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Aliases for ESRRB Gene

Aliases for ESRRB Gene

  • Estrogen Related Receptor Beta 2 3 5
  • Nuclear Receptor Subfamily 3 Group B Member 2 3 4
  • Estrogen Receptor-Like 2 3 4
  • ERR Beta-2 3 4
  • ERR-Beta 3 4
  • ESRL2 3 4
  • NR3B2 3 4
  • Estrogen-Related Nuclear Receptor Beta 3
  • Deafness, Autosomal Recessive 35 2
  • Estrogen-Related Receptor Beta 4
  • Steroid Hormone Receptor ERR2 3
  • Orphan Nuclear Receptor 3
  • Nuclear Receptor ERRB2 3
  • ERRbeta-2 3
  • DFNB35 3
  • ERRB2 4
  • ERR2 3
  • ERRb 3

External Ids for ESRRB Gene

Previous HGNC Symbols for ESRRB Gene

  • ESRL2
  • DFNB35

Previous GeneCards Identifiers for ESRRB Gene

  • GC14P074343
  • GC14P070654
  • GC14P074827
  • GC14P075907
  • GC14P076837
  • GC14P057006

Summaries for ESRRB Gene

Entrez Gene Summary for ESRRB Gene

  • 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]

GeneCards Summary for ESRRB Gene

ESRRB (Estrogen Related Receptor Beta) is a Protein Coding gene. Diseases associated with ESRRB include Deafness, Autosomal Recessive 35 and Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb. Among its related pathways are Gene Expression and Signaling pathways regulating pluripotency of stem cells. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and transcription factor binding. An important paralog of this gene is ESRRG.

UniProtKB/Swiss-Prot for ESRRB Gene

  • Isoform 3: Transcription factor that binds a canonical ESRRB recognition (ERRE) sequence 5TCAAGGTCA-3 localized on promoter and enhancer of targets genes regulating their expression or their transcription activity (PubMed:17920186, PubMed:19755138). Plays a role, in a LIF-independent manner, in maintainance of self-renewal and pluripotency of embryonic and trophoblast stem cells through different signaling pathways including FGF signaling pathway and Wnt signaling pathways. Upon FGF signaling pathway activation, interacts with KDM1A by directly binding to enhancer site of ELF5 and EOMES and activating their transcription leading to self-renewal of trophoblast stem cells. Also regulates expression of multiple rod-specific genes and is required for survival of this cell type (By similarity). Plays a role as transcription factor activator of GATA6, NR0B1, POU5F1 and PERM1 (PubMed:23836911). Plays a role as transcription factor repressor of NFE2L2 transcriptional activity and ESR1 transcriptional activity (PubMed:17920186, PubMed:19755138). During mitosis remains bound to a subset of interphase target genes, including pluripotency regulators, through the canonical ESRRB recognition (ERRE) sequence, leading to their transcriptional activation in early G1 phase. Can coassemble on structured DNA elements with other transcription factors like SOX2, POU5F1, KDM1A and NCOA3 to trigger ESRRB-dependent gene activation. This mechanism, in the case of SOX2 corecruitment prevents the embryonic stem cells (ESCs) to epiblast stem cells (EpiSC) transition through positive regulation of NR0B1 that inhibits the EpiSC transcriptional program. Also plays a role inner ear development by controlling expression of ion channels and transporters and in early placentation (By similarity).

  • Isoform 1: Transcription factor that binds a canonical ESRRB recognition (ERRE) sequence 5TCAAGGTCA-3 localized on promoter and enhancer of targets genes regulating their expression or their transcription activity. Positively regaulate ESR1 transcriptional activity upon E2 stimulation.

Tocris Summary for ESRRB Gene

  • Estrogen controls many cellular processes including growth, differentiation and function of the reproductive system. Estrogen is also responsible for the growth and maintenance of the skeleton and the normal function of the cardiovascular and nervous systems.

