• Gene id: 63974

Gene Summary

• Gene Symbol: NEUROD6   Gene   UCSC   Ensembl
• Aliases: Atoh2, MATH2, Math-2, NEX1M, Nex1, bHLHa2
• Gene name: neuronal differentiation 6
• Alternate names: neurogenic differentiation factor 6, brain my051 protein, class A basic helix-loop-helix protein 2, protein atonal homolog 2,
• Gene location: 7p14.3 (75667201: 75626844)     Exons: 23     NC_000017.11
• Gene summary(Entrez): This gene is a member of the NEUROD family of basic helix-loop-helix transcription factors. The encoded protein may be involved in the development and differentiation of the nervous system. [provided by RefSeq, Nov 2012]
• OMIM: 611513

Protein Summary

• Protein general information: Q96NK8  
  • Name: Neurogenic differentiation factor 6 (NeuroD6) (Class A basic helix loop helix protein 2) (bHLHa2) (Protein atonal homolog 2)
  • Length: 337  
  • Mass: 38705
• Sequence:

  MLTLPFDESVVMPESQMCRKFSRECEDQKQIKKPESFSKQIVLRGKSIKRAPGEETEKEEEEEDREEEDENGLPR
  RRGLRKKKTTKLRLERVKFRRQEANARERNRMHGLNDALDNLRKVVPCYSKTQKLSKIETLRLAKNYIWALSEIL
  RIGKRPDLLTFVQNLCKGLSQPTTNLVAGCLQLNARSFLMGQGGEAAHHTRSPYSTFYPPYHSPELTTPPGHGTL
  DNSKSMKPYNYCSAYESFYESTSPECASPQFEGPLSPPPINYNGIFSLKQEETLDYGKNYNYGMHYCAVPPRGPL
  GQGAMFRLPTDSHFPYDLHLRSQSLTMQDELNAVFHN

• Structural information:
  • Protein Domains: (94..14-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981"-)
  • Interpro: IPR011598  IPR036638  IPR032650  IPR022575  IPR016637  
  • Prosite: PS50888
  • CDD: cd00083
  • STRING: ENSP00000297142
• Other Databases: GeneCards:  NEUROD6  Malacards:  NEUROD6

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: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:0030154	cell differentiation	IEA	biological process
GO:0007399	nervous system development	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:0021542	dentate gyrus development	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:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray