DISEASES

Disease-gene associations mined from literature

Literature on GRAMD2A

GRAMD2A [ENSP00000311657]

GRAM domain-containing protein 2A; Participates in the organization of endoplasmic reticulum- plasma membrane contact sites (EPCS) with pleiotropic functions including STIM1 recruitment and calcium homeostasis. Constitutive tether that co-localize with ESYT2/3 tethers at endoplasmic reticulum- plasma membrane contact sites in a phosphatidylinositol lipid-dependent manner. Pre-marks the subset of phosphtidylinositol 4,5-biphosphate (PI(4,5)P2)-enriched EPCS destined for the store operated calcium entry pathway (SOCE).

Synonyms:  GRAMD2A,  GRAMD2Ap,  hGRAMD2A,  H3BTA1,  H3BTF7 ...

Linkouts:  STRING  Pharos  UniProt