Gene Gene information from NCBI Gene database.
Entrez ID 2557
Gene name Gamma-aminobutyric acid type A receptor subunit alpha4
Gene symbol GABRA4
Synonyms (NCBI Gene)
-
Chromosome 4
Chromosome location 4p12
Summary 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
miRNA miRNA information provided by mirtarbase database.
218
miRTarBase ID miRNA Experiments Reference
MIRT658015 hsa-miR-3529-3p HITS-CLIP 23824327
MIRT658018 hsa-miR-548aa HITS-CLIP 23824327
MIRT658017 hsa-miR-548ap-3p HITS-CLIP 23824327
MIRT658016 hsa-miR-548t-3p HITS-CLIP 23824327
MIRT658015 hsa-miR-3529-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
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:0005216 Function Monoatomic ion channel activity IEA
GO:0005230 Function Extracellular ligand-gated monoatomic ion channel activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
137141 4078 ENSG00000109158
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P48169
Protein name Gamma-aminobutyric acid receptor subunit alpha-4 (GABA(A) receptor subunit alpha-4) (GABAAR subunit alpha-4)
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:35355020). GABA-gated chloride channels, also named GABA(A) receptors (GABAAR),
PDB 7QN5 , 7QN7 , 7QN9 , 7QNA , 7QNC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02931 Neur_chan_LBD 48 256 Neurotransmitter-gated ion-channel ligand binding domain Family
PF02932 Neur_chan_memb 263 538 Neurotransmitter-gated ion-channel transmembrane region Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the brain. {ECO:0000250|UniProtKB:Q9D6F4}.
Sequence
Sequence length 554
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATAXIA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Autism Spectrum Disorder Associate 29151244
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Associate 16080114, 16770606, 20066485, 25124326
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Associate 19078961
★☆☆☆☆
Found in Text Mining only
Cell Transformation Neoplastic Associate 24553397
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 32453965
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Associate 35152403
★☆☆☆☆
Found in Text Mining only
Drug Resistant Epilepsy Associate 35152403
★☆☆☆☆
Found in Text Mining only
Epilepsy Associate 17124266, 35152403
★☆☆☆☆
Found in Text Mining only
Fabry Disease Associate 40233852
★☆☆☆☆
Found in Text Mining only
Fetal Alcohol Spectrum Disorders Associate 35152403
★☆☆☆☆
Found in Text Mining only