| Symbol
| ITPR2
| contributors: mct/npt - updated : 25-05-2016
|
| HGNC name
| inositol 1,4,5-triphosphate receptor, type 2
|
| HGNC id
| 6181
|
| corresponding disease(s)
|
IANHI
|
| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein 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
|
|
| System | Type | Disorder | Pubmed |
|---|
| dermatology | skin | | |
| specific ITPR2 inhibitors have the potential to reduce sweat production in hyperhidrosis |
| | |
|
| 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 |