Disease-gene associations mined from literature

Literature associating SHANK2 and childhood disintegrative disease

SHANK2 [ENSP00000469689]

SH3 and multiple ankyrin repeat domains protein 2; Seems to be an adapter protein in the postsynaptic density (PSD) of excitatory synapses that interconnects receptors of the postsynaptic membrane including NMDA-type and metabotropic glutamate receptors, and the actin-based cytoskeleton. May play a role in the structural and functional organization of the dendritic spine and synaptic junction; Belongs to the SHANK family.

Synonyms:  SHANK2,  SHANK2p,  hSHANK2,  B7ZKU9,  C0SPH0 ...

Linkouts:  STRING  Pharos  UniProt