GABRD (gamma-aminobutyric acid type A receptor subunit delta)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2563
Gene name Gene Name - the full gene name approved by the HGNC.
Gamma-aminobutyric acid type A receptor subunit delta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GABRD
Synonyms (NCBI Gene) Gene synonyms aliases
EIG10, EJM7, GABAARdelta, GEFSP5
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.33
Summary Summary of gene provided in NCBI Entrez Gene.
Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiaz
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs41307846 G>A Benign, likely-benign, risk-factor Coding sequence variant, missense variant
rs121434580 A>C Risk-factor Missense variant, coding sequence variant
rs147463074 C>T Conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant
rs368961588 C>T Conflicting-interpretations-of-pathogenicity Intron variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(40)
GO ID Ontology Definition Evidence Reference
GO:0004888 Function Transmembrane signaling receptor activity IEA
GO:0004890 Function GABA-A receptor activity IBA
GO:0004890 Function GABA-A receptor activity IEA
GO:0004890 Function GABA-A receptor activity TAS 2176788
GO:0005216 Function Monoatomic ion channel activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
137163 4084 ENSG00000187730
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O14764
Protein name Gamma-aminobutyric acid receptor subunit delta (GABA(A) receptor subunit delta) (GABAAR subunit delta)
Protein function Delta subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:35355020). GABA-gated chloride channels, also named GABA(A) receptors (GABAAR),
PDB 7QN5 , 7QN6 , 7QN7 , 7QN8 , 7QN9 , 7QNC , 7QND
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02931 Neur_chan_LBD 43 → 247 Neurotransmitter-gated ion-channel ligand binding domain Family
PF02932 Neur_chan_memb 254 → 408 Neurotransmitter-gated ion-channel transmembrane region Family
Sequence
Sequence length 452
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Neuroactive ligand-receptor interaction
Retrograde endocannabinoid signaling
GABAergic synapse
Morphine addiction
Nicotine addiction 		 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (5)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Epilepsy idiopathic generalized epilepsy, Epilepsy, idiopathic generalized, susceptibility to, 10, epilepsy, idiopathic generalized, susceptibility to, 10, epilepsy N/A N/A ClinVar, GenCC
Epileptic encephalopathy epileptic encephalopathy N/A N/A ClinVar
Generalized Epilepsy with Febrile Seizures Plus Generalized epilepsy with febrile seizures plus type 5 N/A N/A ClinVar
Mental retardation intellectual disability N/A N/A ClinVar
Show/Hide Text Mining Associations (24)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adrenocortical Carcinoma Associate 33187258
Autistic Disorder Associate 25124326
Bipolar Disorder Associate 31279243
Breast Neoplasms Associate 34194536
Cleft Palate Associate 34382870
Colonic Neoplasms Stimulate 37181811
Colorectal Neoplasms Associate 32396280
Colorectal Neoplasms Stimulate 34194536
Developmental Disabilities Associate 34633442
Epilepsy Associate 31056551, 34633442, 38458029