STX1B


Summary: The protein encoded by this gene belongs to a family of proteins thought to play a role in the exocytosis of synaptic vesicles. Vesicle exocytosis releases vesicular contents and is important to various cellular functions. For instance, the secretion of transmitters from neurons plays an important role in synaptic transmission. After exocytosis, the membrane and proteins from the vesicle are retrieved from the plasma membrane through the process of endocytosis. Mutations in this gene have been identified as one cause of fever-associated epilepsy syndromes. A possible link between this gene and Parkinson's disease has also been suggested. [provided by RefSeq, Jan 2015].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
OMIM IDMIM:601485
PHARMGKB IDPA38345
Map Location16p11.2

GO terms in STX1B


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Term Type
Evidence Type
GO Term ID
GO Des.
MF IBA GO:0000149 SNARE binding
MF IEA GO:0005102 signaling receptor binding
MF IBA GO:0005484 SNAP receptor activity
MF ISS GO:0019901 protein kinase binding
MF IEA GO:0019904 protein domain specific binding
CC IEA GO:0005634 nucleus
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Gene expression in normal tissue: STX1B

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in STX1B


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Database
Pathway ID
Pathway Des.
reactome R-HSA-1266738 Developmental Biology
reactome R-HSA-1643685 Disease
reactome R-HSA-168799 Neurotoxicity of clostridium toxins
reactome R-HSA-5250971 Toxicity of botulinum toxin type C (BoNT/C)
reactome R-HSA-5339562 Uptake and actions of bacterial toxins
reactome R-HSA-5663205 Infectious disease
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD353 PD0325901 1
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in STX1B

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
No matching records found

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