• Gene id: 83463

Gene Summary

• Gene Symbol: MXD3   Gene   UCSC   Ensembl
• Aliases: BHLHC13, MAD3, MYX
• Gene name: MAX dimerization protein 3
• Alternate names: max dimerization protein 3, Max-associated protein 3, Max-interacting transcriptional repressor MAD3, class C basic helix-loop-helix protein 13, max dimerizer 3,
• Gene location: 5q35.3 (177311897: 177305498)     Exons: 7     NC_000005.10
• Gene summary(Entrez): This gene encodes a member of the Myc superfamily of basic helix-loop-helix leucine zipper transcriptional regulators. The encoded protein forms a heterodimer with the cofactor MAX which binds specific E-box DNA motifs in the promoters of target genes and
• OMIM: 606778

Protein Summary

• Protein general information: Q9BW11  
  • Name: Max dimerization protein 3 (Max dimerizer 3) (Class C basic helix loop helix protein 13) (bHLHc13) (Max associated protein 3) (Max interacting transcriptional repressor MAD3) (Myx)
  • Length: 206  
  • Mass: 23477
• Sequence:

  MEPLASNIQVLLQAAEFLERREREAEHGYASLCPHRSPGPIHRRKKRPPQAPGAQDSGRSVHNELEKRRRAQLKR
  CLERLKQQMPLGADCARYTTLSLLRRARMHIQKLEDQEQRARQLKERLRSKQQSLQRQLEQLRGLAGAAERERLR
  ADSLDSSGLSSERSDSDQEELEVDVESLVFGGEAELLRGFVAGQEHSYSHGGGAWL

• Structural information:
  • Protein Domains: (57..10-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981"-)
  • Interpro: IPR011598  IPR036638  
  • Prosite: PS50888
  • CDD: cd00083
  • STRING: ENSP00000401867
• Other Databases: GeneCards:  MXD3  Malacards:  MXD3

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:0046983	protein dimerization activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
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: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:0005515	protein binding	IPI	molecular function
GO:0090575	RNA polymerase II transcription regulator complex	IEA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Male factor infertility	MIK: 29961538

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq