• Gene id: 2104

Gene Summary

• Gene Symbol: ESRRG   Gene   UCSC   Ensembl
• Aliases: ERR-gamma, ERR3, ERRg, ERRgamma, NR3B3
• Gene name: estrogen related receptor gamma
• Alternate names: estrogen-related receptor gamma, ERR gamma-2, estrogen receptor-related protein 3, nuclear receptor subfamily 3 group B member 3,
• Gene location: 1q41 (217137701: 216503245)     Exons: 28     NC_000001.11
• Gene summary(Entrez): This gene encodes a member of the estrogen receptor-related receptor (ESRR) family, which belongs to the nuclear hormone receptor superfamily. All members of the ESRR family share an almost identical DNA binding domain, which is composed of two C4-type zi
• OMIM: 602969

Protein Summary

• Protein general information: P62508  
  • Name: Estrogen related receptor gamma (ERR gamma 2) (Estrogen receptor related protein 3) (Nuclear receptor subfamily 3 group B member 3)
  • Length: 458  
  • Mass: 51306
  • Tissue specificity: Expressed in the heart, kidney, brain, lung, bone marrow, adrenal gland, trachea, spinal cord and thyroid gland. {ECO
• Sequence:

  MDSVELCLPESFSLHYEEELLCRMSNKDRHIDSSCSSFIKTEPSSPASLTDSVNHHSPGGSSDASGSYSSTMNGH
  QNGLDSPPLYPSAPILGGSGPVRKLYDDCSSTIVEDPQTKCEYMLNSMPKRLCLVCGDIASGYHYGVASCEACKA
  FFKRTIQGNIEYSCPATNECEITKRRRKSCQACRFMKCLKVGMLKEGVRLDRVRGGRQKYKRRIDAENSPYLNPQ
  LVQPAKKPYNKIVSHLLVAEPEKIYAMPDPTVPDSDIKALTTLCDLADRELVVIIGWAKHIPGFSTLSLADQMSL
  LQSAWMEILILGVVYRSLSFEDELVYADDYIMDEDQSKLAGLLDLNNAILQLVKKYKSMKLEKEEFVTLKAIALA
  NSDSMHIEDVEAVQKLQDVLHEALQDYEAGQHMEDPRRAGKMLMTLPLLRQTSTKAVQHFYNIKLEGKVPMHKLF
  LEMLEAKV

• Structural information:
  • Protein Domains: (233..45-)
    (/note="NR-LBD)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01189"-)
  • Interpro: IPR035500  IPR000536  IPR001723  IPR027289  IPR024178   IPR003078  IPR001628  IPR013088  
  • Prosite: PS51843 PS00031 PS51030
  • PDB: 1KV6 1TFC 1VJB 2E2R 2EWP 2GP7 2GPO 2GPP 2GPU 2GPV 2P7A 2P7G 2P7Z 2ZAS 2ZBS 2ZKC 5YSO 6A6K 6I61 6I62 6I63 6I64 6I65 6I66 6I67
  • PDBsum: 1KV6 1TFC 1VJB 2E2R 2EWP 2GP7 2GPO 2GPP 2GPU 2GPV 2P7A 2P7G 2P7Z 2ZAS 2ZBS 2ZKC 5YSO 6A6K 6I61 6I62 6I63 6I64 6I65 6I66 6I67
  • STRING: ENSP00000355904
• Other Databases: GeneCards:  ESRRG  Malacards:  ESRRG

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003707	steroid hormone receptor activity	IEA	molecular function
GO:0004879	nuclear receptor activity	IEA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0042025	host cell nucleus	IEA	cellular component
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005496	steroid binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0048384	retinoic acid receptor signaling pathway	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0120162	positive regulation of cold-induced thermogenesis	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0120162	positive regulation of cold-induced thermogenesis	ISS	biological process
GO:0043401	steroid hormone mediated signaling pathway	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0050682	AF-2 domain binding	ISS	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray