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FLASH GENE
Symbol ITPR2 contributors: mct/npt - updated : 25-05-2016
HGNC name inositol 1,4,5-triphosphate receptor, type 2
HGNC id 6181
ASSOCIATED DISORDERS
corresponding disease(s) IANHI
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --over  
expression was greater in the peripheral blood of ALS patients (van Es 2007)
constitutional       loss of function
loss of ITPR2-mediated Ca2+ release causes isolated anhidrosis in humans
constitutional       loss of function
known to mediate endoplasmic reticulum (ER) calcium release, as well as loss of MCU, necessary for mitochondrial calcium uptake, enable escape from oncogene-induced senescence (OIS)
Susceptibility to amyotrophic lateral sclerosis
Variant & Polymorphism variant increasing the risk of ALS (Dupre 2009)
Candidate gene
Marker
  • is a novel biomarker for worse prognosis in cytogenetically normal acute myeloid leukemia
  • Therapy target
    SystemTypeDisorderPubmed
    dermatologyskin 
    specific ITPR2 inhibitors have the potential to reduce sweat production in hyperhidrosis
    ANIMAL & CELL MODELS
  • Itpr2-/- mice exhibited a marked reduction in sweat secretion, and evaluation of sweat glands from Itpr2-/- animals revealed a decrease in Ca2+ response compared with controls