Gene Wiki entry for ESRRB Gene

Additional gene information for ESRRB Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ESRRB Gene

Genomics for ESRRB Gene

GeneHancer (GH) Regulatory Elements for ESRRB Gene

Promoters and enhancers for ESRRB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J076375 Promoter/Enhancer 1.2 EPDnew ENCODE 650.2 +65.4 65361 0.2 BACH1 MZF1 SIN3A HIC1 ZNF335 ZFHX2 GLIS2 ZNF366 PATZ1 ZFP91 ESRRB GC14M076354 GC14P076416
GH14J076310 Enhancer 0.6 Ensembl ENCODE 664.8 +0.6 567 1 ZIC2 PRDM1 EZH2 ESRRB ENSG00000258402 GC14P076305 GC14P076344
GH14J076311 Enhancer 0.4 ENCODE 650.7 -0.2 -219 0.2 CTCF EZH2 ESRRB ENSG00000258402 GC14P076305
GH14J076312 Enhancer 0.3 ENCODE 650.7 -0.4 -439 0.2 CTCF ENSG00000258402 ESRRB GC14P076305
GH14J076151 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 9.2 -158.3 -158315 2.4 SMAD1 SIN3A FEZF1 DMAP1 YBX1 POLR2B FOS KLF13 SP3 SP5 GPATCH2L ENSG00000283629 RPL22P2 LINC02288 IRF2BPL LINC02289 ESRRB ENSG00000258454
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ESRRB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ESRRB gene promoter:
  • STAT3
  • AP-1
  • c-Fos
  • c-Jun
  • FosB
  • Fra-1
  • JunB
  • JunD
  • Pax-5
  • c-Rel

Genomic Locations for ESRRB Gene

Genomic Locations for ESRRB Gene
chr14:76,310,712-76,501,839
(GRCh38/hg38)
Size:
191,128 bases
Orientation:
Plus strand
chr14:76,776,957-76,968,180
(GRCh37/hg19)
Size:
191,224 bases
Orientation:
Plus strand

Genomic View for ESRRB Gene

Genes around ESRRB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ESRRB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ESRRB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ESRRB Gene

Proteins for ESRRB Gene

  • Protein details for ESRRB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95718-ERR2_HUMAN
    Recommended name:
    Steroid hormone receptor ERR2
    Protein Accession:
    O95718
    Secondary Accessions:
    • A2VDJ2
    • B6ZGU4
    • Q5F0P7
    • Q5F0P8
    • Q9HCB4

    Protein attributes for ESRRB Gene

    Size:
    433 amino acids
    Molecular mass:
    48054 Da
    Quaternary structure:
    • Binds DNA as a monomer (PubMed:12654265). Interacts with NR0B1; represses ESRRB activity at the GATA6 promoter. Interacts with NANOG; reciprocally modulates their transcriptional activities and activates POU5F1 expression. Interacts with NCOA3; mediates the interaction between ESRRB and RNA polymerase II complexes and allows NCOA3 corecruitment to ESRRB, KLF4, NANOG, and SOX2 enhancer regions to trigger ESRRB-dependent gene activation involved in self-renewal and pluripotency. Interacts with KDM1A; co-occupes the core set of ESRRB targets including ELF5 and EOMES. Interacts with the multiprotein complex Integrator, at least composed of INTS1, INTS2, INTS3, INTS4, INTS5, INTS6, INTS7, INTS8, INTS9/RC74, INTS10, INTS11/CPSF3L and INTS12; ESRRB is probably not a core component of the integrator complex and associates to integrator via its interaction with INTS1 and INTS9; attracts the transcriptional machinery. Interacts with JARID2. Interacts with POU5F1; recruits ESRRB near the POU5F1-SOX2 element in the NANOG proximal promoter leading to activation of NANOG expression; the intercaction is DNA independent (By similarity). Interacts with NFE2L2; represses NFE2L2 transcriptional activity (PubMed:17920186). Isoform 1 interacts with ESR1 (PubMed:19755138).

    Three dimensional structures from OCA and Proteopedia for ESRRB Gene

    Alternative splice isoforms for ESRRB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ESRRB Gene

Post-translational modifications for ESRRB Gene

Antibody Products

  • R&D Systems Antibodies for ESRRB (ERR beta/NR3B2)
  • Boster Bio Antibodies for ESRRB

No data available for DME Specific Peptides for ESRRB Gene

Domains & Families for ESRRB Gene

Gene Families for ESRRB Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Nuclear receptors
  • Predicted intracellular proteins
  • Transcription factors

Graphical View of Domain Structure for InterPro Entry

O95718

UniProtKB/Swiss-Prot:

ERR2_HUMAN :
  • Belongs to the nuclear hormone receptor family. NR3 subfamily.
Family:
  • Belongs to the nuclear hormone receptor family. NR3 subfamily.
genes like me logo Genes that share domains with ESRRB: view

Function for ESRRB Gene

Molecular function for ESRRB Gene

UniProtKB/Swiss-Prot Function:
Isoform 3: Transcription factor that binds a canonical ESRRB recognition (ERRE) sequence 5TCAAGGTCA-3 localized on promoter and enhancer of targets genes regulating their expression or their transcription activity (PubMed:17920186, PubMed:19755138). Plays a role, in a LIF-independent manner, in maintainance of self-renewal and pluripotency of embryonic and trophoblast stem cells through different signaling pathways including FGF signaling pathway and Wnt signaling pathways. Upon FGF signaling pathway activation, interacts with KDM1A by directly binding to enhancer site of ELF5 and EOMES and activating their transcription leading to self-renewal of trophoblast stem cells. Also regulates expression of multiple rod-specific genes and is required for survival of this cell type (By similarity). Plays a role as transcription factor activator of GATA6, NR0B1, POU5F1 and PERM1 (PubMed:23836911). Plays a role as transcription factor repressor of NFE2L2 transcriptional activity and ESR1 transcriptional activity (PubMed:17920186, PubMed:19755138). During mitosis remains bound to a subset of interphase target genes, including pluripotency regulators, through the canonical ESRRB recognition (ERRE) sequence, leading to their transcriptional activation in early G1 phase. Can coassemble on structured DNA elements with other transcription factors like SOX2, POU5F1, KDM1A and NCOA3 to trigger ESRRB-dependent gene activation. This mechanism, in the case of SOX2 corecruitment prevents the embryonic stem cells (ESCs) to epiblast stem cells (EpiSC) transition through positive regulation of NR0B1 that inhibits the EpiSC transcriptional program. Also plays a role inner ear development by controlling expression of ion channels and transporters and in early placentation (By similarity).
UniProtKB/Swiss-Prot Function:
Isoform 1: Transcription factor that binds a canonical ESRRB recognition (ERRE) sequence 5TCAAGGTCA-3 localized on promoter and enhancer of targets genes regulating their expression or their transcription activity. Positively regaulate ESR1 transcriptional activity upon E2 stimulation.
GENATLAS Biochemistry:
estrogen-related receptor B,widely expressed,orphan receptor family,steroid/thyroid hormone receptor superfamily,repressing glucocorticoid receptor activity in a cell specific fashion

Phenotypes From GWAS Catalog for ESRRB Gene

Gene Ontology (GO) - Molecular Function for ESRRB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding ISS --
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS 19274049
GO:0000993 RNA polymerase II core binding ISS --
GO:0001047 core promoter binding ISS --
GO:0001158 enhancer sequence-specific DNA binding ISS --
genes like me logo Genes that share ontologies with ESRRB: view
genes like me logo Genes that share phenotypes with ESRRB: view

Human Phenotype Ontology for ESRRB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ESRRB Gene

MGI Knock Outs for ESRRB:

Animal Model Products

Targeted motifs for ESRRB Gene
HOMER Transcription Factor Regulatory Elements motif ESRRB
  • Consensus sequence: GTGACCTTGA Submotif: canonical Cell Type: mES GEO ID: GSE11431

