GLRA2

Chr Xp22.2

glycine receptor alpha 2

MANE:: ENST00000218075.9

OMIM: 305990 ↗NCBI: 2742 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

GLRA2 · P23416

v62025-08-01

Predicted Aligned Error matrix for GLRA2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

83.8/ 100

Confident

452 residues

Confidence breakdown

Very high(≥ 90)63%
Confident(70–90)19%
Low(50–70)6%
Very low(< 50)12%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Disease associations (Open Targets)

intellectual developmental disorder, X-linked, syndromic, Pilorge type
0.78
neurodegenerative disease
0.34
hereditary disease
0.19
autoimmune disorder of central nervous system
0.14
myopia
0.12
Rolandic epilepsy
0.09
juvenile myoclonic epilepsy
0.09
Lennox-Gastaut syndrome
0.08
benign adult familial myoclonic epilepsy
0.08
autism
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Glycine receptor subunit alpha-2

Subunit of heteromeric glycine-gated chloride channels (PubMed:15302677, PubMed:16144831, PubMed:2155780, PubMed:23895467, PubMed:25445488, PubMed:26370147, PubMed:34473954). Plays a role in synaptic plasticity (By similarity). Contributes to the generation of inhibitory postsynaptic currents, and is involved in the down-regulation of neuronal excitability (PubMed:25445488). Plays a role in cellular responses to ethanol (PubMed:23895467)