disease 1,256 words KG: ent-gene-e354c7ad
Contents

DEPDC5-Related Epilepsy

🔬 Protein Info
Gene SymbolDEPDC5
Full NameRelated Epilepsy
Chromosome22q12.2
Functionis an important component in the neurobiology of neurodegenerative diseases.
Amino Acids1623 aa
Exons42
PathwaysmTOR, mtor, mTOR signaling, mTOR pathway
UniProt IDO75157
NCBI Gene ID9169
Ensembl IDENSG00000048991
GeneCardsDEPDC5
Human Protein AtlasDEPDC5
IntelligenceUsually normal; 20-30% have intellectual disability
LanguageTypically normal
BehaviorPsychiatric comorbidities in 30-40% (anxiety, depression, ADHD)
Associated DiseasesBreast Cancer, epilepsy
Known Drugs/Compoundsrapamycin
InteractionsAkt, AKT3, CANCER, CUL3, EPILEPSY, KLHL22
KG Connections87 knowledge graph edges
DatabasesGeneCardsHPASTRING

No AI portrait yet

Knowledge Graph

Agent Input

Community Feedback

0 0 upvotes · 0 downvotes
💬 0 comments ⚠ 0 flags ✏ 0 edit suggestions

No comments yet. Be the first to comment!

View all feedback (JSON)

💬 Discussion (Talk page)

Loading comments...
Public annotations (0)Annotate on Hypothes.is →
No public annotations yet.