• Gene id: 2103

Gene Summary

• Gene Symbol: ESRRB   Gene   UCSC   Ensembl
• Aliases: DFNB35, ERR beta-2, ERR2, ERRb, ERRbeta2, ESRL2, NR3B2
• Gene name: estrogen related receptor beta
• Alternate names: steroid hormone receptor ERR2, estrogen receptor-like 2, estrogen-related nuclear receptor beta, nuclear receptor ERRB2, nuclear receptor subfamily 3 group B member 2, orphan nuclear receptor,
• Gene location: 14q24.3 (76371346: 76501838)     Exons: 14     NC_000014.9
• Gene summary(Entrez): 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]
• OMIM: 601654

SNPs

rs7910927

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.63379150T>A
NC_000010.11   g.63379150T>G
NC_000010.10   g.65138910T>A
NC_000010.10   g.65138910T>G
NG_053187.1   g.147926A>T
NG_053187.1   g.147926A>C|SEQ=[T/A/G]|GENE=JMJD1C

rs10822184

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.63577393T>C
NC_000010.11   g.63577393T>G
NC_000010.10   g.65337153T>C
NC_000010.10   g.65337153T>G|SEQ=[T/C/G]|GENE=REEP3

Protein Summary

• Protein general information: O95718  
  • Name: Steroid hormone receptor ERR2 (ERR beta 2) (Estrogen receptor like 2) (Estrogen related receptor beta) (ERR beta) (Nuclear receptor subfamily 3 group B member 2)
  • Length: 433  
  • Mass: 48054
• Sequence:

  MSSDDRHLGSSCGSFIKTEPSSPSSGIDALSHHSPSGSSDASGGFGLALGTHANGLDSPPMFAGAGLGGTPCRKS
  YEDCASGIMEDSAIKCEYMLNAIPKRLCLVCGDIASGYHYGVASCEACKAFFKRTIQGNIEYSCPATNECEITKR
  RRKSCQACRFMKCLKVGMLKEGVRLDRVRGGRQKYKRRLDSESSPYLSLQISPPAKKPLTKIVSYLLVAEPDKLY
  AMPPPGMPEGDIKALTTLCDLADRELVVIIGWAKHIPGFSSLSLGDQMSLLQSAWMEILILGIVYRSLPYDDKLV
  YAEDYIMDEEHSRLAGLLELYRAILQLVRRYKKLKVEKEEFVTLKALALANSDSMYIEDLEAVQKLQDLLHEALQ
  DYELSQRHEEPWRTGKLLLTLPLLRQTAAKAVQHFYSVKLQGKVPMHKLFLEMLEAKV

• Structural information:
  • Protein Domains: (208..43-)
    (/note="NR-LBD)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01189"-)
  • Interpro: IPR035500  IPR000536  IPR001723  IPR027289  IPR024178   IPR001628  IPR013088  
  • Prosite: PS51843 PS00031 PS51030
  • PDB: 1LO1
  • PDBsum: 1LO1
  • STRING: ENSP00000422488
• Other Databases: GeneCards:  ESRRB  Malacards:  ESRRB

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:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0019827	stem cell population maintenance	IDA	biological process
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0032039	integrator complex	ISS	colocalizes with
GO:0003700	DNA-binding transcription factor activity	ISS	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS	molecular function
GO:2000737	negative regulation of stem cell differentiation	ISS	biological process
GO:0071931	positive regulation of transcription involved in G1/S transition of mitotic cell cycle	ISS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0045494	photoreceptor cell maintenance	ISS	biological process
GO:0017145	stem cell division	ISS	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0000793	condensed chromosome	ISS	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISS	molecular function
GO:0000987	cis-regulatory region sequence-specific DNA binding	ISS	molecular function
GO:0000993	RNA polymerase II complex binding	ISS	molecular function
GO:2000035	regulation of stem cell division	ISS	biological process
GO:1902459	positive regulation of stem cell population maintenance	ISS	biological process
GO:0090282	positive regulation of transcription involved in G2/M transition of mitotic cell cycle	ISS	biological process
GO:0048839	inner ear development	ISS	biological process
GO:0043697	cell dedifferentiation	ISS	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003707	steroid hormone 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:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0045821	positive regulation of glycolytic process	IEA	biological process
GO:0045725	positive regulation of glycogen biosynthetic process	IEA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS	molecular function
GO:0003700	DNA-binding transcription factor activity	ISS	molecular function
GO:0008134	transcription factor binding	ISS	molecular function
GO:0005634	nucleus	ISS	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0043401	steroid hormone mediated signaling pathway	IEA	biological process
GO:0001892	embryonic placenta development	NAS	NOT|biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04550	Signaling pathways regulating pluripotency of stem cells

Diseases

Associated diseases	References
Deafness, autosomal recessive	KEGG:H00605
Deafness, autosomal recessive	KEGG:H00605
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq