STXBP2
entrez
6813
canonical
uniprot
Q15833
canonical
ensembl
ENSG00000076944
resolver
ensp
ENSP00000221283
resolver
ensp
ENSP00000409471
resolver
ensp
ENSP00000413606
resolver
genesymbol
STXBP2
resolver
genesymbol_syn
UNC18B
resolver
hgnc
HGNC:11445
resolver
uniprot
B4E175
resolver
uniprot
E7EQD5
resolver
uniprot
Q53GF4
resolver
uniprot
Q9BU65
resolver
uniprot_entry
Q53GF4_HUMAN
resolver
uniprot_entry
STXB2_HUMAN
resolver
uniprot_sec
B4E175
resolver
uniprot_sec
E7EQD5
resolver
uniprot_sec
Q9BU65
resolver
amino_acid_sequence
MAPSGLKAVVGEKILSGVIRSVKKDGEWKVLIMDHPSMRILSSCCKMSDILAEGITIVEDINKRREPIPSLEAIYLLSPTEKSVQALIKDFQGTPTFTYKAAHIFFTDTCPEPLFSELGRSRLAKVVKTLKEIHLAFLPYEAQVFSLDAPHSTYNLYCPFRAEERTRQLEVLAQQIATLCATLQEYPAIRYRKGPEDTAQLAHAVLAKLNAFKADTPSLGEGPEKTRSQLLIMDRAADPVSPLLHELTFQAMAYDLLDIEQDTYRYETTGLSEAREKAVLLDEDDDLWVELRHMHIADVSKKVTELLRTFCESKRLTTDKANIKDLSQILKKMPQYQKELNKYSTHLHLADDCMKHFKGSVEKLCSVEQDLAMGSDAEGEKIKDSMKLIVPVLLDAAVPAYDKIRVLLLYILLRNGVSEENLAKLIQHANVQAHSSLIRNLEQLGGTVTNPGGSGTSSRLEPRERMEPTYQLSRWTPVIKDVMEDAVEDRLDRNLWPFVSDPAPTASSQAAVSARFGHWHKNKAGIEARAGPRLIVYVMGGVAMSEMRAAYEVTRATEGKWEVLIGSSHILTPTRFLDDLKALDKKLEDIALP
uniprot
proteins
disease_involvement
DISEASE: Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease (FHL5) [MIM:613101]: A rare, autosomal recessive 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. Some patients may present in early infancy with severe diarrhea, prior to the onset of typical FHL features, whereas others present later in childhood and have a more protracted course without diarrhea. The early-onset diarrhea is due to enteropathy reminiscent of microvillus inclusion disease. {ECO:0000269|PubMed:19804848, ECO:0000269|PubMed:19884660}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Functions in intracellular vesicle trafficking through interaction with SNAREs (soluble N-ethylmaleimide-sensitive factor-attachment protein receptors) which are essential proteins for membrane fusion. By promoting the assembly of functional STX11/SNAP23/VAMP8 SNARE complexes at the plasma membrane, regulates cytotoxic granule exocytosis in natural killer (NK) cells. {ECO:0000269|PubMed:19804848, ECO:0000269|PubMed:19884660, ECO:0000269|PubMed:26771955, ECO:0000269|PubMed:28265073}.
uniprot
proteins
mass_dalton
66453
uniprot
proteins
mutagenesis
MUTAGEN 65; /note="R->Q: Increased interaction with STX11. Dominant negative that inhibits STX11 activity in membrane fusion."; /evidence="ECO:0000269|PubMed:28265073"; MUTAGEN 132; /note="E->A: No effect on STX11 activity in membrane fusion."; /evidence="ECO:0000269|PubMed:28265073
uniprot
proteins
protein_family
STXBP/unc-18/SEC1 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19804848
uniprot
proteins
pubmed
19884660
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24910990
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26771955
uniprot
proteins
pubmed
28265073
uniprot
proteins
pubmed
8921365
uniprot
proteins
sequence_length
593
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:24910990, ECO:0000269|PubMed:26771955}; Peripheral membrane protein {ECO:0000305}. Cytolytic granule membrane {ECO:0000269|PubMed:26771955}; Peripheral membrane protein {ECO:0000305}. Note=Enriched at the immunological synapse in activated immune cells. {ECO:0000269|PubMed:24910990}.
uniprot
proteins