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

Summary

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

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_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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).
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.
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.
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.
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.
Estrogen-related receptors: novel potential regulators of osteoarthritis pathogenesis.
Title: Estrogen-related receptors: novel potential regulators of osteoarthritis pathogenesis.
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.
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.
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.
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 EBI GWAS CatalogPubMed
Genome-wide association study identifies three novel genetic markers associated with elite endurance performance. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:489767

D14S53 (e-PCR), detects polymorphism
- UniSTS:22575

NoName (e-PCR)
- UniSTS:481072

G35549 (e-PCR)
- UniSTS:33348

G35572 (e-PCR)
- UniSTS:66122

SHGC-145134 (e-PCR)
- UniSTS:174411

NoName (e-PCR)
- UniSTS:482413

RH78883 (e-PCR)
- UniSTS:64127

Esrrb (e-PCR), detects polymorphism
- UniSTS:305548

G35837 (e-PCR)
- UniSTS:61586

G35885 (e-PCR)
- UniSTS:58787

G36305 (e-PCR)
- UniSTS:33221

G17789 (e-PCR)
- UniSTS:44490

STS-AA016239 (e-PCR)
- UniSTS:45287

RH121513 (e-PCR)
- UniSTS:134639

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 nuclear receptor-mediated steroid hormone signaling pathway	IBA Inferred from Biological aspect of Ancestor 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

NG_012278.3 RefSeqGene

Range

70362..196062

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

76310777..76501837

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_060938.1 Alternate T2T-CHM13v2.0

Range

70444839..70711195

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

E7EWD9
XM_054375565.1 → XP_054231540.1 steroid hormone receptor ERR2 isoform X3
XM_054375563.1 → XP_054231538.1 steroid hormone receptor ERR2 isoform X1
XM_054375566.1 → XP_054231541.1 steroid hormone receptor ERR2 isoform X4
XM_054375567.1 → XP_054231542.1 steroid hormone receptor ERR2 isoform X5
XM_054375564.1 → XP_054231539.1 steroid hormone receptor ERR2 isoform X2