SLC6A11
Summary: The protein encoded by this gene is a sodium-dependent transporter that uptakes gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter, which ends the GABA neurotransmission. Defects in this gene may result in epilepsy, behavioral problems, or intellectual problems. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:607952 Ensembl IDEnsembl:ENSG00000132164 HGNC IDHGNC:HGNC:11044 PHARMGKB IDPA35907 Map Location3p25.3 | |||||
GO terms in SLC6A11
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Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IEA | GO:0007420 | brain development |
| BP | IEA | GO:0015812 | gamma-aminobutyric acid transport |
| BP | IBA | GO:0035725 | sodium ion transmembrane transport |
| BP | IEA | GO:0042493 | response to drug |
| BP | IEA | GO:0055085 | transmembrane transport |
| CC | IEA | GO:0005737 | cytoplasm |
Gene expression in normal tissue: SLC6A11
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SLC6A11
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-112310 | Neurotransmitter release cycle |
| reactome | R-HSA-112315 | Transmission across Chemical Synapses |
| reactome | R-HSA-112316 | Neuronal System |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-351202 | Metabolism of polyamines |
| reactome | R-HSA-382551 | Transport of small molecules |
Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD131 | Erlotinib | 1 |
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Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SLC6A11
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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