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FLASH GENE
Symbol CASP12 contributors: shn - updated : 17-11-2009
HGNC name caspase 12 (gene/pseudogene)
HGNC id 19004
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies ortholog to Casp12, Rattus norvegicus
ortholog to Casp12, Mus musculus
homolog to LOC466766, Pan troglodytes
Homologene
FAMILY
CATEGORY immunity/defense
SUBCELLULAR LOCALIZATION
basic FUNCTION
  • essential for this endoplastic reticulum stress-induced apoptosis
  • a mediator of apoptosis induced by endoplasmic reticulum stress including amyloid-beta cytotoxicity, and might contribute to the pathogenesis of Alzheimer's disease (Saleh 2004)
  • attenuates the inflammatory and innate immune response to endotoxins (Saleh 2004)
  • seems to be the cFLIP (CASP8 and FADD-like apoptosis regulator) counterpart for regulating the inflammatory branch of the caspase cascade (Saleh 2006)
  • involved in apoptosis in retinal degeneration in rd1 mouse, an animal model of retinitis pigmentosa (Sanges 2006)
  • modulates inflammatory responses n human retinal pigment epithelial cells (Bian 2008)
    • CELLULAR PROCESS cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS inflammation
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • TNF receptor-associated factor 2 (TRAF2)
  • heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) (HSPA5 also known as GRP78)
    • cell & other
    REGULATION
    activated by TRAF2 (tumor necrosis factor receptor-associated factor 2)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       gain of function
    with HSPA5 were upregulated in cardiomyocytes in the diastolic heart failure resulting from hypertension )
    Susceptibility
  • may constitute a risk factor for developing sepsis (Saleh 2004)
    • Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • caspase-12 deficiency mouse exhibits enhanced vulnerability to bacterial infection and septic mortality (Saleh 2006)