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Esrrb Gene Detail
Summary
  • Symbol
    Esrrb
  • Name
    estrogen related receptor, beta
  • Synonyms
    Err2, ERR2, ERRb, Estrrb
  • Feature Type
    protein coding gene
  • IDs
    MGI:1346832
    NCBI Gene: 26380
  • Gene Overview
    MyGene.info: ESRRB
Location & Maps
more
  • Sequence Map
    Chr12:86361117-86521628 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      160512 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 40.49 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    ESRRB, estrogen related receptor beta
  • Vertebrate Orthologs
    7
  • Human Ortholog
    ESRRB, estrogen related receptor beta
    Orthology source: HomoloGene
  • Synonyms
    DFNB35, ERR2, ERRb, ESRL2, NR3B2
  • Links
    NCBI Gene ID: 2103
    neXtProt AC: NX_O95718

  • Chr Location
    14q24.3; chr14:76371299-76501839 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human ESRRB associations

Human Disease Mouse Models
       Deafness, Autosomal Recessive 35; DFNB35   OMIM: 608565
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    25 phenotypes from 3 alleles in 3 genetic backgrounds
    17 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    274
  • Chemically induced (other)
    1
  • Gene trapped
    266
  • Targeted
    7
  • Genomic Mutations
    1 involving Esrrb
  • Incidental Mutations
Mice homozygous for disruptions in this gene die as embryos around E9.5 or E10.5 as a result of failure of the chorion to develop and subsequent placental defects.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000023036 VEGA Gene Model | MGI Sequence Detail 160512 C57BL/6J ±  kb
transcript OTTMUST00000055512 VEGA | MGI Sequence Detail 4196 Not Applicable  
polypeptide OTTMUSP00000026587 VEGA | MGI Sequence Detail 454 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    586 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    6 Sequences
  • Protein Ontology
    PR:000007209 steroid hormone receptor ERR2
  • InterPro Domains
    IPR001723 Nuclear hormone receptor
    IPR000536 Nuclear hormone receptor, ligand-binding domain
    IPR024178 Oestrogen receptor/oestrogen-related receptor
    IPR027289 Oestrogen-related receptor
    IPR013088 Zinc finger, NHR/GATA-type
    IPR001628 Zinc finger, nuclear hormone receptor-type
Molecular
Reagents
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  • All nucleic 43
    Genomic 2
    cDNA 34
    Primer pair 5
    Other 2

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-35849, MGI:107382
References
more
  • Summaries
    All 84
    Developmental Gene Expression 37
    Gene Ontology 10
    Phenotypes 17
  • Earliest
    J:31609 Pettersson K, et al., Expression of a novel member of estrogen response element-binding nuclear receptors is restricted to the early stages of chorion formation during mouse embryogenesis. Mech Dev. 1996 Feb;54(2):211-23
  • Latest
    J:231798 Chen CY, et al., Targeted inactivation of murine Ddx3x: essential roles of Ddx3x in placentation and embryogenesis. Hum Mol Genet. 2016 May 14;

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory