STIM2, stromal interaction molecule 2, 57620

N. diseases: 47; N. variants: 14
Disease: Huntington Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.020 AlteredExpression disease BEFREE Unlike the AD setting, in the striatum from Huntington's disease (HD) transgenic mice, an increased STIM2 expression causes elevated synaptic SOCE that was suggested to underlie synaptic loss in medium spiny neurons. 29623030 2018
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.020 AlteredExpression disease BEFREE The overexpression of HAP1A in the human neuroblastoma cell line SK-N-SH (i.e., a cellular model of HD (SK-N-SH HTT138Q)) led to the appearance of a pool of constitutively active SOC channels and an increase in the expression of STIM2 protein. 30455632 2018