Free for academic non-profit institutions. Other users need a Commercial license

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 Dfnb35 Nonsyndromic Hearing Loss And Deafness. Among its related pathways are Gene Expression and Signaling pathways regulating pluripotency of stem cells. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription factor binding. An important paralog of this gene is ESRRG.

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. 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

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

Genomics for ESRRB Gene

Regulatory Elements for ESRRB Gene

Enhancers for ESRRB Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14G076200 1.2 Ensembl ENCODE 13 -107.7 -107731 4.7 HDGF TBP PKNOX1 TBL1XR1 WRNIP1 BMI1 RFX5 ELK1 ZNF143 ZNF207 GPATCH2L ENSG00000258454 ESRRB GC14P076200 PIR37482
GH14G076314 0.5 ENCODE 25.3 +4.1 4083 1.1 FOSL1 PRDM6 FEZF1 ZNF384 ZIC2 ESRRB GC14P076344
GH14G076310 0.8 Ensembl ENCODE 14.8 +0.7 666 1.0 CTCF ZNF580 ZIC2 PRDM1 EP300 EZH2 ESRRB GC14P076344
GH14G076151 1.1 ENCODE 9.2 -158.2 -158217 2.4 WRNIP1 SIN3A FEZF1 DMAP1 YBX1 CBX5 FOS SP3 SP5 NFYC GPATCH2L ESRRB ENSG00000258454 ENSG00000283629
GH14G076352 1.2 Ensembl ENCODE 6.7 +42.2 42227 1.1 HDGF MLX ARID4B ZNF2 ZNF48 SLC30A9 ZNF143 ZNF207 SP5 MXD4 ESRRB GC14M076354 GC14P076344
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ESRRB on UCSC Golden Path with GeneCards custom track

Genomic Location for ESRRB Gene

Chromosome:
14
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

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:
    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

Post-translational modifications for ESRRB Gene

Antibody Products

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

No data available for DME Specific Peptides for ESRRB Gene

Domains & Families for ESRRB Gene

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

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:0000993 RNA polymerase II core binding ISS --
GO:0001047 core promoter binding ISS --
GO:0001158 enhancer sequence-specific DNA binding ISS --
GO:0001205 transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific 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

CRISPR Products

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

Inhibitory RNA Products

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

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

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:0005737 cytoplasm ISS --
GO:0032039 colocalizes_with integrator complex ISS --
genes like me logo Genes that share ontologies with ESRRB: view

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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Diethylstilbestrol Approved Pharma Agonist, agonist 5
Estradiol Approved, Investigational, Vet_approved Pharma Sex hormone 1318
Estriol Approved, Vet_approved Pharma Agonist 0
Estrone Approved Pharma Agonist Estrogenic hormone 21
Ethinyl Estradiol Approved Pharma Oral contraceptive 728

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5,7-dihydroxy-4-methoxyisoflavone
Agonist
7,4-dihydroxyisoflavone
Agonist
ICI 182,780
129453-61-8

(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

(19) ApexBio Compounds for ESRRB Gene

Compound Action Cas Number
Altrenogest 850-52-2
Bazedoxifene HCl 198480-56-7
Clomiphene citrate 50-41-9
Equol 531-95-3
Estradiol Sex hormone 50-28-2
Estradiol Cypionate 313-06-4
Estriol 50-27-1
Estrone Estrogenic hormone 53-16-7
Ethinyl Estradiol Oral contraceptive 57-63-6
Ethisterone Progestogen hormone 434-03-7
Ethynodiol diacetate 297-76-7
Fulvestrant Estrogen receptor antagonist,high affinity 129453-61-8
Gestodene 60282-87-3
Hexestrol 84-16-2
Medroxyprogesterone acetate Steroidal progestin 71-58-9
Ospemifene 128607-22-7
Raloxifene HCl Estrogen receptor (ER) 82640-04-8
Tamoxifen Citrate Antiestrogen drug 54965-24-1
Toremifene Citrate 89778-27-8
genes like me logo Genes that share compounds with ESRRB: view

Drug Products

Transcripts for ESRRB Gene

Unigene Clusters for ESRRB Gene

Estrogen-related receptor beta:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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, PaxDb, 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
Organs:
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

Primer Products

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 35
  • 99.15 (n)
dog
(Canis familiaris)
Mammalia ESRRB 34 35
  • 93.69 (n)
cow
(Bos Taurus)
Mammalia ESRRB 34 35
  • 93.46 (n)
rat
(Rattus norvegicus)
Mammalia Esrrb 34
  • 90.53 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ESRRB 35
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Esrrb 34 16 35
  • 88.76 (n)
oppossum
(Monodelphis domestica)
Mammalia ESRRB 35
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves ESRRB 34 35
  • 83.45 (n)
lizard
(Anolis carolinensis)
Reptilia ESRRB 35
  • 91 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii esrrb 35
  • 71 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ERR 36 35
  • 45 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

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
rs121909110 Pathogenic, Deafness, autosomal recessive, 35 (DFNB35) [MIM:608565] 76,439,682(+) CATTG(C/T)CTCTG nc-transcript-variant, reference, missense
rs121909111 Pathogenic, Deafness, autosomal recessive, 35 (DFNB35) [MIM:608565] 76,491,683(+) AGTTT(G/T)TGACG nc-transcript-variant, reference, missense
rs201714970 Deafness, autosomal recessive, 35 (DFNB35) [MIM:608565] 76,498,322(+) GAGGA(C/T)GGGCA nc-transcript-variant, reference, missense
VAR_043504 Deafness, autosomal recessive, 35 (DFNB35) [MIM:608565]
VAR_043506 Deafness, autosomal recessive, 35 (DFNB35) [MIM:608565]

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)

Relevant External Links for ESRRB Gene

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

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

Disorders for ESRRB Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
deafness, autosomal recessive 35
  • autosomal recessive nonsyndromic deafness 35
dfnb35 nonsyndromic hearing loss and deafness
  • dfnb 35 nonsyndromic hearing loss and deafness
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
deafness, autosomal recessive
adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism
  • ahc
- 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.

Relevant External Links for ESRRB

Genetic Association Database (GAD)
ESRRB
Human Genome Epidemiology (HuGE) Navigator
ESRRB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ESRRB
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 P.T. (Mol. Cell. Endocrinol. 2010) 3 4 22 64
  2. 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 64
  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 22 64
  4. 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 22 64
  5. 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 22 64

Products for ESRRB Gene

  • Addgene plasmids for ESRRB

Sources for ESRRB Gene

Content
Loading form....