• Gene id: 4808

Gene Summary

• Gene Symbol: NHLH2   Gene   UCSC   Ensembl
• Aliases: HEN2, NSCL2, bHLHa34
• Gene name: nescient helix-loop-helix 2
• Alternate names: helix-loop-helix protein 2, HEN-2, NSCL-2, class A basic helix-loop-helix protein 34,
• Gene location: 1p13.1 (115841125: 115830776)     Exons: 2     NC_000001.11
• OMIM: 162361

Protein Summary

• Protein general information: Q02577  
  • Name: Helix loop helix protein 2 (HEN 2) (Class A basic helix loop helix protein 34) (bHLHa34) (Nescient helix loop helix 2) (NSCL 2)
  • Length: 135  
  • Mass: 15018
• Sequence:

  MMLSPDQAADSDHPSSAHSDPESLGGTDTKVLGSVSDLEPVEEAEGDGKGGSRAALYPHPQQLSREEKRRRRRAT
  AKYRSAHATRERIRVEAFNLAFAELRKLLPTLPPDKKLSKIEILRLAICYISYLNHVLDV

• Structural information:
  • Protein Domains: (77..12-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981"-)
  • Interpro: IPR011598  IPR036638  IPR040238  
  • Prosite: PS50888
  • CDD: cd00083
  • STRING: ENSP00000358519
• Other Databases: GeneCards:  NHLH2  Malacards:  NHLH2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0007417	central nervous system development	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0042698	ovulation cycle	IEA	biological process
GO:0007617	mating behavior	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:0001102	RNA polymerase II activating transcription factor binding	IPI	molecular function
GO:0005667	transcription regulator complex	TAS	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	TAS	biological process
GO:0051091	positive regulation of DNA-binding transcription factor activity	TAS	biological process
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881