• Gene id: 4862

Gene Summary

• Gene Symbol: NPAS2   Gene   UCSC   Ensembl
• Aliases: MOP4, PASD4, bHLHe9
• Gene name: neuronal PAS domain protein 2
• Alternate names: neuronal PAS domain-containing protein 2, PAS domain-containing protein 4, basic-helix-loop-helix-PAS protein MOP4, class E basic helix-loop-helix protein 9, member of PAS protein 4, member of PAS superfamily 4, neuronal PAS2,
• Gene location: 2q11.2 (100820150: 100996828)     Exons: 25     NC_000002.12
• Gene summary(Entrez): The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH)-PAS family of transcription factors. A similar mouse protein may play a regulatory role in the acquisition of specific types of memory. It also may function as a part of a m
• OMIM: 603347

SNPs

rs879253743

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

NC_000002.12   g.100975538C>A
NC_000002.12   g.100975538C>G
NC_000002.11   g.101592000C>A
NC_000002.11   g.101592000C>G
NG_023259.1   g.160388C>A
NG_023259.1   g.160388C>G
NM_002518.4   c.1363C>A
NM_002518.4   c.1363C>G
NM_002518.3   c.1363C>A
NM_002518.3   c.1363C>G
XM  

Protein Summary

• Protein general information: Q99743  
  • Name: Neuronal PAS domain containing protein 2 (Neuronal PAS2) (Basic helix loop helix PAS protein MOP4) (Class E basic helix loop helix protein 9) (bHLHe9) (Member of PAS protein 4) (PAS domain containing protein 4)
  • Length: 824  
  • Mass: 91,791
• Sequence:

  MDEDEKDRAKRASRNKSEKKRRDQFNVLIKELSSMLPGNTRKMDKTTVLEKVIGFLQKHNEVSAQTEICDIQQDW
  KPSFLSNEEFTQLMLEALDGFIIAVTTDGSIIYVSDSITPLLGHLPSDVMDQNLLNFLPEQEHSEVYKILSSHML
  VTDSPSPEYLKSDSDLEFYCHLLRGSLNPKEFPTYEYIKFVGNFRSYNNVPSPSCNGFDNTLSRPCRVPLGKEVC
  FIATVRLATPQFLKEMCIVDEPLEEFTSRHSLEWKFLFLDHRAPPIIGYLPFEVLGTSGYDYYHIDDLELLARCH
  QHLMQFGKGKSCCYRFLTKGQQWIWLQTHYYITYHQWNSKPEFIVCTHSVVSYADVRVERRQELALEDPPSEALH
  SSALKDKGSSLEPRQHFNTLDVGASGLNTSHSPSASSRSSHKSSHTAMSEPTSTPTKLMAEASTPALPRSATLPQ
  ELPVPGLSQAATMPAPLPSPSSCDLTQQLLPQTVLQSTPAPMAQFSAQFSMFQTIKDQLEQRTRILQANIRWQQE
  ELHKIQEQLCLVQDSNVQMFLQQPAVSLSFSSTQRPEAQQQLQQRSAAVTQPQLGAGPQLPGQISSAQVTSQHLL
  RESSVISTQGPKPMRSSQLMQSSGRSGSSLVSPFSSATAALPPSLNLTTPASTSQDASQCQPSPDFSHDRQLRLL
  LSQPIQPMMPGSCDARQPSEVSRTGRQVKYAQSQTVFQNPDAHPANSSSAPMPVLLMGQAVLHPSFPASQPSPLQ
  PAQARQQPPQHYLQVQAPTSLHSEQQDSLLLSTYSQQPGTLGYPQPPPAQPQPLRPPRRVSSLSESSGLQQPPR

• Structural information:
  • Protein Domains: bHLH. (9-59)
    PAS (82-152)
    PAS (237-307)
    PAC. (311-354)
  • Interpro: IPR011598  IPR036638  IPR001067  IPR001610  IPR000014   IPR035965  IPR013767  
  • Prosite: PS50888 PS50112
  • CDD: cd00083 cd00130
  • DIP: 60821
  • STRING: ENSP00000338283
• Other Databases: GeneCards:  NPAS2  Malacards:  NPAS2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001047	core promoter binding	ISS	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003677	DNA binding	IPI	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005667	transcription factor complex	IPI	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0007417	central nervous system development	TAS	biological process
GO:0007623	circadian rhythm	TAS	biological process
GO:0032922	circadian regulation of gene expression	ISS	biological process
GO:0045739	positive regulation of DNA repair	IMP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IGI	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0051775	response to redox state	IDA	biological process
GO:0051879	Hsp90 protein binding	IDA	molecular function
GO:0060548	negative regulation of cell death	IMP	biological process
GO:2001020	regulation of response to DNA damage stimulus	IMP	biological process
GO:0001047	core promoter binding	ISS	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003677	DNA binding	IPI	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IEA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005667	transcription factor complex	IEA	cellular component
GO:0005667	transcription factor complex	IPI	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0007417	central nervous system development	TAS	biological process
GO:0007623	circadian rhythm	TAS	biological process
GO:0032922	circadian regulation of gene expression	ISS	biological process
GO:0045739	positive regulation of DNA repair	IMP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IGI	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0048511	rhythmic process	IEA	biological process
GO:0051775	response to redox state	IDA	biological process
GO:0051879	Hsp90 protein binding	IDA	molecular function
GO:0060548	negative regulation of cell death	IMP	biological process
GO:2001020	regulation of response to DNA damage stimulus	IMP	biological process
GO:0001047	core promoter binding	ISS	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003677	DNA binding	IPI	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005667	transcription factor complex	IPI	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0007417	central nervous system development	TAS	biological process
GO:0007623	circadian rhythm	TAS	biological process
GO:0032922	circadian regulation of gene expression	ISS	biological process
GO:0045739	positive regulation of DNA repair	IMP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IGI	biological process
GO:0051775	response to redox state	IDA	biological process
GO:0051879	Hsp90 protein binding	IDA	molecular function
GO:0060548	negative regulation of cell death	IMP	biological process
GO:2001020	regulation of response to DNA damage stimulus	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04710	Circadian rhythm

Diseases

Associated diseases	References
Cancer	GAD: 17096334
Cancer (lymphoma)	GAD: 17096334
Cancer (prostate)	GAD: 19934327
Cancer (breast)	GAD: 17453337
Metabolic syndrome	GAD: 19470168
Autism	GAD: 17264841
Bipolar disorder	GAD: 16528748
Depression	GAD: 19693801
Schizophrenia	GAD: 19839995
Psychological disorders	GAD: 19693801
Miscarriage	INFBASE: 20368993
Non obstructive azoospermia	MIK: 25956372
Cryptorchidism	MIK: 28606200
Nonobstructive azoospermia (NOA)	MIK: 25956372
Sperm number defects	MIK: 29713536
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25956372	Nonobstructive azoospermia (NOA)		Turkish	2 siblings in a consanguineous family with NOA	Male infertility	NPAS2
29713536	Sperm number defects	chr2: 101592000C?>?G (p.P455A)			Male infertility	NGS
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray