ENSG00000119715


Homo sapiens

Features
Gene ID: ENSG00000119715
  
Biological name :ESRRB
  
Synonyms : ESRRB / estrogen related receptor beta / O95718
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 14
Strand: 1
Band: q24.3
Gene start: 76310712
Gene end: 76501837
  
Corresponding Affymetrix probe sets: 1556156_at (Human Genome U133 Plus 2.0 Array)   207726_at (Human Genome U133 Plus 2.0 Array)   223858_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000493776
Ensembl peptide - ENSP00000424992
Ensembl peptide - ENSP00000494434
Ensembl peptide - ENSP00000370270
Ensembl peptide - ENSP00000422488
Ensembl peptide - ENSP00000423004
NCBI entrez gene - 2103     See in Manteia.
OMIM - 602167
RefSeq - XM_017021086
RefSeq - NM_004452
RefSeq - XM_011536553
RefSeq - XM_011536554
RefSeq - XM_017021085
RefSeq - XM_011536547
RefSeq - XM_011536550
RefSeq Peptide - NP_004443
swissprot - O95718
swissprot - E7EWD9
Ensembl - ENSG00000119715
  
Related genetic diseases (OMIM): 608565 - Deafness, autosomal recessive 35, 608565

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 esrrbENSDARG00000100847Danio rerio
 ESRRBENSGALG00000041775Gallus gallus
 EsrrbENSMUSG00000021255Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ESRRG / P62508 / estrogen related receptor gammaENSG0000019648267
ESRRA / P11474 / estrogen related receptor alphaENSG0000017315350
ESR1 / P03372 / estrogen receptor 1ENSG0000009183131
ESR2 / Q92731 / estrogen receptor 2ENSG0000014000929
NR4A1 / P22736 / nuclear receptor subfamily 4 group A member 1ENSG0000012335825
NR4A2 / P43354 / nuclear receptor subfamily 4 group A member 2ENSG0000015323423
NR3C1 / P04150 / nuclear receptor subfamily 3 group C member 1ENSG0000011358022
NR3C2 / P08235 / nuclear receptor subfamily 3 group C member 2ENSG0000015162322
NR4A3 / Q92570 / nuclear receptor subfamily 4 group A member 3ENSG0000011950821
PGR / P06401 / progesterone receptorENSG0000008217521
AR / P10275 / androgen receptorENSG0000016908320


Protein motifs (from Interpro)
Interpro ID Name
 IPR000536  Nuclear hormone receptor, ligand-binding domain
 IPR001628  Zinc finger, nuclear hormone receptor-type
 IPR001723  Nuclear hormone receptor
 IPR013088  Zinc finger, NHR/GATA-type
 IPR024178  Oestrogen receptor/oestrogen-related receptor
 IPR027289  Oestrogen-related receptor
 IPR035500  Nuclear hormone receptor-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IDA
 biological_processGO:0006367 transcription initiation from RNA polymerase II promoter TAS
 biological_processGO:0017145 stem cell division ISS
 biological_processGO:0019827 stem cell population maintenance IDA
 biological_processGO:0030522 intracellular receptor signaling pathway IEA
 biological_processGO:0043401 steroid hormone mediated signaling pathway IEA
 biological_processGO:0043697 cell dedifferentiation ISS
 biological_processGO:0045494 photoreceptor cell maintenance ISS
 biological_processGO:0045725 positive regulation of glycogen biosynthetic process IEA
 biological_processGO:0045821 positive regulation of glycolytic process IEA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated ISS
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II ISS
 biological_processGO:0048839 inner ear development ISS
 biological_processGO:0071931 positive regulation of transcription involved in G1/S transition of mitotic cell cycle ISS
 biological_processGO:0090282 positive regulation of transcription involved in G2/M transition of mitotic cell cycle ISS
 biological_processGO:1902459 positive regulation of stem cell population maintenance ISS
 biological_processGO:2000035 regulation of stem cell division ISS
 biological_processGO:2000737 negative regulation of stem cell differentiation ISS
 cellular_componentGO:0000793 condensed chromosome ISS
 cellular_componentGO:0005634 nucleus ISS
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005694 chromosome IEA
 cellular_componentGO:0005737 cytoplasm ISS
 cellular_componentGO:0032039 integrator complex ISS
 molecular_functionGO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding ISS
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0000993 RNA polymerase II core binding ISS
 molecular_functionGO:0001047 core promoter binding ISS
 molecular_functionGO:0001158 enhancer sequence-specific DNA binding ISS
 molecular_functionGO:0001205 transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific DNA binding ISS
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity ISS
 molecular_functionGO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding ISS
 molecular_functionGO:0003707 steroid hormone receptor activity IEA
 molecular_functionGO:0003713 transcription coactivator activity ISS
 molecular_functionGO:0004879 nuclear receptor activity TAS
 molecular_functionGO:0005496 steroid binding IEA
 molecular_functionGO:0008134 transcription factor binding ISS
 molecular_functionGO:0008270 zinc ion binding IEA
 molecular_functionGO:0035326 enhancer binding ISS
 molecular_functionGO:0043565 sequence-specific DNA binding IDA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Nuclear Receptor transcription pathway


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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