Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2556
Gene name Gene Name - the full gene name approved by the HGNC.
Gamma-aminobutyric acid type A receptor subunit alpha3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GABRA3
Synonyms (NCBI Gene) Gene synonyms aliases
EPILX2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
EPILX2
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq28
Summary Summary of gene provided in NCBI Entrez Gene.
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 benzodiazepines that bind to the GA
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT029587 hsa-miR-26b-5p Microarray 19088304
MIRT449687 hsa-miR-5692a PAR-CLIP 22100165
MIRT449686 hsa-miR-1273e PAR-CLIP 22100165
MIRT449687 hsa-miR-5692a PAR-CLIP 22100165
MIRT449686 hsa-miR-1273e PAR-CLIP 22100165
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:0005237 Function Inhibitory extracellular ligand-gated ion channel activity IBA 21873635
GO:0005254 Function Chloride channel activity IBA 21873635
GO:0005515 Function Protein binding IPI 26613940
GO:0005886 Component Plasma membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
305660 4077 ENSG00000011677
Protein
UniProt ID P34903
Protein name Gamma-aminobutyric acid receptor subunit alpha-3 (GABA(A) receptor subunit alpha-3) (GABAAR subunit alpha-3)
Protein function Alpha subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:16412217, PubMed:29053855). GABA-gated chloride channels, also named GABA(A) re
PDB 9CTP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02931 Neur_chan_LBD 67 275 Neurotransmitter-gated ion-channel ligand binding domain Family
PF02932 Neur_chan_memb 282 425 Neurotransmitter-gated ion-channel transmembrane region Family
Sequence
Sequence length 492
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Neuroactive ligand-receptor interaction
Retrograde endocannabinoid signaling
GABAergic synapse
Taste transduction
Morphine addiction
Nicotine addiction
  GABA receptor activation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Atrioventricular block Second degree atrioventricular block rs766840243, rs763809932
Autism Autistic Disorder rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
18821008
Obesity Obesity rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562
View all (27 more)
Ventricular fibrillation Ventricular Fibrillation rs137854604, rs587782933, rs190140598
Unknown
Disease term Disease name Evidence References Source
Mental depression Mental Depression, Depressive disorder 20512339 ClinVar
Thyrotoxic periodic paralysis Thyrotoxic periodic paralysis 17970773 ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Agnosia Associate 38482990
Autism Spectrum Disorder Associate 23169495
Bipolar Disorder Associate 11602034, 38482990
Carcinoma Hepatocellular Associate 19084931
Carcinoma Non Small Cell Lung Associate 23617850
Cognition Disorders Associate 38482990
Fragile X Syndrome Associate 2574000
Inflammation Associate 34174930
Intellectual Disability Associate 38482990
Lung Neoplasms Stimulate 19048400