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. 2018 Mar 14;98(2):919–1053. doi: 10.1152/physrev.00025.2017

Table 2.

Involvement of EPAC proteins in human patient pathologies

Pathology EPAC1 Expression or Mutation EPAC2 Expression or Mutation
Alzheimer’s disease and autism ↑AD: prefrontal cortex/hippocampus (680) ↓AD: prefrontal cortex/hippocampus (680)
↑AD: 3 SNPs (1207)
↑Autism: 4 missense mutations (40, 1044)
Depression SNP (696) ↑Prefrontal cortex/hippocampus of suicide victims (259)
Heart failure ↑Left ventricle (692)
COPD/cigarette smoke ↓Lung tissue (786)
Thyroid malignancies ↑Differentiated (109), undifferentiated (109)
Cancer ↑Gastric cancer (991), breast cancer (567), ↑pancreatic cancer (636)

AD, Alzheimer’s disease; SNP, single nucleotide polymorphism. Reference numbers are in parentheses.