ASCL5 Gene

HGNC Family Basic helix-loop-helix proteins (BHLH)
Name achaete-scute family bHLH transcription factor 5
Description Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. Predicted to be part of RNA polymerase II transcription regulator complex. [provided by Alliance of Genome Resources, Mar 2025]
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n ASCL5 is a member of the achaete‐scute family of basic helix–loop–helix transcription factors that appears to have multifaceted roles in both normal development and disease. On one hand, studies of the ASCL gene family have revealed that altered ASCL5 expression is associated with cancer, as low ASCL5 levels have been observed in several brain cancer subtypes and the gene has been identified as a novel candidate driver in lung adenocarcinoma, suggesting a potential contribution to tumorigenesis and the regulation of cell identity."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " On the other hand, a tooth-specific basic helix–loop–helix factor, AmeloD, has been identified as a homologue of ASCL5; AmeloD is uniquely expressed in the inner enamel epithelium where it suppresses transcription of the epithelial adhesion molecule E-cadherin, implying a significant role in controlling epithelial cell differentiation during tooth development."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Collectively, these findings suggest that ASCL5 and its related factors contribute to the modulation of differentiation processes and cell–cell adhesion in development as well as influence oncogenic pathways, making them promising targets for further research in both developmental biology and cancer therapeutics.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Chih-Yang Wang, Payam Shahi, John Ting Wei Huang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Systematic analysis of the achaete-scute complex-like gene signature in clinical cancer patients."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Clin Oncol (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3892/mco.2016.1094"}], "href": "https://doi.org/10.3892/mco.2016.1094"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28123722"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28123722"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Zhi-Hong Xu, Hui Wang, Xiao-Yang Ji, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A detrimental mutation on USP40 unlocks the tumorigenesis in a rare case of lung cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Clin Exp Pathol (2019)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31933881"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31933881"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "B He, Y Chiba, H Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of the Novel Tooth-Specific Transcription Factor AmeloD."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Dent Res (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1177/0022034518808254"}], "href": "https://doi.org/10.1177/0022034518808254"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30426815"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30426815"}]}]}]}
Synonyms BHLHA47
Proteins ASCL5_HUMAN
NCBI Gene ID 647219
API
Download Associations
Predicted Functions View ASCL5's ARCHS4 Predicted Functions.
Co-expressed Genes View ASCL5's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View ASCL5's ARCHS4 Predicted Functions.

Functional Associations

ASCL5 has 921 functional associations with biological entities spanning 7 categories (molecular profile, functional term, phrase or reference, disease, phenotype or trait, chemical, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 37 datasets.

Click the + buttons to view associations for ASCL5 from the datasets below.

If available, associations are ranked by standardized value

Dataset Summary
Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles tissues with high or low expression of ASCL5 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles tissue samples with high or low expression of ASCL5 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles tissues with high or low expression of ASCL5 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
CCLE Cell Line Gene CNV Profiles cell lines with high or low copy number of ASCL5 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
ChEA Transcription Factor Targets 2022 transcription factors binding the promoter of ASCL5 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores 2025 cellular components containing ASCL5 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 cellular components co-occuring with ASCL5 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
COSMIC Cell Line Gene CNV Profiles cell lines with high or low copy number of ASCL5 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
DepMap CRISPR Gene Dependency cell lines with fitness changed by ASCL5 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
DISEASES Experimental Gene-Disease Association Evidence Scores 2025 diseases associated with ASCL5 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 diseases co-occuring with ASCL5 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
ENCODE Histone Modification Site Profiles histone modification site profiles with high histone modification abundance at ASCL5 gene from the ENCODE Histone Modification Site Profiles dataset.
ENCODE Transcription Factor Binding Site Profiles transcription factor binding site profiles with transcription factor binding evidence at the promoter of ASCL5 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
ENCODE Transcription Factor Targets transcription factors binding the promoter of ASCL5 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
GEO Signatures of Differentially Expressed Genes for Gene Perturbations gene perturbations changing expression of ASCL5 gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
GO Biological Process Annotations 2023 biological processes involving ASCL5 gene from the curated GO Biological Process Annotations 2023 dataset.
GO Biological Process Annotations 2025 biological processes involving ASCL5 gene from the curated GO Biological Process Annotations2025 dataset.
GO Molecular Function Annotations 2023 molecular functions performed by ASCL5 gene from the curated GO Molecular Function Annotations 2023 dataset.
GO Molecular Function Annotations 2025 molecular functions performed by ASCL5 gene from the curated GO Molecular Function Annotations 2025 dataset.
GTEx eQTL 2025 SNPs regulating expression of ASCL5 gene from the GTEx eQTL 2025 dataset.
GTEx Tissue Gene Expression Profiles tissues with high or low expression of ASCL5 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset.
GTEx Tissue Gene Expression Profiles 2023 tissues with high or low expression of ASCL5 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset.
GTEx Tissue Sample Gene Expression Profiles tissue samples with high or low expression of ASCL5 gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset.
GWAS Catalog SNP-Phenotype Associations 2025 phenotypes associated with ASCL5 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
HPA Cell Line Gene Expression Profiles cell lines with high or low expression of ASCL5 gene relative to other cell lines from the HPA Cell Line Gene Expression Profiles dataset.
HPA Tissue Gene Expression Profiles tissues with high or low expression of ASCL5 gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset.
HPA Tissue Sample Gene Expression Profiles tissue samples with high or low expression of ASCL5 gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset.
IMPC Knockout Mouse Phenotypes phenotypes of mice caused by ASCL5 gene knockout from the IMPC Knockout Mouse Phenotypes dataset.
JASPAR Predicted Human Transcription Factor Targets 2025 transcription factors regulating expression of ASCL5 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset.
JASPAR Predicted Mouse Transcription Factor Targets 2025 transcription factors regulating expression of ASCL5 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset.
MGI Mouse Phenotype Associations 2023 phenotypes of transgenic mice caused by ASCL5 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset.
MotifMap Predicted Transcription Factor Targets transcription factors regulating expression of ASCL5 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset.
PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations gene perturbations changing expression of ASCL5 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles cell types and tissues with high or low DNA methylation of ASCL5 gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of ASCL5 gene from the RummaGEO Drug Perturbation Signatures dataset.
RummaGEO Gene Perturbation Signatures gene perturbations changing expression of ASCL5 gene from the RummaGEO Gene Perturbation Signatures dataset.
TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 tissues co-occuring with ASCL5 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.