ENSG00000076944


Homo sapiens

Features
Gene ID: ENSG00000076944
  
Biological name :STXBP2
  
Synonyms : Q15833 / STXBP2 / syntaxin binding protein 2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: 1
Band: p13.2
Gene start: 7636881
Gene end: 7647873
  
Corresponding Affymetrix probe sets: 1570420_at (Human Genome U133 Plus 2.0 Array)   209367_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000473406
Ensembl peptide - ENSP00000473040
Ensembl peptide - ENSP00000478797
Ensembl peptide - ENSP00000221283
Ensembl peptide - ENSP00000409471
Ensembl peptide - ENSP00000413606
Ensembl peptide - ENSP00000470313
Ensembl peptide - ENSP00000471161
Ensembl peptide - ENSP00000471327
Ensembl peptide - ENSP00000471585
Ensembl peptide - ENSP00000471737
NCBI entrez gene - 6813     See in Manteia.
OMIM - 601717
RefSeq - XM_011528212
RefSeq - NM_001127396
RefSeq - NM_001272034
RefSeq - NM_006949
RefSeq - XM_011528210
RefSeq Peptide - NP_001258963
RefSeq Peptide - NP_008880
RefSeq Peptide - NP_001120868
swissprot - R4GMY7
swissprot - A0A087WUN8
swissprot - M0QZ54
swissprot - M0R0D4
swissprot - M0R0M7
swissprot - M0R1A1
swissprot - M0R118
swissprot - M0R376
swissprot - Q15833
Ensembl - ENSG00000076944
  
Related genetic diseases (OMIM): 613101 - Hemophagocytic lymphohistiocytosis, familial, 5, 613101
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 stxbp2ENSDARG00000007603Danio rerio
 Q64324ENSMUSG00000004626Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P61764 / STXBP1 / syntaxin binding protein 1ENSG0000013685461
O00186 / STXBP3 / syntaxin binding protein 3ENSG0000011626634


Protein motifs (from Interpro)
Interpro ID Name
 IPR001619  Sec1-like protein
 IPR036045  Sec1-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001909 leukocyte mediated cytotoxicity IMP
 biological_processGO:0002576 platelet degranulation TAS
 biological_processGO:0006887 exocytosis IEA
 biological_processGO:0006904 vesicle docking involved in exocytosis IEA
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0016192 vesicle-mediated transport IEA
 biological_processGO:0043304 regulation of mast cell degranulation ISS
 biological_processGO:0043312 neutrophil degranulation IEP
 biological_processGO:0071346 cellular response to interferon-gamma IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IEA
 cellular_componentGO:0031201 SNARE complex IDA
 cellular_componentGO:0042581 specific granule IDA
 cellular_componentGO:0042582 azurophil granule IDA
 cellular_componentGO:0042589 zymogen granule membrane IEA
 cellular_componentGO:0044194 cytolytic granule IDA
 cellular_componentGO:0045335 phagocytic vesicle IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0070820 tertiary granule IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0017075 syntaxin-1 binding IEA
 molecular_functionGO:0030348 syntaxin-3 binding IPI


Pathways (from Reactome)
Pathway description
Platelet degranulation
Other interleukin signaling


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001433 Hepatosplenomegaly 
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 HP:0001954 Fever, episodic "Periodic (episodic or recurrent) bouts of fever that do not have an infectious cause." [HPO:curators]
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 HP:0002155 Hypertriglyceridemia 
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 HP:0003281 Increased serum ferritin 
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 HP:0012156 Hemophagocytosis "Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues." [HPO:probinson]
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 HP:0012177 Abnormal natural killer cell physiology "A functional anomaly of the `natural killer cell` (CL:0000623)." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000106089 STX1A / Q16623 / syntaxin 1A  / complex






 

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