• Gene id: 10608

Gene Summary

• Gene Symbol: MXD4   Gene   UCSC   Ensembl
• Aliases: MAD4, MST149, MSTP149, bHLHc12
• Gene name: MAX dimerization protein 4
• Alternate names: max dimerization protein 4, Mad4 homolog, class C basic helix-loop-helix protein 12, max dimerizer 4, max-associated protein 4, max-interacting transcriptional repressor MAD4,
• Gene location: 4p16.3 (2262108: 2247431)     Exons: 6     NC_000004.12
• Gene summary(Entrez): This gene is a member of the MAD gene family . The MAD genes encode basic helix-loop-helix-leucine zipper proteins that heterodimerize with MAX protein, forming a transcriptional repression complex. The MAD proteins compete for MAX binding with MYC, which
• OMIM: 300256

Protein Summary

• Protein general information: Q14582  
  • Name: Max dimerization protein 4 (Max dimerizer 4) (Class C basic helix loop helix protein 12) (bHLHc12) (Max associated protein 4) (Max interacting transcriptional repressor MAD4)
  • Length: 209  
  • Mass: 23528
• Sequence:

  MELNSLLILLEAAEYLERRDREAEHGYASVLPFDGDFAREKTKAAGLVRKAPNNRSSHNELEKHRRAKLRLYLEQ
  LKQLVPLGPDSTRHTTLSLLKRAKVHIKKLEEQDRRALSIKEQLQQEHRFLKRRLEQLSVQSVERVRTDSTGSAV
  STDDSEQEVDIEGMEFGPGELDSVGSSSDADDHYSLQSGTGGDSGFGPHCRRLGRPALS

• Structural information:
  • Protein Domains: (53..10-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981"-)
  • Interpro: IPR011598  IPR036638  
  • Prosite: PS50888
  • CDD: cd00083
  • STRING: ENSP00000337889
• Other Databases: GeneCards:  MXD4  Malacards:  MXD4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003714	transcription corepressor activity	TAS	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	TAS	biological process
GO:0008285	negative regulation of cell population proliferation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
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:0046983	protein dimerization activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003714	transcription corepressor activity	TAS	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	TAS	biological process
GO:0008285	negative regulation of cell population proliferation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
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:0046983	protein dimerization activity	IEA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq