InnateDB Protein
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IDBP-368564.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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STXBP2
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Protein Name
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syntaxin binding protein 2
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Synonyms
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FHL5; Hunc18b; MUNC18-2; pp10122; UNC18-2; UNC18B;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000409471
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InnateDB Gene
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IDBG-23137 (STXBP2)
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Protein Structure
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Function |
Involved in intracellular vesicle trafficking and vesicle fusion with membranes. Contributes to the granule exocytosis machinery through interaction with soluble N- ethylmaleimide-sensitive factor attachment protein receptor (SNARE) proteins that regulate membrane fusion. Regulates cytotoxic granule exocytosis in natural killer (NK) cells. {ECO:0000269PubMed:19804848, ECO:0000269PubMed:19884660}.
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Subcellular Localization |
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Disease Associations |
Familial hemophagocytic lymphohistiocytosis 5 (FHL5) [MIM:613101]: A rare disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia. {ECO:0000269PubMed:19804848, ECO:0000269PubMed:19884660}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Placenta, lung, liver, kidney and pancreas, as well as in peripheral blood lymphocytes.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated |
Total |
10
[view]
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Protein-Protein |
9
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
3 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001619
Sec1-like protein
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PFAM |
PF00995
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PRINTS |
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PIRSF |
PIRSF005715
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q15833
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PhosphoSite |
PhosphoSite-Q15833
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TrEMBL |
R4GMY7
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UniProt Splice Variant |
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Entrez Gene |
6813
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UniGene |
Hs.515104
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RefSeq |
NP_001120868
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HUGO |
HGNC:11445
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OMIM |
601717
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CCDS |
CCDS45948
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HPRD |
03423
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IMGT |
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EMBL |
AC008763
AK303701
BC002869
BT006915
CH471139
U63533
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GenPept |
AAC50762
AAH02869
AAP35561
BAG64687
EAW69018
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