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

    Gene ID: 2103, updated on 19-Jun-2024

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See ESRRB in Genome Data Viewer
    Location:
    14q24.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (76310777..76501837)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (70444839..70711195)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (76837614..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

    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 Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 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 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
     
    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 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
    part_of chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of 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

    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)

    NEW Try the new Transcript table

    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_001379180.1NP_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: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. NM_001411038.1NP_001397967.1  steroid hormone receptor ERR2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC008050, AC016543
      Consensus CDS
      CCDS91909.1
      UniProtKB/Swiss-Prot
      A2VDJ2, B6ZGU4, O95718, Q5F0P7, Q5F0P8, Q9HCB4
      UniProtKB/TrEMBL
      E7EWD9
      Related
      ENSP00000424992.2, ENST00000512784.6
    3. NM_004452.4NP_004443.3  steroid hormone receptor ERR2 isoform 1

      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: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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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_047431079.1XP_047287035.1  steroid hormone receptor ERR2 isoform X2

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

      UniProtKB/Swiss-Prot
      A2VDJ2, B6ZGU4, O95718, Q5F0P7, Q5F0P8, Q9HCB4
      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_011536547.3XP_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_011536554.3XP_011534856.1  steroid hormone receptor ERR2 isoform X4

      UniProtKB/Swiss-Prot
      A2VDJ2, B6ZGU4, O95718, Q5F0P7, Q5F0P8, Q9HCB4
      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_024449508.2XP_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: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
    6. XM_011536550.3XP_011534852.1  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

    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_054375568.1XP_054231543.1  steroid hormone receptor ERR2 isoform X6

      UniProtKB/Swiss-Prot
      A2VDJ2, B6ZGU4, O95718, Q5F0P7, Q5F0P8, Q9HCB4
      UniProtKB/TrEMBL
      E7EWD9
    2. XM_054375565.1XP_054231540.1  steroid hormone receptor ERR2 isoform X3

      UniProtKB/Swiss-Prot
      A2VDJ2, B6ZGU4, O95718, Q5F0P7, Q5F0P8, Q9HCB4
    3. XM_054375563.1XP_054231538.1  steroid hormone receptor ERR2 isoform X1

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

      UniProtKB/Swiss-Prot
      A2VDJ2, B6ZGU4, O95718, Q5F0P7, Q5F0P8, Q9HCB4
    5. XM_054375567.1XP_054231542.1  steroid hormone receptor ERR2 isoform X5

      UniProtKB/Swiss-Prot
      A2VDJ2, B6ZGU4, O95718, Q5F0P7, Q5F0P8, Q9HCB4
    6. XM_054375564.1XP_054231539.1  steroid hormone receptor ERR2 isoform X2