DISEASES

Disease-gene associations mined from literature

Literature associating CAMK2G and autistic disorder

CAMK2G [ENSP00000319060]

Calcium/calmodulin-dependent protein kinase type II subunit gamma; Calcium/calmodulin-dependent protein kinase that functions autonomously after Ca(2+)/calmodulin-binding and autophosphorylation, and is involved in sarcoplasmic reticulum Ca(2+) transport in skeletal muscle and may function in dendritic spine and synapse formation and neuronal plasticity. In slow-twitch muscles, is involved in regulation of sarcoplasmic reticulum (SR) Ca(2+) transport and in fast-twitch muscle participates in the control of Ca(2+) release from the SR through phosphorylation of the ryanodine receptor-coupling factor triadin. In the central nervous system, it is involved in the regulation of neurite formation and arborization . It may participate in the promotion of dendritic spine and synapse formation and maintenance of synaptic plasticity which enables long- term potentiation (LTP) and hippocampus-dependent learning.

Synonyms:  CAMK2G,  CAMK2Gp,  hCAMK2G,  A0A2Q3DQE3,  H0Y6G2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM