Gene table of GLRB : glycine receptor beta

Gene-disease associations table

Disease ID	Disease name	Source of annotation with GLRB	OMIM link	Number of associated genes	genes
614619	HYPEREKPLEXIA 2	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	GLRB

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Neuroactive ligand-receptor interaction	hsa04080	4.58

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Ligand-gated ion channel transport	R-HSA-975298	8.28
Ion channel transport	R-HSA-983712	5.34
Transmembrane transport of small molecules	R-HSA-382551	3.79

Associated GO terms for Molecular function

GO term	GO ID	GO IC
drug binding	GO:0008144	5.03
molecular transducer activity	GO:0060089	2.32
binding	GO:0005488	0.18
extracellular-glycine-gated chloride channel activity	GO:0016934	8.13
amino acid binding	GO:0016597	5.71
extracellular-glycine-gated ion channel activity	GO:0016933	8.13
glycine binding	GO:0016594	7.1
anion binding	GO:0043168	4.17
anion transmembrane transporter activity	GO:0008509	4.43
ligand-gated ion channel activity	GO:0015276	4.8
ion binding	GO:0043167	1.36
inorganic anion transmembrane transporter activity	GO:0015103	4.87
passive transmembrane transporter activity	GO:0022803	3.6
anion channel activity	GO:0005253	5.23
chloride channel activity	GO:0005254	5.36
ion channel activity	GO:0005216	3.71
transporter activity	GO:0005215	2.57
extracellular ligand-gated ion channel activity	GO:0005230	5.42
excitatory extracellular ligand-gated ion channel activity	GO:0005231	5.73
inhibitory extracellular ligand-gated ion channel activity	GO:0005237	7.95
substrate-specific transmembrane transporter activity	GO:0022891	2.9
substrate-specific transporter activity	GO:0022892	2.72
carboxylic acid binding	GO:0031406	4.64
chloride transmembrane transporter activity	GO:0015108	5.24
ion transmembrane transporter activity	GO:0015075	3.04
transmembrane transporter activity	GO:0022857	2.82
channel activity	GO:0015267	3.6
gated channel activity	GO:0022836	3.96
protein binding	GO:0005515	0.46
ligand-gated channel activity	GO:0022834	4.8
substrate-specific channel activity	GO:0022838	3.67
transmembrane receptor activity	GO:0099600	2.53
receptor activity	GO:0004872	2.32