Gene table of GABRD : gamma-aminobutyric acid type A receptor delta subunit

Gene-disease associations table

Disease IDDisease nameSource of annotation with GABRDOMIM linkNumber of associated genesgenes
PS604233EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUSClinVar, OMIM, HUMSAVAR link to OMIM 6GABRD, STX1B, SCN9A, SCN1A, GABRG2, SCN1B

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Annotation of the gene GABRD

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 pathwayKEGG IDKEGG IC
Morphine addictionhsa050326.15
Nicotine addictionhsa050337.38
Retrograde endocannabinoid signalinghsa047236.03
Neuroactive ligand-receptor interactionhsa040804.58
GABAergic synapsehsa047276.24
Associated REACTOME pathways
Associated GO terms for Molecular function
GO termGO IDGO IC
signaling receptor activityGO:00380232.49
GABA receptor activityGO:00169176.65
molecular transducer activityGO:00600892.32
receptor activityGO:00048722.32
signal transducer activityGO:00048712.28
extracellular ligand-gated ion channel activityGO:00052305.42
anion transmembrane transporter activityGO:00085094.43
ligand-gated ion channel activityGO:00152764.8
transmembrane transporter activityGO:00228572.82
inorganic anion transmembrane transporter activityGO:00151034.87
GABA-A receptor activityGO:00048906.79
anion channel activityGO:00052535.23
chloride channel activityGO:00052545.36
chloride transmembrane transporter activityGO:00151085.24
transporter activityGO:00052152.57
ion channel activityGO:00052163.71
passive transmembrane transporter activityGO:00228033.6
substrate-specific transmembrane transporter activityGO:00228912.9
substrate-specific transporter activityGO:00228922.72
ion transmembrane transporter activityGO:00150753.04
transmembrane signaling receptor activityGO:00048882.57
channel activityGO:00152673.6
gated channel activityGO:00228363.96
protein bindingGO:00055150.46
ligand-gated channel activityGO:00228344.8
substrate-specific channel activityGO:00228383.67
transmembrane receptor activityGO:00996002.53
bindingGO:00054880.18