• Gene id: 121549

Gene Summary

• Gene Symbol: ASCL4   Gene   UCSC   Ensembl
• Aliases: HASH4, bHLHa44
• Gene name: achaete-scute family bHLH transcription factor 4
• Alternate names: achaete-scute homolog 4, ASH-4, achaete-scute complex homolog 4, achaete-scute complex-like 4, achaete-scute-like protein 4, class A basic helix-loop-helix protein 44, class II bHLH protein ASCL4,
• Gene location: 12q23.3 (107774384: 107776643)     Exons: 1     NC_000012.12
• Gene summary(Entrez): Basic helix-loop-helix transcription factors, such as ASCL4, are essential for the determination of cell fate and the development and differentiation of numerous tissues (Jonsson et al., 2004 [PubMed 15475265]).[supplied by OMIM, Mar 2008]
• OMIM: 609155

Protein Summary

• Protein general information: Q6XD76  
  • Name: Achaete scute homolog 4 (ASH 4) (hASH4) (Achaete scute like protein 4) (Class A basic helix loop helix protein 44) (bHLHa44)
  • Length: 172  
  • Mass: 19253
  • Tissue specificity: Expressed in skin. 7-fold higher expression in fetal skin than in adult skin. Weak expression also detected in fetal lung, aorta and brain, and in adult stomach, kidney, ovary and breast. {ECO
• Sequence:

  METRKPAERLALPYSLRTAPLGVPGTLPGLPRRDPLRVALRLDAACWEWARSGCARGWQYLPVPLDSAFEPAFLR
  KRNERERQRVRCVNEGYARLRDHLPRELADKRLSKVETLRAAIDYIKHLQELLERQAWGLEGAAGAVPQRRAECN
  SDGESKASSAPSPSSEPEEGGS

• Structural information:
  • Protein Domains: (72..12-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981"-)
  • Interpro: IPR011598  IPR036638  IPR015660  
  • Prosite: PS50888
  • CDD: cd00083
  • STRING: ENSP00000345420
• Other Databases: GeneCards:  ASCL4  Malacards:  ASCL4

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:0003700	DNA-binding transcription factor activity	IBA	contributes to
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0090575	RNA polymerase II transcription regulator complex	IBA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0008134	transcription factor binding	IBA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0003677	DNA binding	IEA	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:0005634	nucleus	IEA	cellular component
GO:0005575	cellular_component	ND	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	NAS	biological process
GO:0043588	skin development	NAS	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)
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)