Clone Products

  • Addgene plasmids for ESRRB

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for ESRRB Gene

Localization for ESRRB Gene

Subcellular locations from UniProtKB/Swiss-Prot for ESRRB Gene

Nucleus. Cytoplasm. Chromosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ESRRB gene
Compartment Confidence
nucleus 5
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ESRRB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000793 condensed chromosome ISS --
GO:0005634 nucleus ISS --
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
GO:0005737 cytoplasm ISS --
genes like me logo Genes that share ontologies with ESRRB: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ESRRB Gene

Pathways & Interactions for ESRRB Gene

genes like me logo Genes that share pathways with ESRRB: view

Pathways by source for ESRRB Gene

SIGNOR curated interactions for ESRRB Gene

Inactivates:

Gene Ontology (GO) - Biological Process for ESRRB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001892 NOT embryonic placenta development NAS 19196830
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IDA 23836911
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0017145 stem cell division ISS --
genes like me logo Genes that share ontologies with ESRRB: view

Drugs & Compounds for ESRRB Gene

(46) Drugs for ESRRB Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Diethylstilbestrol Approved, Investigational Pharma Antagonist, Agonist, agonist, Target 5
Estradiol Approved, Investigational, Vet_approved Pharma Sex hormone 1400
flavone Approved, Experimental Pharma Antagonist, Target, agonist 0
Estradiol cypionate Approved, Investigational, Vet_approved Pharma 0
Estriol Approved, Investigational, Vet_approved Pharma Agonist 0

(23) Additional Compounds for ESRRB Gene - From: IUPHAR, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5,7-dihydroxy-4-methoxyisoflavone
Agonist
7,4-dihydroxyisoflavone
Agonist, Activator
AC 186
1421854-16-1
beta-Estradiol
50-28-2
ICI 182,780
129453-61-8

(5) Tocris Compounds for ESRRB Gene

Compound Action Cas Number
AC 186 Potent and selective ERbeta agonist; neuroprotective 1421854-16-1
beta-Estradiol Endogenous ER agonist 50-28-2
ICI 182,780 Estrogen receptor antagonist 129453-61-8
PPT Subtype-selective ERalpha agonist 263717-53-9
Tamoxifen citrate Estrogen receptor partial agonist/antagonist 54965-24-1
genes like me logo Genes that share compounds with ESRRB: view

Transcripts for ESRRB Gene

mRNA/cDNA for ESRRB Gene

Unigene Clusters for ESRRB Gene

Estrogen-related receptor beta:
Representative Sequences:

Clone Products

  • Addgene plasmids for ESRRB

Alternative Splicing Database (ASD) splice patterns (SP) for ESRRB Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b
SP1: -
SP2: - -
SP3:

Relevant External Links for ESRRB Gene

GeneLoc Exon Structure for
ESRRB
ECgene alternative splicing isoforms for
ESRRB

Expression for ESRRB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ESRRB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ESRRB Gene

This gene is overexpressed in Kidney - Cortex (x11.8), Stomach (x7.9), Heart - Left Ventricle (x6.2), and Muscle - Skeletal (x5.9).

Protein differential expression in normal tissues from HIPED for ESRRB Gene

This gene is overexpressed in Liver, secretome (49.9), Liver (10.5), and Gallbladder (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ESRRB Gene



Protein tissue co-expression partners for ESRRB Gene

NURSA nuclear receptor signaling pathways regulating expression of ESRRB Gene:

ESRRB

SOURCE GeneReport for Unigene cluster for ESRRB Gene:

Hs.435845

Evidence on tissue expression from TISSUES for ESRRB Gene

  • Heart(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ESRRB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • middle ear
  • outer ear
  • skull
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with ESRRB: view

No data available for mRNA Expression by UniProt/SwissProt for ESRRB Gene

Orthologs for ESRRB Gene

This gene was present in the common ancestor of animals.

