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Aliases for ESRRB Gene

Aliases for ESRRB Gene

  • Estrogen-Related Receptor Beta 2 3 4
  • ESRL2 3 4 6
  • 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
  • DFNB35 3 6
  • NR3B2 3 4
  • Estrogen-Related Nuclear Receptor Beta 3
  • Deafness, Autosomal Recessive 35 2
  • Steroid Hormone Receptor ERR2 3
  • Orphan Nuclear Receptor 3
  • Nuclear Receptor ERRB2 3
  • ERRbeta-2 3
  • ERRB2 4
  • ERR2 3
  • ERRb 3

External Ids for ESRRB Gene

Previous Symbols for ESRRB Gene

  • ESRL2
  • DFNB35

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 dfnb35 nonsyndromic hearing loss and deafness. Among its related pathways are Gene Expression and Gene Expression. GO annotations related to this gene include sequence-specific DNA binding and transcription coactivator activity. An important paralog of this gene is AR.

UniProtKB/Swiss-Prot for ESRRB Gene

  • Nuclear receptor, may regulate ESR1 transcriptional activity. Induces the expression of PERM1 in the skeletal muscle.

Tocris Summary for ESRRB Gene

  • Estrogen controls many cellular processes including growth, differentiation and function of the reproductive system. In females, estrogens main targets are the ovaries, uterus, vagina and mammary glands. In the male, target organs are the testes, prostate and epididymis. Estrogen is also responsible for the growth and maintenance of the skeleton and the normal functioning of the cardiovascular and nervous systems. Estrogen exerts most of its actions via estrogen receptors (ER). Estrogen receptors are ligand-activated transcription factors belonging to the nuclear hormone receptor superfamily. Today, two estrogen receptors are known, ERalpha and ERbeta. ERalpha protein is highly homologous to ERbeta protein, especially in the DNA and ligand binding domains, although divergence exists in the N-terminal transactivation domain. Both receptors interact with the same DNA response element and show a similar ligand binding profile. Upon ligand binding estrogen receptors undergo a conformational change allowing spontaneous dimerization to form either homo- or heterodimers. As a dimer, the estrogen receptor binds to the estrogen response element (ERE) in the promoter region of target genes. ERalpha and ERbeta which are present in a broad spectrum of tissues.

Gene Wiki entry for ESRRB Gene

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

Genomics for ESRRB Gene

Genomic Location for ESRRB Gene

Start:
76,310,614 bp from pter
End:
76,501,841 bp from pter
Size:
191,228 bases
Orientation:
Plus strand

Genomic View for ESRRB Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ESRRB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ESRRB Gene

Regulatory Elements 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:
    508 amino acids
    Molecular mass:
    56208 Da
    Quaternary structure:
    • Binds DNA as a monomer.

    Three dimensional structures from OCA and Proteopedia for ESRRB Gene

    Alternative splice isoforms for ESRRB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ESRRB Gene

Proteomics data for ESRRB Gene at MOPED

Post-translational modifications for ESRRB Gene

Other Protein References for ESRRB Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for ESRRB Gene

Domains for ESRRB Gene

Gene Families for ESRRB Gene

HGNC:
  • NR :Nuclear hormone receptors
IUPHAR :

UniProtKB/Swiss-Prot:

ERR2_HUMAN
Domain:
  • Contains 1 nuclear receptor DNA-binding domain.:
    • O95718
Family:
  • Belongs to the nuclear hormone receptor family. NR3 subfamily.:
    • O95718
genes like me logo Genes that share domains with ESRRB: view

Function for ESRRB Gene

Molecular function for ESRRB Gene

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
UniProtKB/Swiss-Prot Function: Nuclear receptor, may regulate ESR1 transcriptional activity. Induces the expression of PERM1 in the skeletal muscle.

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:0003700 sequence-specific DNA binding transcription factor activity --
GO:0003707 steroid hormone receptor activity IEA --
GO:0003713 transcription coactivator activity ISS --
GO:0004879 ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity TAS 9344655
genes like me logo Genes that share ontologies with ESRRB: view
genes like me logo Genes that share phenotypes with ESRRB: view

Animal Models for ESRRB Gene

MGI Knock Outs for ESRRB:

miRNA for ESRRB Gene

miRTarBase miRNAs that target ESRRB
Targeting motifs for ESRRB Gene
HOMER Transcription Factor Regulatory Elements motif ESRRB
  • Consensus sequence: GTGACCTTGA Submotif: canonical Cell Type: mES GeoId: GSE11431

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

Localization for ESRRB Gene

Subcellular locations from UniProtKB/Swiss-Prot for ESRRB Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ESRRB Gene COMPARTMENTS Subcellular localization image for ESRRB gene
Compartment Confidence
nucleus 4

Gene Ontology (GO) - Cellular Components for ESRRB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with ESRRB: view

Pathways for ESRRB Gene

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

Pathways by source for ESRRB Gene

Gene Ontology (GO) - Biological Process for ESRRB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development --
GO:0001831 trophectodermal cellular morphogenesis IEA --
GO:0001834 trophectodermal cell proliferation IEA --
GO:0001892 NOT embryonic placenta development NAS 19196830
GO:0006351 transcription, DNA-templated --
genes like me logo Genes that share ontologies with ESRRB: view

