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FLASH GENE
Symbol CASP2 contributors: mct - updated : 19-03-2015
HGNC name caspase 2, apoptosis-related cysteine peptidase
HGNC id 1503
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral        
results in an increased ability of cells to acquire a transformed phenotype and become malignant, indicating that it is a tumor suppressor
constitutional       loss of function
promotes aberrant DNA-damage response and genetic instability, leading to defective TP53-mediated signalling and decreased trans-activation of TP53 target genes upon DNA damage
constitutional       loss of function
may play a role in promoting marrow adiposity under stress or disease conditions, but it is not required for T1-diabetes induced bone loss
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
caspase-2(-/-) mouse embryonic fibroblasts (MEFs) show increased proliferation