Orthologs for ESRRB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ESRRB 34 33
  • 99.15 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ESRRB 34 33
  • 93.69 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ESRRB 34 33
  • 93.46 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Esrrb 33
  • 90.53 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ESRRB 34
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Esrrb 16 34 33
  • 88.76 (n)
oppossum
(Monodelphis domestica)
Mammalia ESRRB 34
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves ESRRB 34 33
  • 83.45 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ESRRB 34
  • 91 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii esrrb 34
  • 71 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ERR 34 35
  • 37 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 47 (a)
OneToMany
Species where no ortholog for ESRRB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ESRRB Gene

ENSEMBL:
Gene Tree for ESRRB (if available)
TreeFam:
Gene Tree for ESRRB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ESRRB: view image

Paralogs for ESRRB Gene

Paralogs for ESRRB Gene

(36) SIMAP similar genes for ESRRB Gene using alignment to 2 proteins:

  • ERR2_HUMAN
  • E7EWD9_HUMAN
genes like me logo Genes that share paralogs with ESRRB: view

Variants for ESRRB Gene

Sequence variations from dbSNP and Humsavar for ESRRB Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1060499794 pathogenic, Deafness, autosomal recessive 35 76,482,046(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs111446027 uncertain-significance, Nonsyndromic Hearing Loss, Recessive 76,371,349(+) G/A/T 5_prime_UTR_variant, genic_upstream_transcript_variant
rs121909110 pathogenic, Deafness, autosomal recessive 35, Deafness, autosomal recessive, 35 (DFNB35) [MIM:608565] 76,439,682(+) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs121909111 pathogenic, Deafness, autosomal recessive 35, Deafness, autosomal recessive, 35 (DFNB35) [MIM:608565] 76,491,683(+) G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs143251786 uncertain-significance, Nonsyndromic Hearing Loss, Recessive 76,371,426(+) C/A 5_prime_UTR_variant, genic_upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ESRRB Gene

Variant ID Type Subtype PubMed ID
dgv1942n100 CNV gain 25217958
esv2668696 CNV deletion 23128226
esv2748886 CNV deletion 23290073
esv32586 CNV loss 17666407
esv3551787 CNV deletion 23714750
esv3634982 CNV loss 21293372
nsv1039241 CNV gain 25217958
nsv1108912 CNV deletion 24896259
nsv1116035 CNV deletion 24896259
nsv1138319 CNV deletion 24896259
nsv1138320 CNV deletion 24896259
nsv1143613 CNV deletion 24896259
nsv507762 OTHER sequence alteration 20534489
nsv565206 CNV gain 21841781

Variation tolerance for ESRRB Gene

Residual Variation Intolerance Score: 58.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.18; 69.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ESRRB Gene

Human Gene Mutation Database (HGMD)
ESRRB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ESRRB

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ESRRB Gene

Disorders for ESRRB Gene

MalaCards: The human disease database

(4) MalaCards diseases for ESRRB Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ESRRB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ERR2_HUMAN
  • Deafness, autosomal recessive, 35 (DFNB35) [MIM:608565]: A form of non-syndromic deafness characterized by non-progressive, prelingual hearing loss. {ECO:0000269 PubMed:18179891}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ESRRB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ESRRB: view

No data available for Genatlas for ESRRB Gene

Publications for ESRRB Gene

  1. Modulation of ER alpha transcriptional activity by the orphan nuclear receptor ERR beta and evidence for differential effects of long- and short-form splice variants. (PMID: 19755138) Bombail V … Saunders PT (Molecular and cellular endocrinology 2010) 3 4 22 58
  2. Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35. (PMID: 18179891) Collin RW … Kremer H (American journal of human genetics 2008) 2 3 4 58
  3. Estrogen receptor related beta is expressed in human endometrium throughout the normal menstrual cycle. (PMID: 18775884) Bombail V … Saunders PT (Human reproduction (Oxford, England) 2008) 3 4 22 58
  4. ERRbeta: a potent inhibitor of Nrf2 transcriptional activity. (PMID: 17920186) Zhou W … Lubahn DB (Molecular and cellular endocrinology 2007) 3 4 22 58
  5. Identification and characterization of two novel splicing isoforms of human estrogen-related receptor beta. (PMID: 16332939) Zhou W … Lubahn DB (The Journal of clinical endocrinology and metabolism 2006) 3 4 22 58

Products for ESRRB Gene

  • Addgene plasmids for ESRRB

Sources for ESRRB Gene

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