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Disco-interacting protein 2 homolog C (DIP2C)
- Target
- DIP2C
- Molecular classification
- Other
01
Overview
Disco-interacting protein 2 homolog C (DIP2C) is a human protein sharing strong homology with the Drosophila disco-interacting protein 2, which interacts with the transcription factor disco and is expressed in the nervous system. In humans, DIP2C is implicated as a versatile regulator in cancer biology (tumor suppression, DNA methylation, epithelial–mesenchymal transition), neurodevelopment (variants associated with autism, intellectual disability, epilepsy), and cardiovascular function (circRNA form protects endothelial cells), as well as metabolic pathways (uric acid regulation) and environmental responses. While including recurrent somatic mutations in cancer and loss-of-function variants linked to neurodevelopmental disorders, DIP2C does not currently serve as a direct pharmacological target.
- Other names
- DIP2CKIAA0934DIP2 homolog Cdisco-interacting protein 2 homolog C
02
Biological functions
Neurodevelopment (expressed in the nervous system; involved in axonal bifurcation and regeneration in Drosophila, with relevance to human epilepsy and developmental delay)Tumor suppression (frequent mutations/loss linked to cancer)DNA methylation regulation (loss leads to widespread epigenetic and gene expression changes)Cardiovascular protection (circRNA form protects endothelial cells from injury)Metabolic regulation (linked to plasma uric acid levels)Possible involvement in cellular senescence, epithelial–mesenchymal transition, and environmental responsiveness
03
Disease associations
Cancer (recurrent mutations, gene fusions, tumor suppression in breast and skin cancers)Neurodevelopmental disorders (ASD, intellectual disability, developmental delay, epilepsy/seizures)Cardiovascular disease (circDIP2C modulates endothelial response)Other (potential metabolic roles, environmental adaptability)
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