Compounds for ESRRB Gene

(5) Tocris Compounds for ESRRB Gene

Compound Action Cas Number
(Z)-4-Hydroxytamoxifen Metabolite of tamoxifen (Cat. No. 0999) [68047-06-3]
DPN Highly potent ERbeta agonist [1428-67-7]
ICI 182,780 Estrogen receptor antagonist [129453-61-8]
PHTPP Selective ERbeta antagonist [805239-56-9]
PPT Subtype-selective ERalpha agonist [263717-53-9]

(5) IUPHAR Ligand for ESRRB Gene

Ligand Type Action Affinity Pubmed IDs
DY131 Agonist Agonist 6.2
diethylstilbestrol Antagonist Antagonist 5.3
genistein Activator None
7,4-dihydroxyisoflavone Activator None
5,7-dihydroxy-4-methoxyisoflavone Agonist Agonist

(39) Novoseek inferred chemical compound relationships for ESRRB Gene

Compound -log(P) Hits PubMed IDs
nor 1 86.7 7
androstane 78.4 10
estrogen 62.6 44
steroid 58.9 23
4-hydroxytamoxifen 58.1 1
genes like me logo Genes that share compounds with ESRRB: view

Transcripts for ESRRB Gene

Unigene Clusters for ESRRB Gene

Estrogen-related receptor beta:
Representative Sequences:

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 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 (11.8), Stomach (7.9), Heart - Left Ventricle (6.2), and Muscle - Skeletal (5.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ESRRB Gene

SOURCE GeneReport for Unigene cluster for ESRRB Gene Hs.435845

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

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 36
  • 99.15 (n)
  • 98.82 (a)
ESRRB 37
  • 88 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ESRRB 36
  • 93.46 (n)
  • 97.92 (a)
ESRRB 37
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ESRRB 36
  • 93.69 (n)
  • 98.38 (a)
ESRRB 37
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Esrrb 36
  • 88.76 (n)
  • 93.07 (a)
Esrrb 16
Esrrb 37
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ESRRB 37
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ESRRB 37
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Esrrb 36
  • 90.53 (n)
  • 95.61 (a)
chicken
(Gallus gallus)
Aves ESRRB 36
  • 83.45 (n)
  • 90.76 (a)
ESRRB 37
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ESRRB 37
  • 91 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii esrrb 37
  • 71 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ERR 37
  • 37 (a)
OneToMany
ERR 38
  • 45 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 47 (a)
OneToMany
Species with no ortholog for ESRRB:
  • 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)

Paralogs for ESRRB Gene

Paralogs for ESRRB Gene

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 Sequence Context AA Info Type MAF
rs715343 -- 76,441,963(+) CAACA(A/C/G)ATATT intron-variant
rs720967 -- 76,388,741(+) CCATG(C/T)CCAGC intron-variant
rs730452 -- 76,477,339(-) GATAC(C/G)TCACA intron-variant
rs732134 -- 76,451,185(-) CACTC(C/T)AGTGC intron-variant
rs733486 -- 76,430,870(+) TGGGT(G/T)TGGTG intron-variant

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

Variant ID Type Subtype PubMed ID
esv2748886 CNV Deletion 23290073
esv2668696 CNV Deletion 23128226
esv32586 CNV Loss 17666407
nsv507762 CNV Insertion 20534489
nsv902102 CNV Gain 21882294

Relevant External Links for ESRRB Gene

HapMap Linkage Disequilibrium report
ESRRB
Human Gene Mutation Database (HGMD)
ESRRB

Disorders for ESRRB Gene

(1) OMIM Diseases for ESRRB Gene (602167)

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.

(1) University of Copenhagen DISEASES for ESRRB Gene

(17) Novoseek inferred disease relationships for ESRRB Gene

Disease -log(P) Hits PubMed IDs
addisons disease 68.9 6
adrenal hypoplasia, congenital 55.2 2
kallmann syndrome 32.1 1
chondrosarcoma 22.7 2
breast cancer 17.9 4

Relevant External Links for ESRRB

Genetic Association Database (GAD)
ESRRB
Human Genome Epidemiology (HuGE) Navigator
ESRRB
genes like me logo Genes that share disorders with ESRRB: view

Publications for ESRRB Gene

  1. Chromosomal mapping of the human and murine orphan receptors ERRalpha (ESRRA) and ERRbeta (ESRRB) and identification of a novel human ERRalpha-related pseudogene. (PMID: 9344655) Sladek R. … GiguA"re V. (Genomics 1997) 2 3 23
  2. Identification and characterization of two novel splicing isoforms of human estrogen-related receptor beta. (PMID: 16332939) Zhou W. … Lubahn D.B. (J. Clin. Endocrinol. Metab. 2006) 3 4 23
  3. Estrogen receptor related beta is expressed in human endometrium throughout the normal menstrual cycle. (PMID: 18775884) Bombail V. … Saunders P.T. (Hum. Reprod. 2008) 3 4 23
  4. 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 P.T. (Mol. Cell. Endocrinol. 2010) 3 4 23
  5. Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35. (PMID: 18179891) Collin R.W.J. … Kremer H. (Am. J. Hum. Genet. 2008) 2 3 4

Products for ESRRB Gene

Sources for ESRRB Gene

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