GLRB

Chr 4q32.1

glycine receptor beta

MANE:: ENST00000264428.9

OMIM: 138492 ↗NCBI: 2743 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

GLRB · P48167

v62025-08-01

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

Mean pLDDT

78.1/ 100

Confident

497 residues

Confidence breakdown

Very high(≥ 90)48%
Confident(70–90)29%
Low(50–70)3%
Very low(< 50)20%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Brain channelopathy
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood
BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders
BIALLELIC, autosomal or pseudoautosomal
Adult onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

hereditary hyperekplexia
0.76
hyperekplexia 2
0.75
Pain
0.55
sedation
0.38
acute respiratory distress syndrome
0.38
Fever
0.37
delirium
0.37
mitral valve disorder
0.32
aortic valve disorder
0.32
placental retention
0.31

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

Protein function (UniProt)

Glycine receptor subunit beta

Subunit of heteromeric glycine-gated chloride channels (PubMed:11929858, PubMed:15302677, PubMed:16144831, PubMed:22715885, PubMed:23238346, PubMed:25445488, PubMed:34473954, PubMed:8717357). Plays an important role in the down-regulation of neuronal excitability (PubMed:11929858, PubMed:23238346). Contributes to the generation of inhibitory postsynaptic currents (PubMed:25445488)