• Gene id: 9975

Gene Summary

• Gene Symbol: NR1D2   Gene   UCSC   Ensembl
• Aliases: BD73, EAR-1R, REVERBB, REVERBbeta, RVR
• Gene name: nuclear receptor subfamily 1 group D member 2
• Alternate names: nuclear receptor subfamily 1 group D member 2, V-erbA-related protein 1-related, nuclear receptor Rev-ErbA beta variant 1, nuclear receptor Rev-ErbA beta variant 2, orphan nuclear hormone receptor BD73, rev-erb alpha-related receptor, rev-erb-beta, rev-erba-alph,
• Gene location: 3p24.2 (23945285: 23980617)     Exons: 10     NC_000003.12
• Gene summary(Entrez): This gene encodes a member of the nuclear hormone receptor family, specifically the NR1 subfamily of receptors. The encoded protein functions as a transcriptional repressor and may play a role in circadian rhythms and carbohydrate and lipid metabolism. Al
• OMIM: 602304

Protein Summary

• Protein general information: Q14995  
  • Name: Nuclear receptor subfamily 1 group D member 2 (Orphan nuclear hormone receptor BD73) (Rev erb alpha related receptor) (RVR) (Rev erb beta) (V erbA related protein 1 related) (EAR 1R)
  • Length: 579  
  • Mass: 64625
  • Tissue specificity: Widely expressed. Expressed at high levels in the liver, adipose tissue, skeletal muscle and brain. Expression oscillates diurnally in the suprachiasmatic nucleus (SCN) of the hypothalamus as well as in peripheral tissues.
• Sequence:

  MEVNAGGVIAYISSSSSASSPASCHSEGSENSFQSSSSSVPSSPNSSNSDTNGNPKNGDLANIEGILKNDRIDCS
  MKTSKSSAPGMTKSHSGVTKFSGMVLLCKVCGDVASGFHYGVHACEGCKGFFRRSIQQNIQYKKCLKNENCSIMR
  MNRNRCQQCRFKKCLSVGMSRDAVRFGRIPKREKQRMLIEMQSAMKTMMNSQFSGHLQNDTLVEHHEQTALPAQE
  QLRPKPQLEQENIKSSSPPSSDFAKEEVIGMVTRAHKDTFMYNQEQQENSAESMQPQRGERIPKNMEQYNLNHDH
  CGNGLSSHFPCSESQQHLNGQFKGRNIMHYPNGHAICIANGHCMNFSNAYTQRVCDRVPIDGFSQNENKNSYLCN
  TGGRMHLVCPLSKSPYVDPHKSGHEIWEEFSMSFTPAVKEVVEFAKRIPGFRDLSQHDQVNLLKAGTFEVLMVRF
  ASLFDAKERTVTFLSGKKYSVDDLHSMGAGDLLNSMFEFSEKLNALQLSDEEMSLFTAVVLVSADRSGIENVNSV
  EALQETLIRALRTLIMKNHPNEASIFTKLLLKLPDLRSLNNMHSEELLAFKVHP

• Structural information:
  • Protein Domains: (369..57-)
    (/note="NR-LBD)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01189"-)
  • Interpro: IPR035500  IPR000536  IPR001723  IPR001628  IPR013088  
  • Prosite: PS51843 PS00031 PS51030
  • PDB: 2V0V 2V7C 3CQV 4N73
  • PDBsum: 2V0V 2V7C 3CQV 4N73
  • STRING: ENSP00000310006
• Other Databases: GeneCards:  NR1D2  Malacards:  NR1D2

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:0004879	nuclear receptor activity	IBA	molecular function
GO:0009755	hormone-mediated signaling pathway	IBA	biological process
GO:0030154	cell differentiation	IBA	biological process
GO:0038023	signaling receptor activity	IBA	molecular function
GO:0090575	RNA polymerase II transcription regulator complex	IBA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0008134	transcription factor binding	IBA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:2001014	regulation of skeletal muscle cell differentiation	ISS	biological process
GO:0050727	regulation of inflammatory response	ISS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0019216	regulation of lipid metabolic process	ISS	biological process
GO:0048512	circadian behavior	ISS	biological process
GO:0097009	energy homeostasis	ISS	biological process
GO:0055088	lipid homeostasis	ISS	biological process
GO:0042752	regulation of circadian rhythm	ISS	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:0005737	cytoplasm	ISS	cellular component
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:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0048511	rhythmic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
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:2001014	regulation of skeletal muscle cell differentiation	IEA	biological process
GO:0050727	regulation of inflammatory response	IEA	biological process
GO:0048512	circadian behavior	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0019216	regulation of lipid metabolic process	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0097009	energy homeostasis	IEA	biological process
GO:0055088	lipid homeostasis	IEA	biological process
GO:0050728	negative regulation of inflammatory response	IEA	biological process
GO:0042752	regulation of circadian rhythm	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA	molecular function
GO:0000987	cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043401	steroid hormone mediated signaling pathway	IEA	biological process
GO:0030522	intracellular receptor signaling pathway	IEA	biological process
GO:0030522	intracellular receptor signaling pathway	IEA	biological process
GO:0004879	nuclear receptor activity	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0006355	regulation of transcription, DNA-templated	TAS	biological process

Diseases

Associated diseases	References
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray