STXB2_HUMAN
Source:
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
STXBP2
, UNC18B
Protein names and data:
STXB2_HUMAN
, Syntaxin-binding protein 2
, Protein unc-18 homolog 2; Unc18-2; Protein unc-18 homolog B; Unc-18B
Lenght: 593 a.a.
Mass: 66453 Da
fasta formatted sequence
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.
Disease:
( OMIM:
601717
613101
)
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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue specificity:
Placenta, lung, liver, kidney and pancreas, as well as in peripheral blood lymphocytes.
Genetic variants
209 - 209
L -> P (in FHL5). VAR_063814
232 - 232
Missing (in FHL5; leads to a complete loss of the ability to interact with STX11). VAR_063815
292 - 292
R -> H (in FHL5; leads to a complete loss of the ability to interact with STX11). VAR_063816
405 - 405
R -> Q (in FHL5; leads to a complete loss of the ability to interact with STX11). VAR_063817
405 - 405
R -> W (in FHL5; leads to a complete loss of the ability to interact with STX11). VAR_063818
477 - 477
P -> L (in FHL5; leads to a complete loss of the ability to interact with STX11). VAR_063819
526 - 526
I -> V (in dbSNP:rs6791). VAR_014934
6791
Database cross-references
UniProt:
Q15833
Ensembl:
ENST00000221283
Ensembl:
ENST00000414284
MIM:
601717
MIM:
613101
neXtProt:
NX_Q15833
Antibodypedia:
Q15833
(may not find the protein thus also not any antibody)
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