GABRE (gamma-aminobutyric acid type A receptor subunit epsilon)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 2564 |
| Gene name | Gamma-aminobutyric acid type A receptor subunit epsilon |
| Gene symbol | GABRE |
| Synonyms (NCBI Gene) |
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| 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 |
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SNPs
SNP information provided by dbSNP.
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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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
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| 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 |
MLSKVLPVLLGILLILQSRVEGPQTESKNEASSRDVVYGPQPQPLENQLLSEETKSTETE |
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| Sequence length | 506 | |||||||||||||||
| Interactions | View interactions | |||||||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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)
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Related Genes
Genes most often co-reported with GABRE across shared curated disease and pathway associations.
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Diseases Linked via Similar Genes
Diseases curated for genes most similar to GABRE (see Related Genes above), that are NOT already directly curated for GABRE itself -- a lead worth checking, not a confirmed association.
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