ASCL4 (achaete-scute family bHLH transcription factor 4)

Gene

• Entrez ID: 121549
• Gene name: Achaete-scute family bHLH transcription factor 4
• Gene symbol: ASCL4
• Synonyms (NCBI Gene): ASH-4, HASH4, bHLHa44
• Chromosome: 12
• Chromosome location: 12q23.3
• Summary: 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]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT802694	hsa-miR-1243	CLIP-seq
MIRT802695	hsa-miR-1255a	CLIP-seq
MIRT802696	hsa-miR-1255b	CLIP-seq
MIRT802697	hsa-miR-1323	CLIP-seq
MIRT802698	hsa-miR-3138	CLIP-seq
MIRT802699	hsa-miR-3177-5p	CLIP-seq
MIRT802700	hsa-miR-3185	CLIP-seq
MIRT802701	hsa-miR-361-3p	CLIP-seq
MIRT802702	hsa-miR-3646	CLIP-seq
MIRT802703	hsa-miR-4302	CLIP-seq
MIRT802704	hsa-miR-494	CLIP-seq
MIRT802705	hsa-miR-548o	CLIP-seq
MIRT802706	hsa-miR-570	CLIP-seq
MIRT802697	hsa-miR-1323	CLIP-seq
MIRT1937030	hsa-miR-377	CLIP-seq
MIRT1937031	hsa-miR-3938	CLIP-seq
MIRT1937032	hsa-miR-4292	CLIP-seq
MIRT1937033	hsa-miR-4308	CLIP-seq
MIRT802705	hsa-miR-548o	CLIP-seq
MIRT1937034	hsa-miR-670	CLIP-seq
MIRT1937035	hsa-miR-767-5p	CLIP-seq

Gene ontology (GO)

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:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005667	Component	Transcription regulator complex	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	NAS	15475265
GO:0043588	Process	Skin development	NAS	15475265
GO:0046983	Function	Protein dimerization activity	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0060429	Process	Epithelium development	IEA
GO:0090575	Component	RNA polymerase II transcription regulator complex	IBA

Other IDs

• MIM: 609155
• HGNC: 24311
• e!Ensembl: ENSG00000187855

Protein

• UniProt ID: Q6XD76
• Protein name: Achaete-scute homolog 4 (ASH-4) (hASH4) (Achaete-scute-like protein 4) (Class A basic helix-loop-helix protein 44) (bHLHa44)
• Protein function: Could be a transcriptional regulator involved in skin development.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00010	HLH	75 → 125	Helix-loop-helix DNA-binding domain	Domain

• Tissue specificity: 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:0000269|PubMed:15475265}.
• Sequence:

  METRKPAERLALPYSLRTAPLGVPGTLPGLPRRDPLRVALRLDAACWEWARSGCARGWQY
  LPVPLDSAFEPAFLRKRNERERQRVRCVNEGYARLRDHLPRELADKRLSKVETLRAAIDY
  IKHLQELLERQAWGLEGAAGAVPQRRAECNSDGESKASSAPSPSSEPEEGGS

• Sequence length: 172

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	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Heart Failure	Heart failure	Pubtator	37672718	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	37672718	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	34406843	Associate	★☆☆☆☆ Found in Text Mining only