Alterations in the ATP2A2 gene in correlation with colon and lung cancer

Four novel ATP2A2 mutations in Slovenian patients with Darier disease

“…17 Recent data suggest that the ATP2A2 gene is also correlated with several cancer types in humans. [19][20][21][22] Although squamous cell carcinoma is not common in patients with DD, 7 cases of oral, subungual, vulval, and scrotal squamous carcinoma have been reported in addition to basal cell carcinoma, melanoma, and non-small cell lung cancer [23][24][25][26][27][28][29] ; in the latter case, sequencing of the ATP2A2 gene revealed 3 polymorphisms and one ATP2A2 mutation (R751Q). 20 No DD patient with cancer has been detected in our cohort; however, the majority of patients were younger than 40 years.…”

Full activation of mouse platelets requires ADP secretion regulated by SERCA3 ATPase–dependent calcium stores

“…Mutations in the human ATP2A2 gene affecting SERCA2 lead to Darier syndrome in humans, a dermatological syndrome. 10,11 SERCA mutations are associated with some cancers, [12][13][14] suggesting involvement in cell differentiation. 15 SERCA3 human mutations seem associated with type 2 diabetes.…”

Endoplasmic-Reticulum Calcium Depletion and Disease

“…Mice with a heterozygous deletion of the gene encoding SERCA2 (Liu et al 2001) and some patients with Darier disease (Burge and Wilkinson 1992) develop squamous cell carcinomas. Neoplastic transformation has been linked to a down-regulated SERCA2 (Pacifico et al 2003;Vanoverberghe et al 2004;Bergner et al 2009) or SERCA3 (Gelebart et al 2002;Brouland et al 2005), e.g., by somatic or germ-like mutations or epigenetic mechanisms involving promotor methylation (Endo et al 2004;Korosec et al 2006Korosec et al , 2008. ER Ca 2þ depletion can also result from overexpression of Ca 2þ -release channels.…”

“…[Ca 2þ ] ER is often decreased, making the cell resistant to apoptosis. Subsequent Ca 2þ entry increases [Ca 2þ ] cyt and changes gene expression, DNA repair, and cell-cycle regulation, resulting in cancer development (Korosec et al 2006;Monteith et al 2007;Lipskaia et al 2009). …”