• Gene id: 58158

Gene Summary

• Gene Symbol: NEUROD4   Gene   UCSC   Ensembl
• Aliases: ATH-3, ATH3, Atoh3, MATH-3, MATH3, bHLHa4
• Gene name: neuronal differentiation 4
• Alternate names: neurogenic differentiation factor 4, class A basic helix-loop-helix protein 4, neurogenic differentiation 4, protein atonal homolog 3,
• Gene location: 12q13.2 (55019973: 55030016)     Exons: 2     NC_000012.12
• OMIM: 611635

Protein Summary

• Protein general information: Q9HD90  
  • Name: Neurogenic differentiation factor 4 (NeuroD4) (Class A basic helix loop helix protein 4) (bHLHa4) (Protein atonal homolog 3) (ATH 3) (Atoh3)
  • Length: 331  
  • Mass: 37041
• Sequence:

  MSKTFVKSKEMGELVNTPSWMDKGLGSQNEVKEEESRPGTYGMLSSLTEEHDSIEEEEEEEEDGEKPKRRGPKKK
  KMTKARLERFRARRVKANARERTRMHGLNDALDNLRRVMPCYSKTQKLSKIETLRLARNYIWALSEVLETGQTPE
  GKGFVEMLCKGLSQPTSNLVAGCLQLGPQSVLLEKHEDKSPICDSAISVHNFNYQSPGLPSPPYGHMETHLLHLK
  PQVFKSLGESSFGSHLPDCSTPPYEGPLTPPLSISGNFSLKQDGSPDLEKSYSFMPHYPSSSLSSGHVHSTPFQA
  GTPRYDVPIDMSYDSYPHHGIGTQLNTVFTE

• Structural information:
  • Protein Domains: (87..13-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981"-)
  • Interpro: IPR011598  IPR036638  IPR032651  IPR022575  IPR016637  
  • Prosite: PS50888
  • CDD: cd00083
  • STRING: ENSP00000242994
• Other Databases: GeneCards:  NEUROD4  Malacards:  NEUROD4

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:0045597	positive regulation of cell differentiation	ISS	biological process
GO:0035881	amacrine cell differentiation	ISS	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0048666	neuron development	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0007399	nervous system development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045597	positive regulation of cell differentiation	IEA	biological process
GO:0045165	cell fate commitment	IEA	biological process
GO:0043010	camera-type eye development	IEA	biological process
GO:0035881	amacrine cell differentiation	IEA	biological process
GO:0007405	neuroblast proliferation	IEA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0001764	neuron migration	IEA	biological process
GO:0060041	retina development in camera-type eye	IEA	biological process
GO:0045597	positive regulation of cell differentiation	IEA	biological process
GO:0048666	neuron development	IEA	biological process
GO:0010001	glial cell differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process

Diseases

Associated diseases	References
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)