Disease-gene associations mined from literature

Literature associating STIM2 and amelogenesis imperfecta type 3A

STIM2 [ENSP00000417569]

Stromal interaction molecule 2; Plays a role in mediating store-operated Ca(2+) entry (SOCE), a Ca(2+) influx following depletion of intracellular Ca(2+) stores. Functions as a highly sensitive Ca(2+) sensor in the endoplasmic reticulum which activates both store-operated and store-independent Ca(2+)-influx. Regulates basal cytosolic and endoplasmic reticulum Ca(2+) concentrations. Upon mild variations of the endoplasmic reticulum Ca(2+) concentration, translocates from the endoplasmic reticulum to the plasma membrane where it probably activates the Ca(2+) release-activated Ca(2+) (CRAC) channels ORAI1, ORAI2 and ORAI3. May inhibit STIM1-mediated Ca(2+) influx; Sterile alpha motif domain containing

Synonyms:  STIM2,  STIM2p,  hSTIM2,  A6H8L7,  B7ZVY0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM