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gamma-aminobutyric acid type A receptor subunit beta3
Summary
- Gene Symbol
-
- GABRB3
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Cell membrane
- Chloride channel
- Cytoplasmic vesicle
- Direct protein sequencing
- Disease variant
- Disulfide bond
- Epilepsy
- Glycoprotein
- Ligand-gated ion channel
- Postsynaptic cell membrane
- Receptor
- Reference proteome
- Signal
- Transmembrane helix
- Proteins
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| synaptic transmission, GABAergic | ||
| roof of mouth development | ||
| chloride transmembrane transport | ||
| cellular response to histamine | ||
| regulation of membrane potential |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| postsynaptic membrane | ||
| postsynaptic specialization membrane | ||
| cytoplasmic vesicle membrane | ||
| GABA-A receptor complex | ||
| plasma membrane |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| neurotransmitter receptor activity | ||
| identical protein binding | ||
| GABA-A receptor activity | ||
| chloride channel activity | ||
| GABA-gated chloride ion channel activity |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- gamma-aminobutyric acid receptor subunit beta
- Functional Category
-
- E: Amino acid transport and metabolism
- T: Signal transduction mechanisms
- X: Mobilome: prophages, transposons
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050696 | fetal alcohol spectrum disorder | |
| DOID:0050741 | alcohol dependence | |
| DOID:0060037 | developmental disorder of mental health | |
| DOID:0060041 | autism spectrum disorder | |
| DOID:0080447 | developmental and epileptic encephalopathy 43 | |
| DOID:1574 | alcohol use disorder | |
| DOID:1824 | status epilepticus | |
| DOID:1825 | childhood absence epilepsy | |
| DOID:1826 | epilepsy | |
| DOID:9976 | heroin dependence |
Ortholog
| Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|---|
| 14402 | MGI:95621 | MOUSE56776 | ||
| 24922 | RGD:2651 | RATNO17889 | ||
| 32554 | FB:FBgn0010240 | |||
| 176691 | WB:WBGene00001512 | |||
| 453265 | 9598_0:003e90 | PANTR09806 | ||
| 529593 | BOVIN16286 | |||
| 566922 | ZFIN:ZDB-GENE-101102-2 | |||
| 711754 | MACMU42923 | |||
| 100011606 | MONDO32413 | |||
| 100050803 | HORSE16599 |
