Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID	56676
Gene name	Achaete-scute family bHLH transcription factor 3
Gene symbol	ASCL3
Synonyms (NCBI Gene)	HASH3SGN1bHLHa42
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]

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

MIM	HGNC	e!Ensembl
609154	740	ENSG00000176009

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

Interactions

View interactions

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)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
OTOSCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

ASCL3 (achaete-scute family bHLH transcription factor 3)