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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ASCL2
achaete-scute family bHLH transcription factor 2
Chromosome 11 · 11p15.5
NCBI Gene: 430Ensembl: ENSG00000183734.5HGNC: HGNC:739UniProt: Q99929
46PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA polymerase II cis-regulatory region sequence-specific DNA bindingE-box bindingnucleuscytoplasmallergic rhinitisrespiratory system diseaseAbnormal thrombosisallergic disease
✦AI Summary

ASCL2 is a basic helix-loop-helix transcription factor that functions as a critical regulator of stem cell maintenance and lineage differentiation across multiple tissues. As a DNA-binding protein, ASCL2 recognizes E-box motifs and likely operates as a heterodimer with other bHLH proteins, potentially functioning as a pioneer transcription factor to remodel chr11 accessibility 1. In intestinal crypts, ASCL2 is required for intestinal stem cell (ISC) renewal, working synergistically with TCF4/β-catenin signaling to maintain stem cell characteristics and activate target genes including SOX9 2. ASCL2 expression serves as a marker of stem-like cancer cells with metastatic potential; high ASCL2-expressing cells in colorectal cancer correlate with organ-specific metastasis capacity 3. During neuroendocrine trans-differentiation in prostate cancer, ASCL2 defines a distinct lineage separate from ASCL1-expressing cells, suggesting lineage-specific transcriptional control 4. In small cell lung cancer variants, ASCL2 functions as a dependency in POU2F3-expressing tuft cell-like tumors 5. ASCL2 is also essential for trophoblast development; as an upstream regulator of extravillous trophoblast specification, ASCL2 expression links to pregnancy outcomes 6. Mechanistically, the chr11 regulator HMGA1 directly induces ASCL2 expression through histone mark recruitment, establishing ASCL2 as a critical node in Wnt-driven colon tumorigenesis 1. These findings position ASCL2 as a master regulator of stemness, differentiation, and cancer phenotypes.

Sources cited
1
HMGA1 opens chromatin to upregulate ASCL2; HMGA1 directly induces ASCL2 by recruiting activating histone marks in colon cancer cells; ASCL2 is upregulated in human colorectal cancer
PMID: 39895630
2
ASCL2 is a marker of Lgr5+ stem cells; fatty acid oxidation is required for renewal of ISCs; ASCL2 mRNA levels are downregulated when fatty acid oxidation is inhibited
PMID: 31759926
3
High ASCL2 expression identifies stem-like cell clusters with metastatic capacity in colorectal cancer; these cells show organ-specific metastatic preferences
PMID: 38050068
4
ASCL2 and ASCL1 define mutually exclusive lineages during neuroendocrine trans-differentiation in prostate cancer; TFAP4 and ASCL1/2 feedback regulate their expression
PMID: 37995683
5
ASCL2 is a lineage transcription factor and dependency in POU2F3-expressing variant small cell lung cancer; SCLC tumors can be classified into three lineages based on POU2F3, ASCL1, or NEUROD1 expression
PMID: 29945888
6
EPAS1 is an upstream regulator of ASCL2 during extravillous trophoblast cell development; ASCL2 links to pregnancy loss and birth weight outcomes
PMID: 37563143
7
ASCL2 is a representative β-catenin target gene involved in Wnt signaling pathways
PMID: 29786110
8
ASCL2 is located at human chromosome 11p15.5 in an imprinting cluster region; the human ASCL2 gene escapes genomic imprinting
PMID: 12099555
Disease Associationsⓘ20
allergic rhinitisOpen Targets
0.34Weak
respiratory system diseaseOpen Targets
0.32Weak
Abnormal thrombosisOpen Targets
0.31Weak
allergic diseaseOpen Targets
0.31Weak
Eczematoid dermatitisOpen Targets
0.28Weak
diabetes mellitusOpen Targets
0.27Weak
type 2 diabetes mellitusOpen Targets
0.21Weak
chronic lymphocytic leukemiaOpen Targets
0.14Weak
neurodegenerative diseaseOpen Targets
0.14Weak
lymphoid neoplasmOpen Targets
0.13Weak
diabetic neuropathyOpen Targets
0.12Weak
colorectal carcinomaOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
gastric cancerOpen Targets
0.08Suggestive
lymphoid leukemiaOpen Targets
0.08Suggestive
gastric adenocarcinomaOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
gliomaOpen Targets
0.07Suggestive
colon carcinomaOpen Targets
0.07Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CDKN1CProtein interaction92%PHLDA2Protein interaction90%IGF2Protein interaction82%TSSC4Protein interaction82%LGR5Protein interaction82%KCNQ1Protein interaction81%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
94%
Liver
40%
Lung
25%
Ovary
5%
Heart
0%
Gene Interaction Network
Click a node to explore
ASCL2CDKN1CPHLDA2IGF2TSSC4LGR5KCNQ1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q99929
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.96LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF2.15 [0.92–1.96]
RankingsWhere ASCL2 stands among ~20K protein-coding genes
  • #9,303of 20,598
    Most Researched46
  • #17,752of 17,882
    Most Constrained (LOEUF)1.96
Genes detectedASCL2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Single-cell transcriptomic analysis deciphers heterogenous cancer stem-like cells in colorectal cancer and their organ-specific metastasis.
PMID: 38050068
Gut · 2024
1.00
2
Multi‑layered prevention and treatment of chronic inflammation, organ fibrosis and cancer associated with canonical WNT/β‑catenin signaling activation (Review).
PMID: 29786110
Int J Mol Med · 2018
0.90
3
HNF4 Regulates Fatty Acid Oxidation and Is Required for Renewal of Intestinal Stem Cells in Mice.
PMID: 31759926
Gastroenterology · 2020
0.80
4
Temporal evolution reveals bifurcated lineages in aggressive neuroendocrine small cell prostate cancer trans-differentiation.
PMID: 37995683
Cancer Cell · 2023
0.70
5
POU2F3 is a master regulator of a tuft cell-like variant of small cell lung cancer.
PMID: 29945888
Genes Dev · 2018
0.60