• Gene id: 4929

Gene Summary

• Gene Symbol: NR4A2   Gene   UCSC   Ensembl
• Aliases: HZF-3, NOT, NURR1, RNR1, TINUR
• Gene name: nuclear receptor subfamily 4 group A member 2
• Alternate names: nuclear receptor subfamily 4 group A member 2, NGFI-B/nur77 beta-type transcription factor homolog, T-cell nuclear receptor NOT, immediate-early response protein NOT, intermediate-early receptor protein, nuclear receptor related 1, nur related protein-1, human ,
• Gene location: 2q24.1 (156332723: 156324431)     Exons: 14     NC_000002.12
• Gene summary(Entrez): This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcription factor. Mutations in this gene have been associated with disorders related to dopaminergic dysfunction, including Parki
• OMIM: 601828

Protein Summary

• Protein general information: P43354  
  • Name: Nuclear receptor subfamily 4 group A member 2 (Immediate early response protein NOT) (Orphan nuclear receptor NURR1) (Transcriptionally inducible nuclear receptor)
  • Length: 598  
  • Mass: 66591
  • Tissue specificity: Expressed in a number of cell lines of T-cell, B-cell and fibroblast origin. Strong expression in brain tissue.
• Sequence:

  MPCVQAQYGSSPQGASPASQSYSYHSSGEYSSDFLTPEFVKFSMDLTNTEITATTSLPSFSTFMDNYSTGYDVKP
  PCLYQMPLSGQQSSIKVEDIQMHNYQQHSHLPPQSEEMMPHSGSVYYKPSSPPTPTTPGFQVQHSPMWDDPGSLH
  NFHQNYVATTHMIEQRKTPVSRLSLFSFKQSPPGTPVSSCQMRFDGPLHVPMNPEPAGSHHVVDGQTFAVPNPIR
  KPASMGFPGLQIGHASQLLDTQVPSPPSRGSPSNEGLCAVCGDNAACQHYGVRTCEGCKGFFKRTVQKNAKYVCL
  ANKNCPVDKRRRNRCQYCRFQKCLAVGMVKEVVRTDSLKGRRGRLPSKPKSPQEPSPPSPPVSLISALVRAHVDS
  NPAMTSLDYSRFQANPDYQMSGDDTQHIQQFYDLLTGSMEIIRGWAEKIPGFADLPKADQDLLFESAFLELFVLR
  LAYRSNPVEGKLIFCNGVVLHRLQCVRGFGEWIDSIVEFSSNLQNMNIDISAFSCIAALAMVTERHGLKEPKRVE
  ELQNKIVNCLKDHVTFNNGGLNRPNYLSKLLGKLPELRTLCTQGLQRIFYLKLEDLVPPPAIIDKLFLDTLPF

• Structural information:
  • Protein Domains: (360..59-)
    (/note="NR-LBD)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01189"-)
  • Interpro: IPR035500  IPR003070  IPR000536  IPR001723  IPR003073   IPR001628  IPR013088  
  • Prosite: PS51843 PS00031 PS51030
  • PDB: 1OVL 5Y41 5YD6 6DDA
  • PDBsum: 1OVL 5Y41 5YD6 6DDA
  • STRING: ENSP00000344479
• Other Databases: GeneCards:  NR4A2  Malacards:  NR4A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004879	nuclear receptor activity	TAS	molecular function
GO:0008013	beta-catenin binding	TAS	molecular function
GO:0008013	beta-catenin binding	TAS	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0032991	protein-containing complex	TAS	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0001764	neuron migration	TAS	biological process
GO:0046965	retinoid X receptor binding	TAS	molecular function
GO:1904948	midbrain dopaminergic neuron differentiation	TAS	biological process
GO:1904948	midbrain dopaminergic neuron differentiation	TAS	biological process
GO:1904948	midbrain dopaminergic neuron differentiation	TAS	biological process
GO:1904948	midbrain dopaminergic neuron differentiation	TAS	biological process
GO:0005634	nucleus	TAS	cellular component
GO:2001234	negative regulation of apoptotic signaling pathway	IMP	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	TAS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	TAS	biological process
GO:0060070	canonical Wnt signaling pathway	TAS	biological process
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:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0071376	cellular response to corticotropin-releasing hormone stimulus	IBA	biological process
GO:0071542	dopaminergic neuron differentiation	IBA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005667	transcription regulator complex	IBA	cellular component
GO:0021953	central nervous system neuron differentiation	IBA	biological process
GO:0035259	glucocorticoid receptor binding	IBA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0043565	sequence-specific DNA binding	IBA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0045444	fat cell differentiation	ISS	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS	molecular function
GO:0071542	dopaminergic neuron differentiation	ISS	biological process
GO:0046982	protein heterodimerization activity	ISS	molecular function
GO:0071376	cellular response to corticotropin-releasing hormone stimulus	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	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:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0004879	nuclear receptor activity	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0007165	signal transduction	NAS	biological process
GO:0031668	cellular response to extracellular stimulus	IDA	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: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:0045444	fat cell differentiation	IEA	biological process
GO:0043576	regulation of respiratory gaseous exchange	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0042551	neuron maturation	IEA	biological process
GO:0042417	dopamine metabolic process	IEA	biological process
GO:0042053	regulation of dopamine metabolic process	IEA	biological process
GO:0034599	cellular response to oxidative stress	IEA	biological process
GO:0031668	cellular response to extracellular stimulus	IEA	biological process
GO:0021986	habenula development	IEA	biological process
GO:0009791	post-embryonic development	IEA	biological process
GO:0008344	adult locomotory behavior	IEA	biological process
GO:0001975	response to amphetamine	IEA	biological process
GO:0001764	neuron migration	IEA	biological process
GO:0001666	response to hypoxia	IEA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0071542	dopaminergic neuron differentiation	IEA	biological process
GO:0071376	cellular response to corticotropin-releasing hormone stimulus	IEA	biological process
GO:0051866	general adaptation syndrome	IEA	biological process
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0043524	negative regulation of neuron apoptotic process	IEA	biological process
GO:0043085	positive regulation of catalytic activity	IEA	biological process
GO:0042416	dopamine biosynthetic process	IEA	biological process
GO:0035259	glucocorticoid receptor binding	IEA	molecular function
GO:0030182	neuron differentiation	IEA	biological process
GO:0021953	central nervous system neuron differentiation	IEA	biological process
GO:0021952	central nervous system projection neuron axonogenesis	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0010467	gene expression	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016607	nuclear speck	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:0030522	intracellular receptor signaling pathway	IEA	biological process
GO:0006351	transcription, DNA-templated	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04925	Aldosterone synthesis and secretion
hsa04928	Parathyroid hormone synthesis, secretion and action

Diseases

Associated diseases	References
Parkinson disease	KEGG:H00057
Parkinson disease	KEGG:H00057
Parkinson's disease	PMID:11914402
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospadias	MIK: 24778562
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
24778562	Hypospadias			13 (5 controls, 8 cases)	Male infertility	Microarray