GRIA2

From WikiMD's medical encyclopedia

GRIA2 is a gene that encodes the GluR2 subunit of the AMPA receptor, a type of ionotropic glutamate receptor in the human body. The AMPA receptor is a non-NMDA-type ionotropic transmembrane receptor for glutamate that mediates fast synaptic transmission in the central nervous system (CNS). Its name is derived from its ability to be activated by the artificial glutamate analog AMPA.

Structure

The GRIA2 gene is located on the long (q) arm of chromosome 4 at position 32.1. The encoded protein, GluR2, is 883 amino acids long, with a molecular weight of approximately 99 kDa. The protein is composed of an extracellular N-terminus, a transmembrane domain, and an intracellular C-terminus.

Function

The GluR2 subunit, encoded by the GRIA2 gene, is critical for controlling the calcium permeability of AMPA receptors. When present, GluR2 makes the AMPA receptor impermeable to calcium ions (Ca2+), which is crucial for normal brain function and preventing excitotoxicity.

Clinical significance

Mutations in the GRIA2 gene have been associated with a variety of neurological and psychiatric disorders, including schizophrenia, bipolar disorder, major depressive disorder, and autism spectrum disorder.

Research

Research into the GRIA2 gene and its encoded protein, GluR2, continues to be a significant focus in neuroscience, particularly in understanding the molecular mechanisms underlying synaptic plasticity and neurological disorders.


{{Navbox | name = Genes on human chromosome 4 | title = Genes on human chromosome 4 | listclass = hlist

| group1 = Locus 4p16.3 | list1 =

| group2 = Locus 4q21-q22 | list2 =

| group3 = Locus 4q25 | list3 =

| group4 = Locus 4q28.3 | list4 =

| group5 = Locus 4q31.21 | list5 =

| group6 = Locus 4q32-q35 | list6 =

| group7 = Other notable genes | list7 =



Ionotropic glutamate receptors
Receptor Subtypes
AMPA Receptor Subunits
Kainate Receptor Subunits
NMDA Receptor Subunits
Related Articles
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Contributors: Prab R. Tumpati, MD