Metazoan complexes |
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Emili & Marcotte labs |
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Details of GABRB3 gene in Homo sapiens
IDs | |||||||||
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Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| GABRB3 | --- | P28472 | GBRB3_HUMAN | 2562 | ENSG00000166206 | Gamma-aminobutyric acid receptor subunit beta-3 | SPROT |
Disease | |||||||||
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Disease | OMIM id | ||||||||
Note=Defects in GABRB3 are associated with chronic insomnia, a condition of inability to initiate or maintain sleep. This may occur as a primary disorder or in association with another medical or psychiatric condition. | --- | Epilepsy, childhood absence 5 (ECA5) [MIM:612269]: A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. | 612269 |
Orthologs in other species | |||||||||
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M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Gabrb3 | Lcch3 | gab-1 | Sp-GabrA... |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
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Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
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