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Gene Gene information from NCBI Gene database.
Entrez ID 2564
Gene name Gamma-aminobutyric acid type A receptor subunit epsilon
Gene symbol GABRE
Synonyms (NCBI Gene)
-
Chromosome X
Chromosome location Xq28
Summary The product of this gene belongs to the ligand-gated ionic channel (TC 1.A.9) family. It encodes the gamma-aminobutyric acid (GABA) A receptor which is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the centr
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs998297769 G>T Pathogenic Coding sequence variant, intron variant, stop gained, upstream transcript variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
271 Show/Hide all (271)
miRTarBase ID miRNA Experiments Reference
MIRT027440 hsa-miR-98-5p Microarray 19088304
MIRT028956 hsa-miR-26b-5p Microarray 19088304
MIRT1010005 hsa-miR-1250 CLIP-seq
MIRT1010006 hsa-miR-1304 CLIP-seq
MIRT1010007 hsa-miR-146a CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28 Show/Hide all (28)
GO ID Ontology Definition Evidence Reference
GO:0004888 Function Transmembrane signaling receptor activity IEA
GO:0004890 Function GABA-A receptor activity IDA 9882711, 16412217
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
300093 4085 ENSG00000102287
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P78334
Protein name Gamma-aminobutyric acid receptor subunit epsilon (GABA(A) receptor subunit epsilon) (GABAAR subunit epsilon)
Protein function Epsilon subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:16412217, PubMed:9882711). GABA-gated chloride channels, also named GABA(A) r
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02931 Neur_chan_LBD 71 → 277 Neurotransmitter-gated ion-channel ligand binding domain Family
PF02932 Neur_chan_memb 284 → 500 Neurotransmitter-gated ion-channel transmembrane region Family
Tissue specificity TISSUE SPECIFICITY: Expressed in many tissues (PubMed:9339354). Highest levels of expression in adult heart and placenta (PubMed:9084408, PubMed:9339354, PubMed:9882711). {ECO:0000269|PubMed:9084408, ECO:0000269|PubMed:9339354, ECO:0000269|PubMed:9882711}
Sequence
Sequence length 506
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway
Neuroactive ligand-receptor interaction
Retrograde endocannabinoid signaling
GABAergic synapse
Morphine addiction
Nicotine addiction
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Short stature Pathogenic rs998297769 RCV000736187
★★★★★
★★★★☆
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 Reference Evidence Score
GABRE-related disorder Uncertain significance; Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GABRE-related epilepsy Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Lung cancer Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (11)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 32325953 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic lateral sclerosis 1 Amyotrophic lateral sclerosis Pubtator 32325953 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy Pubtator 28074849, 32588540 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Essential Tremor Tremor BEFREE 21422964
★★★★★
★☆☆☆☆
Found in Text Mining only
Kidney Neoplasm Kidney Neoplasm BEFREE 24440748
★★★★★
★☆☆☆☆
Found in Text Mining only
Leiomyoma Leiomyoma Pubtator 21685710 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of prostate Prostate cancer BEFREE 24737792
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 24737792
★★★★★
★☆☆☆☆
Found in Text Mining only
Migraine Disorders Migraine Pubtator 19087248, 34126933 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Prostate carcinoma Prostate cancer BEFREE 24737792
★★★★★
★☆☆☆☆
Found in Text Mining only