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

Gene ID: 2103, updated on 13-Feb-2019

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
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
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

Genomic context

See ESRRB in Genome Data Viewer
Location:
14q24.3
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (76371347..76501839)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (76837690..76968182)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene G-patch domain containing 2 like Neighboring gene uncharacterized LOC105370575 Neighboring gene uncharacterized LOC105370576 Neighboring gene CYCS pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Deafness, autosomal recessive 35 Compare labs

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • Nuclear Receptor transcription pathway, organism-specific biosystem (from REACTOME)
    Nuclear Receptor transcription pathway, organism-specific biosystemA classic example of bifunctional transcription factors is the family of Nuclear Receptor (NR) proteins. These are DNA-binding transcription factors that bind certain hormones, vitamins, and other s...
  • Nuclear Receptors, organism-specific biosystem (from WikiPathways)
    Nuclear Receptors, organism-specific biosystemNuclear receptors are a class of proteins found within the interior of cells that are responsible for sensing the presence of steroid and thyroid hormones and certain other molecules. In response, th...
  • Signaling pathways regulating pluripotency of stem cells, organism-specific biosystem (from KEGG)
    Signaling pathways regulating pluripotency of stem cells, organism-specific biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
  • Signaling pathways regulating pluripotency of stem cells, conserved biosystem (from KEGG)
    Signaling pathways regulating pluripotency of stem cells, conserved biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
  • Wnt Signaling Pathway and Pluripotency, organism-specific biosystem (from WikiPathways)
    Wnt Signaling Pathway and Pluripotency, organism-specific biosystemThis pathway was adapted from several resources and is designed to provide a theoretical frame-work for examining Wnt signaling and interacting components in the context of embryonic stem-cell plurip...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription activator activity, RNA polymerase II-specific ISS
Inferred from Sequence or Structural Similarity
more info
 
DNA-binding transcription factor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISS
Inferred from Sequence or Structural Similarity
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific NAS
Non-traceable Author Statement
more info
PubMed 
RNA polymerase II complex binding ISS
Inferred from Sequence or Structural Similarity
more info
 
RNA polymerase II distal enhancer sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
RNA polymerase II proximal promoter sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enhancer sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
nuclear receptor activity TAS
Traceable Author Statement
more info
PubMed 
sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
steroid binding IEA
Inferred from Electronic Annotation
more info
 
steroid hormone receptor activity IEA
Inferred from Electronic Annotation
more info
 
transcription factor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell dedifferentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
NOT embryonic placenta development NAS
Non-traceable Author Statement
more info
PubMed 
inner ear development ISS
Inferred from Sequence or Structural Similarity
more info
 
intracellular receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
negative regulation of stem cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
photoreceptor cell maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of glycogen biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of glycolytic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of stem cell population maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription involved in G1/S transition of mitotic cell cycle ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription involved in G2/M transition of mitotic cell cycle ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of stem cell division ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
stem cell division ISS
Inferred from Sequence or Structural Similarity
more info
 
stem cell population maintenance IDA
Inferred from Direct Assay
more info
PubMed 
steroid hormone mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
condensed chromosome ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
colocalizes_with integrator complex ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
steroid hormone receptor ERR2
Names
ERR beta-2
ERR-beta
ERRbeta-2
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)

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_012278.2 RefSeqGene

    Range
    5001..135491
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004452.3NP_004443.3  steroid hormone receptor ERR2

    See identical proteins and their annotated locations for NP_004443.3

    Status: REVIEWED

    Source sequence(s)
    AC008050, AY451390, BC131517, BM662795, DR007211
    Consensus CDS
    CCDS9850.2
    UniProtKB/Swiss-Prot
    O95718
    Related
    ENSP00000370270.2, ENST00000380887.7
    Conserved Domains (3) summary
    cd06946
    Location:212431
    NR_LBD_ERR; The ligand binding domain of estrogen receptor-related nuclear receptors
    cd07170
    Location:98193
    NR_DBD_ERR; DNA-binding domain of estrogen related receptors (ERR) is composed of two C4-type zinc fingers
    pfam15502
    Location:434501
    MPLKIP; M-phase-specific PLK1-interacting protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

    Range
    76371347..76501839
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Related
    ENSP00000493776.1, ENST00000644823.1
    Conserved Domains (2) summary
    cd06946
    Location:233452
    NR_LBD_ERR; The ligand binding domain of estrogen receptor-related nuclear receptors
    cd07170
    Location:119214
    NR_DBD_ERR; DNA-binding domain of estrogen related receptors (ERR) is composed of two C4-type zinc fingers
  2. XM_024449508.1XP_024305276.1  steroid hormone receptor ERR2 isoform X5

    Related
    ENSP00000423004.1, ENST00000505752.6
    Conserved Domains (2) summary
    cd06946
    Location:233452
    NR_LBD_ERR; The ligand binding domain of estrogen receptor-related nuclear receptors
    cd07170
    Location:119214
    NR_DBD_ERR; DNA-binding domain of estrogen related receptors (ERR) is composed of two C4-type zinc fingers
  3. XM_011536547.2XP_011534849.1  steroid hormone receptor ERR2 isoform X1

    Conserved Domains (3) summary
    cd06946
    Location:233452
    NR_LBD_ERR; The ligand binding domain of estrogen receptor-related nuclear receptors
    cd07170
    Location:119214
    NR_DBD_ERR; DNA-binding domain of estrogen related receptors (ERR) is composed of two C4-type zinc fingers
    pfam15502
    Location:455524
    MPLKIP; M-phase-specific PLK1-interacting protein
  4. XM_011536554.2XP_011534856.1  steroid hormone receptor ERR2 isoform X4

    Conserved Domains (3) summary
    cd06946
    Location:233452
    NR_LBD_ERR; The ligand binding domain of estrogen receptor-related nuclear receptors
    cd07170
    Location:119214
    NR_DBD_ERR; DNA-binding domain of estrogen related receptors (ERR) is composed of two C4-type zinc fingers
    pfam15502
    Location:455522
    MPLKIP; M-phase-specific PLK1-interacting protein
  5. XM_011536550.2XP_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:212431
    NR_LBD_ERR; The ligand binding domain of estrogen receptor-related nuclear receptors
    cd07170
    Location:98193
    NR_DBD_ERR; DNA-binding domain of estrogen related receptors (ERR) is composed of two C4-type zinc fingers
    pfam15502
    Location:434503
    MPLKIP; M-phase-specific PLK1-interacting protein
  6. XM_024449509.1XP_024305277.1  steroid hormone receptor ERR2 isoform X6

    Related
    ENSP00000422488.1, ENST00000509242.5
  7. XM_017021085.1XP_016876574.1  steroid hormone receptor ERR2 isoform X2

    Conserved Domains (3) summary
    cd06946
    Location:212431
    NR_LBD_ERR; The ligand binding domain of estrogen receptor-related nuclear receptors
    cd07170
    Location:98193
    NR_DBD_ERR; DNA-binding domain of estrogen related receptors (ERR) is composed of two C4-type zinc fingers
    pfam15502
    Location:434503
    MPLKIP; M-phase-specific PLK1-interacting protein

RNA

  1. XR_943401.2 RNA Sequence

  2. XR_001750189.1 RNA Sequence

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