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STXBP2 (NM_001272034) - syntaxin binding protein 2

Syntaxin-Binding Protein 2 Isoform C

PTM Interaction Network Visualisation

Protein summary

This is an alternative isoform of STXBP2 protein. View all 3 isoforms
STXBP2: syntaxin-binding protein 2 isoform c
Description:

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. [provided by RefSeq, Jan 2013].

Strand
+
Chromosome
19
Protein
604 residues
All mutations
166
PTM sites
34
CDS
7,702,035 - 7,712,696
Transcription
7,701,986 - 7,712,760
3.97% of sequence is predicted to be disordered

Usage summary

Network

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PTM site

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Kinases group

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Kinase, PTM site or protein

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 6813
UniProt
Ensembl