Gene table of GABRG2 : gamma-aminobutyric acid type A receptor gamma2 subunit

Gene-disease associations table

Disease ID	Disease name	Source of annotation with GABRG2	OMIM link	Number of associated genes	genes
607681	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	GABRG2
PS121210	SEIZURES, FAMILIAL FEBRILE	ClinVar, OMIM, HUMSAVAR	link to OMIM	5	SCN1A, ADGRV1, SCN9A, CPA6, GABRG2
PS604233	EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS	ClinVar, OMIM, HUMSAVAR	link to OMIM	6	GABRD, STX1B, SCN9A, SCN1A, GABRG2, SCN1B

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
Morphine addiction	hsa05032	6.15
Nicotine addiction	hsa05033	7.38
Retrograde endocannabinoid signaling	hsa04723	6.03
Neuroactive ligand-receptor interaction	hsa04080	4.58
GABAergic synapse	hsa04727	6.24

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
GABA receptor activation	R-HSA-977443	7.2
Ion channel transport	R-HSA-983712	5.34
Transmembrane transport of small molecules	R-HSA-382551	3.79
Ligand-gated ion channel transport	R-HSA-975298	8.28
GABA A receptor activation	R-HSA-977441	9.28
Neuronal System	R-HSA-112316	4.82
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell	R-HSA-112314	5.85
Transmission across Chemical Synapses	R-HSA-112315	5.28

Associated GO terms for Molecular function

GO term	GO ID	GO IC
signaling receptor activity	GO:0038023	2.49
GABA receptor activity	GO:0016917	6.65
molecular transducer activity	GO:0060089	2.32
receptor activity	GO:0004872	2.32
signal transducer activity	GO:0004871	2.28
benzodiazepine receptor activity	GO:0008503	7.95
extracellular ligand-gated ion channel activity	GO:0005230	5.42
anion transmembrane transporter activity	GO:0008509	4.43
ligand-gated ion channel activity	GO:0015276	4.8
transmembrane transporter activity	GO:0022857	2.82
inorganic anion transmembrane transporter activity	GO:0015103	4.87
GABA-A receptor activity	GO:0004890	6.79
anion channel activity	GO:0005253	5.23
chloride channel activity	GO:0005254	5.36
chloride transmembrane transporter activity	GO:0015108	5.24
neurotransmitter receptor activity	GO:0030594	5.5
transporter activity	GO:0005215	2.57
ion channel activity	GO:0005216	3.71
passive transmembrane transporter activity	GO:0022803	3.6
substrate-specific transmembrane transporter activity	GO:0022891	2.9
substrate-specific transporter activity	GO:0022892	2.72
ion transmembrane transporter activity	GO:0015075	3.04
transmembrane signaling receptor activity	GO:0004888	2.57
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
binding	GO:0005488	0.18