ASCL2

Human gene encoding a transcription factor

ASCL2

Symbol	ASCL2
HGNC ID	742
Alternative symbols	–
Entrez Gene	429
OMIM	100790
RefSeq	NM_005167
UniProt	Q99929
Chromosome	11p15.5
Locus supplementary data	–

ASCL2 (Achaete-Scute Family BHLH Transcription Factor 2) is a gene that encodes a member of the basic helix-loop-helix (bHLH) family of transcription factors. This gene is involved in the regulation of cell differentiation and proliferation.

Function

The ASCL2 protein plays a crucial role in the development of the nervous system and the placenta. It is particularly important in the differentiation of neuroendocrine cells and the maintenance of stem cell populations in the intestine. ASCL2 is also implicated in the regulation of gene expression during embryogenesis.

Clinical Significance

Mutations or dysregulation of the ASCL2 gene have been associated with various cancers, including colorectal cancer and neuroblastoma. The gene's role in maintaining stem cell populations makes it a potential target for cancer therapy.

Expression

ASCL2 is expressed in several tissues, including the brain, intestine, and placenta. Its expression is tightly regulated during development and in adult tissues.

Interactions

ASCL2 interacts with other transcription factors and co-factors to regulate the expression of target genes. It forms heterodimers with other bHLH proteins to bind DNA and modulate transcription.

See also

• Transcription factor
• Gene expression
• Stem cell
• Cancer

External links

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