Gene
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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
EIG10, 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.
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.
GO ID Ontology Definition Evidence Reference
GO:0004890 Function GABA-A receptor activity IBA 21873635
GO:0005230 Function Extracellular ligand-gated ion channel activity IEA
GO:0005254 Function Chloride channel activity IBA 21873635
GO:0005515 Function Protein binding IPI 16189514, 25416956, 32296183
GO:0005887 Component Integral component of plasma membrane IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
137163 4084 ENSG00000187730
Protein
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.
  KEGG  
  Neuroactive ligand-receptor interaction
Retrograde endocannabinoid signaling
GABAergic synapse
Morphine addiction
Nicotine addiction
 
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Autism Autistic Disorder, Autistic behavior rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852
View all (22 more)
Cardiomyopathy Cardiomyopathy, Dilated rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377
View all (900 more)
Unknown
Disease term Disease name Evidence References Source
Neurodevelopmental Disorders complex neurodevelopmental disorder GenCC
Associations from Text Mining
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