ASCL3 (achaete-scute family bHLH transcription factor 3)

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Gene Gene ontology Other IDs Protein Associated diseases Diseases linked via similar genes

Gene

• Entrez ID: 56676
• Gene name: Achaete-scute family bHLH transcription factor 3
• Gene symbol: ASCL3
• Synonyms (NCBI Gene): HASH3, SGN1, bHLHa42
• Chromosome: 11
• Chromosome location: 11p15.4
• Summary: Basic helix-loop-helix transcription factors, such as ASCL3, 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]

Gene ontology (GO) Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0001894	Process	Tissue homeostasis	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	ISS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IEA
GO:0005667	Component	Transcription regulator complex	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	ISS
GO:0007431	Process	Salivary gland development	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0046983	Function	Protein dimerization activity	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0060429	Process	Epithelium development	IEA
GO:0070654	Process	Sensory epithelium regeneration	IEA
GO:0090575	Component	RNA polymerase II transcription regulator complex	IBA

Other IDs

• MIM: 609154
• HGNC: 740
• e!Ensembl: ENSG00000176009

Protein

• UniProt ID: Q9NQ33
• Protein name: Achaete-scute homolog 3 (ASH-3) (hASH3) (Class A basic helix-loop-helix protein 42) (bHLHa42) (bHLH transcriptional regulator Sgn-1)
• Protein function: Transcriptional repressor. Inhibits myogenesis. Plays a role in progenitor cells which differentiate into ductal and acinar, but not myoepithelial, cell lineages in the salivary glands. Involved in the functions of the microvillar cells and Bowm
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00010	HLH	94 → 145	Helix-loop-helix DNA-binding domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed in fetal and adult tissues. {ECO:0000269|PubMed:15475265}.
• Sequence:

  MDNRGNSSLPDKLPIFPDSARLPLTRSFYLEPMVTFHVHPEAPVSSPYSEELPRLPFPSD
  SLILGNYSEPCPFSFPMPYPNYRGCEYSYGPAFTRKRNERERQRVKCVNEGYAQLRHHLP
  EEYLEKRLSKVETLRAAIKYINYLQSLLYPDKAETKNNPGKVSSMIATTSHHADPMFRIV
  

• Sequence length: 180

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
OTOSCLEROSIS	—	GWAS catalog	36653343	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Genes

No strongly related genes found yet for ASCL3.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to ASCL3.