STXBP2 Back

syntaxin binding protein 2

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NCBI Description of STXBP2

This gene encodes a member of the STXBP/unc-18/SEC1 family. The encoded protein is involved in intracellular trafficking, control of SNARE (soluble NSF attachment protein receptor) complex assembly, and the release of cytotoxic granules by natural killer cells. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.

Community Annotation of STXBP2 Add / Edit STXBP2: Annotations

No community annotations yet for STXBP2.
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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

STXBP2 is highly significantly mutated in
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STXBP2 is significantly mutated in
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STXBP2 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


Mutation list for STXBP2