DISEASES

Disease-gene associations mined from literature

Literature associating GRIN2A and alpha thalassemia-intellectual disability syndrome type 1

GRIN2A [ENSP00000379818]

Glutamate receptor, ionotropic, N-methyl D-aspartate 2A; Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+). Sensitivity to glutamate and channel kinetics depend on the subunit composition; channels containing GRIN1 and GRIN2A have higher sensitivity to glutamate and faster kinetics than channels formed by GRIN1 and GRIN2B. Contributes to the slow phase of excitatory postsynaptic current, long-term synaptic potentiation, and learning (By similarity); Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR2A/GRIN2A subfamily.

Synonyms:  GRIN2A,  GRIN2Ap,  hGRIN2A,  F5GZ52,  NR2A ...

Linkouts:  STRING  Pharos  UniProt