STXBP5 (syntaxin binding protein 5)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 134957 |
| Gene name | Syntaxin binding protein 5 |
| Gene symbol | STXBP5 |
| Synonyms (NCBI Gene) |
LGL3LLGL3Nbla04300
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| Chromosome | 6 |
| Chromosome location | 6q24.3 |
| Summary | Syntaxin 1 is a component of the 7S and 20S SNARE complexes which are involved in docking and fusion of synaptic vesicles with the presynaptic plasma membrane. This gene encodes a syntaxin 1 binding protein. In rat, a similar protein dissociates syntaxin |
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miRNA
miRNA information provided by mirtarbase database.
541
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
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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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Q5T5C0 | ||||||||||||||||||||
| Protein name | Syntaxin-binding protein 5 (Lethal(2) giant larvae protein homolog 3) (Tomosyn-1) | ||||||||||||||||||||
| Protein function | Plays a regulatory role in calcium-dependent exocytosis and neurotransmitter release. Inhibits membrane fusion between transport vesicles and the plasma membrane. May modulate the assembly of trans-SNARE complexes between transport vesicles and | ||||||||||||||||||||
| Family and domains |
Pfam
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| Sequence |
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| Sequence length | 1151 | ||||||||||||||||||||
| Interactions | View interactions | ||||||||||||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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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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