Disease-gene associations mined from literature

Literature associating ATP2A2 and keratosis

ATP2A2 [ENSP00000440045]

Calcium-transporting ATPase sarcoplasmic reticulum type, slow twitch skeletal muscle isoform; This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen. Isoform 2 is involved in the regulation of the contraction/relaxation cycle. Acts as a regulator of TNFSF11-mediated Ca(2+) signaling pathways via its interaction with TMEM64 which is critical for the TNFSF11- induced CREB1 activation and mitochondrial ROS generation necessary for proper osteoclast generation. Association between TMEM64 and SERCA2 in the ER leads to cytosolic Ca (2+) spiking for activation of NFATC1 and production of mitochondrial ROS, thereby triggering Ca (2+) signaling cascades that promote osteoclast differentiation and activation (By similarity); ATPases Ca2+ transporting

Synonyms:  ATP2A2,  ATP2A2p,  hATP2A2,  F8W1Z7,  J3QSY6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM