cell dedifferentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cell population proliferation IDA
Inferred from Direct Assay
more info
 PubMed 
NOT involved_in embryonic placenta development NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in inner ear development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of stem cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in photoreceptor cell maintenance ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of DNA-templated transcription ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of stem cell population maintenance ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of stem cell division ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
involved_in stem cell division ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in stem cell population maintenance IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in chromatin IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in chromatin ISA
Inferred from Sequence Alignment
more info
  
located_in condensed chromosome ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
part_of integrator complex ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
steroid hormone receptor ERR2
Names
estrogen receptor-like 2
estrogen-related nuclear receptor beta
nuclear receptor ERRB2
nuclear receptor subfamily 3 group B member 2
orphan nuclear receptor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012278.3 RefSeqGene

    Range
    70362..196062
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001379180.1 → NP_001366109.1  steroid hormone receptor ERR2 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC008050, AC016543
    Consensus CDS
    CCDS91910.1
    UniProtKB/Swiss-Prot
    A2VDJ2, B6ZGU4, O95718, Q5F0P7, Q5F0P8, Q9HCB4
    UniProtKB/TrEMBL
    A0A2R8Y491
    Related
    ENSP00000493776.1, ENST00000644823.1
    Conserved Domains (2) summary
    cd06946
    Location:233 → 452
    NR_LBD_ERR; The ligand binding domain of estrogen receptor-related nuclear receptors
    cd07170
    Location:119 → 214
    NR_DBD_ERR; DNA-binding domain of estrogen related receptors (ERR) is composed of two C4-type zinc fingers

  2. NM_001411038.1 → NP_001397967.1  steroid hormone receptor ERR2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC008050, AC016543
    Consensus CDS
    CCDS91909.1
    UniProtKB/TrEMBL
    E7EWD9
    Related
    ENSP00000424992.2, ENST00000512784.6

  3. NM_004452.4 → NP_004443.3  steroid hormone receptor ERR2 isoform 1

    See identical proteins and their annotated locations for NP_004443.3

    Status: REVIEWED

    Source sequence(s)
    AC008050, AC016543
    Consensus CDS
    CCDS9850.2
    UniProtKB/Swiss-Prot
    A2VDJ2, B6ZGU4, O95718, Q5F0P7, Q5F0P8, Q9HCB4
    Related
    ENSP00000370270.2, ENST00000380887.7
    Conserved Domains (2) summary
    cd06946
    Location:212 → 431
    NR_LBD_ERR; The ligand binding domain of estrogen receptor-related nuclear receptors
    cd07170
    Location:98 → 193
    NR_DBD_ERR; DNA-binding domain of estrogen related receptors (ERR) is composed of two C4-type zinc fingers

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    76310777..76501837
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047431079.1 → XP_047287035.1  steroid hormone receptor ERR2 isoform X2

  2. XM_011536553.3 → XP_011534855.1  steroid hormone receptor ERR2 isoform X3

    UniProtKB/Swiss-Prot
    A2VDJ2, B6ZGU4, O95718, Q5F0P7, Q5F0P8, Q9HCB4
    Conserved Domains (2) summary
    cd06946
    Location:233 → 452
    NR_LBD_ERR; The ligand binding domain of estrogen receptor-related nuclear receptors
    cd07170
    Location:119 → 214
    NR_DBD_ERR; DNA-binding domain of estrogen related receptors (ERR) is composed of two C4-type zinc fingers

  3. XM_011536547.3 → XP_011534849.1  steroid hormone receptor ERR2 isoform X1

    Conserved Domains (3) summary
    cd06946
    Location:233 → 452
    NR_LBD_ERR; The ligand binding domain of estrogen receptor-related nuclear receptors
    cd07170
    Location:119 → 214
    NR_DBD_ERR; DNA-binding domain of estrogen related receptors (ERR) is composed of two C4-type zinc fingers
    pfam15502
    Location:455 → 524
    MPLKIP; M-phase-specific PLK1-interacting protein

  4. XM_011536554.3 → XP_011534856.1  steroid hormone receptor ERR2 isoform X4

    UniProtKB/Swiss-Prot
    A2VDJ2, B6ZGU4, O95718, Q5F0P7, Q5F0P8, Q9HCB4
    Conserved Domains (3) summary
    cd06946
    Location:233 → 452
    NR_LBD_ERR; The ligand binding domain of estrogen receptor-related nuclear receptors
    cd07170
    Location:119 → 214
    NR_DBD_ERR; DNA-binding domain of estrogen related receptors (ERR) is composed of two C4-type zinc fingers
    pfam15502
    Location:455 → 522
    MPLKIP; M-phase-specific PLK1-interacting protein

  5. XM_024449508.2 → XP_024305276.1  steroid hormone receptor ERR2 isoform X5

    UniProtKB/Swiss-Prot
    A2VDJ2, B6ZGU4, O95718, Q5F0P7, Q5F0P8, Q9HCB4
    Related
    ENSP00000423004.1, ENST00000505752.6
    Conserved Domains (2) summary
    cd06946
    Location:233 → 452
    NR_LBD_ERR; The ligand binding domain of estrogen receptor-related nuclear receptors
    cd07170
    Location:119 → 214
    NR_DBD_ERR; DNA-binding domain of estrogen related receptors (ERR) is composed of two C4-type zinc fingers

  6. XM_011536550.3 → XP_011534852.1  steroid hormone receptor ERR2 isoform X2

    See identical proteins and their annotated locations for XP_011534852.1

    Conserved Domains (3) summary
    cd06946
    Location:212 → 431
    NR_LBD_ERR; The ligand binding domain of estrogen receptor-related nuclear receptors
    cd07170
    Location:98 → 193
    NR_DBD_ERR; DNA-binding domain of estrogen related receptors (ERR) is composed of two C4-type zinc fingers
    pfam15502
    Location:434 → 503
    MPLKIP; M-phase-specific PLK1-interacting protein

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    70444839..70711195
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054375568.1 → XP_054231543.1  steroid hormone receptor ERR2 isoform X6

    UniProtKB/TrEMBL
    E7EWD9

  2. XM_054375565.1 → XP_054231540.1  steroid hormone receptor ERR2 isoform X3

  3. XM_054375563.1 → XP_054231538.1  steroid hormone receptor ERR2 isoform X1

  4. XM_054375566.1 → XP_054231541.1  steroid hormone receptor ERR2 isoform X4

  5. XM_054375567.1 → XP_054231542.1  steroid hormone receptor ERR2 isoform X5

  6. XM_054375564.1 → XP_054231539.1  steroid hormone receptor ERR2 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95718.3 GenPept UniProtKB/Swiss-Prot:O95718

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