• Gene id: 10002

Gene Summary

• Gene Symbol: NR2E3   Gene   UCSC   Ensembl
• Aliases: ESCS, PNR, RNR, RP37, rd7
• Gene name: nuclear receptor subfamily 2 group E member 3
• Alternate names: photoreceptor-specific nuclear receptor, retina-specific nuclear receptor,
• Gene location: 15q23 (71810553: 71818252)     Exons: 8     NC_000015.10
• Gene summary(Entrez): This protein is part of a large family of nuclear receptor transcription factors involved in signaling pathways. Nuclear receptors have been shown to regulate pathways involved in embryonic development, as well as in maintenance of proper cell function in
• OMIM: 604485

Protein Summary

• Protein general information: Q9Y5X4  
  • Name: Photoreceptor specific nuclear receptor (Nuclear receptor subfamily 2 group E member 3) (Retina specific nuclear receptor)
  • Length: 410  
  • Mass: 44692
  • Tissue specificity: Eye specific; found solely in the outer nuclear layer of the adult neurosensory retina, where the nuclei of cone and rod photoreceptors reside. {ECO
• Sequence:

  METRPTALMSSTVAAAAPAAGAASRKESPGRWGLGEDPTGVSPSLQCRVCGDSSSGKHYGIYACNGCSGFFKRSV
  RRRLIYRCQVGAGMCPVDKAHRNQCQACRLKKCLQAGMNQDAVQNERQPRSTAQVHLDSMESNTESRPESLVAPP
  APAGRSPRGPTPMSAARALGHHFMASLITAETCAKLEPEDADENIDVTSNDPEFPSSPYSSSSPCGLDSIHETSA
  RLLFMAVKWAKNLPVFSSLPFRDQVILLEEAWSELFLLGAIQWSLPLDSCPLLAPPEASAAGGAQGRLTLASMET
  RVLQETISRFRALAVDPTEFACMKALVLFKPETRGLKDPEHVEALQDQSQVMLSQHSKAHHPSQPVRFGKLLLLL
  PSLRFITAERIELLFFRKTIGNTPMEKLLCDMFKN

• Structural information:
  • Protein Domains: (169..41-)
    (/note="NR-LBD)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01189"-)
  • Interpro: IPR035500  IPR000536  IPR001723  IPR000003  IPR001628   IPR013088  
  • Prosite: PS51843 PS00031 PS51030
  • PDB: 4LOG
  • PDBsum: 4LOG
  • STRING: ENSP00000482504
• Other Databases: GeneCards:  NR2E3  Malacards:  NR2E3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0030154	cell differentiation	IBA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0048856	anatomical structure development	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	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:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0050896	response to stimulus	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:0004879	nuclear receptor activity	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0007602	phototransduction	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0007601	visual perception	TAS	biological process
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:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0060041	retina development in camera-type eye	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0042462	eye photoreceptor cell development	IEA	biological process
GO:0045872	positive regulation of rhodopsin gene expression	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0043401	steroid hormone mediated signaling pathway	IEA	biological process
GO:0030522	intracellular receptor signaling pathway	IEA	biological process

Diseases

Associated diseases	References
Retinitis pigmentosa	KEGG:H00527
Vitreoretinal degeneration	KEGG:H00805
Enhanced S-cone syndrome	KEGG:H02075
Goldmann-Favre syndrome	KEGG:H02341
Retinitis pigmentosa	KEGG:H00527
Vitreoretinal degeneration	KEGG:H00805
Enhanced S-cone syndrome	KEGG:H02075
Goldmann-Favre syndrome	KEGG:H02341
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq