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Aliases for STXBP2 Gene

Aliases for STXBP2 Gene

  • Syntaxin Binding Protein 2 2 3 5
  • Protein Unc-18 Homolog B 3 4
  • UNC18-2 3 4
  • Unc-18B 3 4
  • UNC18B 3 4
  • Protein Unc-18 Homolog 2 4
  • MUNC18-2 3
  • Hunc18b 3
  • Pp10122 3
  • FHL5 3

External Ids for STXBP2 Gene

Previous GeneCards Identifiers for STXBP2 Gene

  • GC19P007660
  • GC19P007806
  • GC19P007596
  • GC19P007608
  • GC19P007701
  • GC19P007371

Summaries for STXBP2 Gene

Entrez Gene Summary for STXBP2 Gene

  • 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]

GeneCards Summary for STXBP2 Gene

STXBP2 (Syntaxin Binding Protein 2) is a Protein Coding gene. Diseases associated with STXBP2 include hemophagocytic lymphohistiocytosis, familial, 5 and hemophagocytic lymphohistiocytosis. Among its related pathways are Insulin Signaling. GO annotations related to this gene include syntaxin-1 binding and syntaxin-3 binding. An important paralog of this gene is STXBP1.

UniProtKB/Swiss-Prot for STXBP2 Gene

  • 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.

Gene Wiki entry for STXBP2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for STXBP2 Gene

Genomics for STXBP2 Gene

Regulatory Elements for STXBP2 Gene

Enhancers for STXBP2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around STXBP2 on UCSC Golden Path with GeneCards custom track

Promoters for STXBP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around STXBP2 on UCSC Golden Path with GeneCards custom track

Genomic Location for STXBP2 Gene

Chromosome:
19
Start:
7,636,881 bp from pter
End:
7,647,874 bp from pter
Size:
10,994 bases
Orientation:
Plus strand

Genomic View for STXBP2 Gene

Genes around STXBP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STXBP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STXBP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STXBP2 Gene

Proteins for STXBP2 Gene

  • Protein details for STXBP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15833-STXB2_HUMAN
    Recommended name:
    Syntaxin-binding protein 2
    Protein Accession:
    Q15833
    Secondary Accessions:
    • B4E175
    • E7EQD5
    • Q9BU65

    Protein attributes for STXBP2 Gene

    Size:
    593 amino acids
    Molecular mass:
    66453 Da
    Quaternary structure:
    • Interacts with STX1A, STX2 and STX3 (By similarity). Interacts with STX11.

    Three dimensional structures from OCA and Proteopedia for STXBP2 Gene

    Alternative splice isoforms for STXBP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for STXBP2 Gene

Proteomics data for STXBP2 Gene at MOPED

Post-translational modifications for STXBP2 Gene

  • Ubiquitination at Lys 13, Lys 63, Lys 89, Lys 208, Lys 213, Lys 225, Lys 320, Lys 324, Lys 480, and Lys 560
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for STXBP2 Gene

Domains & Families for STXBP2 Gene

Protein Domains for STXBP2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for STXBP2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15833

UniProtKB/Swiss-Prot:

STXB2_HUMAN :
  • Belongs to the STXBP/unc-18/SEC1 family.
Family:
  • Belongs to the STXBP/unc-18/SEC1 family.
genes like me logo Genes that share domains with STXBP2: view

No data available for Gene Families for STXBP2 Gene

Function for STXBP2 Gene

Molecular function for STXBP2 Gene

GENATLAS Biochemistry:
syntaxin binding protein 2,expressed predominantly in placenta,lung,liver,kidney,pancreas,soluble N ethylmaleimide-sensitive factor-attachment protein receptor,SNARE protein
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for STXBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19804848
genes like me logo Genes that share ontologies with STXBP2: view
genes like me logo Genes that share phenotypes with STXBP2: view

Human Phenotype Ontology for STXBP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for STXBP2 Gene

MGI Knock Outs for STXBP2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for STXBP2 Gene

Localization for STXBP2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for STXBP2 Gene COMPARTMENTS Subcellular localization image for STXBP2 gene
Compartment Confidence
cytosol 5
extracellular 5
lysosome 5
plasma membrane 5
vacuole 5
endoplasmic reticulum 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for STXBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IDA 18588921
GO:0005886 plasma membrane IDA 18588921
GO:0016324 apical plasma membrane IEA --
GO:0070062 extracellular exosome IDA 11487543
genes like me logo Genes that share ontologies with STXBP2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for STXBP2 Gene

Pathways & Interactions for STXBP2 Gene

SuperPathways for STXBP2 Gene

Superpath Contained pathways
1 Insulin Signaling
genes like me logo Genes that share pathways with STXBP2: view

Pathways by source for STXBP2 Gene

1 BioSystems pathway for STXBP2 Gene

SIGNOR curated interactions for STXBP2 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for STXBP2 Gene

None

Drugs & Compounds for STXBP2 Gene

No Compound Related Data Available

Transcripts for STXBP2 Gene

Unigene Clusters for STXBP2 Gene

Syntaxin binding protein 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for STXBP2 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b · 15c · 15d · 15e ^
SP1: - - - - -
SP2: - - - - - -
SP3: - - -
SP4: - -
SP5: - - -
SP6: - - - - - -
SP7: - - - - -
SP8:
SP9:
SP10:
SP11:

ExUns: 16a · 16b ^ 17a · 17b ^ 18 ^ 19 ^ 20
SP1: - -
SP2: - -
SP3:
SP4:
SP5: - - -
SP6:
SP7:
SP8: -
SP9:
SP10:
SP11:

Relevant External Links for STXBP2 Gene

GeneLoc Exon Structure for
STXBP2
ECgene alternative splicing isoforms for
STXBP2

Expression for STXBP2 Gene

mRNA expression in normal human tissues for STXBP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for STXBP2 Gene

This gene is overexpressed in Whole Blood (x24.9).

Protein differential expression in normal tissues from HIPED for STXBP2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (34.6) and Platelet (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for STXBP2 Gene



SOURCE GeneReport for Unigene cluster for STXBP2 Gene Hs.515104

mRNA Expression by UniProt/SwissProt for STXBP2 Gene

Q15833-STXB2_HUMAN
Tissue specificity: Placenta, lung, liver, kidney and pancreas, as well as in peripheral blood lymphocytes.
genes like me logo Genes that share expression patterns with STXBP2: view

Protein tissue co-expression partners for STXBP2 Gene

Primer Products

In Situ Assay Products

Orthologs for STXBP2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for STXBP2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia STXBP2 35
  • 88.65 (n)
  • 94.94 (a)
STXBP2 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia STXBP2 35
  • 88.93 (n)
  • 94.44 (a)
STXBP2 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Stxbp2 35
  • 87.8 (n)
  • 94.77 (a)
Stxbp2 16
Stxbp2 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia STXBP2 35
  • 97.25 (n)
  • 97.13 (a)
STXBP2 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Stxbp2 35
  • 87.3 (n)
  • 94.77 (a)
oppossum
(Monodelphis domestica)
Mammalia STXBP2 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia STXBP2 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia STXBP2 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia stxbp2 35
  • 67.92 (n)
  • 69.62 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.30298 35
zebrafish
(Danio rerio)
Actinopterygii Dr.7775 35
stxbp2 35
  • 68.81 (n)
  • 68.64 (a)
stxbp2 36
  • 68 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Rop 37
  • 54 (a)
Rop 36
  • 55 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T07A9.10 37
  • 31 (a)
unc-18 37
  • 53 (a)
unc-18 36
  • 46 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL162C 35
  • 41.24 (n)
  • 28.65 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D17028g 35
  • 39.39 (n)
  • 29.41 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC1 35
  • 42.63 (n)
  • 30.02 (a)
SEC1 36
  • 21 (a)
OneToMany
SEC1 38
bread mold
(Neurospora crassa)
Ascomycetes NCU08312 35
  • 47.18 (n)
  • 35.48 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sec1 35
  • 41.24 (n)
  • 31.99 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 53 (a)
OneToMany
Species with no ortholog for STXBP2:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for STXBP2 Gene

ENSEMBL:
Gene Tree for STXBP2 (if available)
TreeFam:
Gene Tree for STXBP2 (if available)

Paralogs for STXBP2 Gene

Paralogs for STXBP2 Gene

genes like me logo Genes that share paralogs with STXBP2: view

Variants for STXBP2 Gene

Sequence variations from dbSNP and Humsavar for STXBP2 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs6791 - 7,647,391(+) CTGGC(A/G)TAGAA nc-transcript-variant, reference, missense
VAR_063814 Familial hemophagocytic lymphohistiocytosis 5 (FHL5)
VAR_063816 Familial hemophagocytic lymphohistiocytosis 5 (FHL5)
VAR_063817 Familial hemophagocytic lymphohistiocytosis 5 (FHL5)
VAR_063818 Familial hemophagocytic lymphohistiocytosis 5 (FHL5)

Structural Variations from Database of Genomic Variants (DGV) for STXBP2 Gene

Variant ID Type Subtype PubMed ID
esv2751809 CNV Gain 17911159
nsv910970 CNV Loss 21882294
nsv833731 CNV Loss 17160897
nsv910979 CNV Loss 21882294
esv2718098 CNV Deletion 23290073

Variation tolerance for STXBP2 Gene

Residual Variation Intolerance Score: 35.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.70; 57.36% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for STXBP2 Gene

HapMap Linkage Disequilibrium report
STXBP2
Human Gene Mutation Database (HGMD)
STXBP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STXBP2 Gene

Disorders for STXBP2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for STXBP2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hemophagocytic lymphohistiocytosis, familial, 5
  • familial hemophagocytic lymphohistiocytosis 5
hemophagocytic lymphohistiocytosis
  • haemophagocytic syndrome
osmotic diarrhea
selective immunoglobulin deficiency disease
lymphatic system disease
  • adenopathy
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

STXB2_HUMAN
  • 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:0000269 PubMed:19804848, ECO:0000269 PubMed:19884660}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for STXBP2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
STXBP2
genes like me logo Genes that share disorders with STXBP2: view

No data available for Genatlas for STXBP2 Gene

Publications for STXBP2 Gene

  1. Molecular characterization of a nonneuronal human UNC18 homolog. (PMID: 8921365) Ziegler S.F. … Mulligan J.T. (Genomics 1996) 2 3 4 23 67
  2. Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. (PMID: 19804848) zur Stadt U. … Hennies H.C. (Am. J. Hum. Genet. 2009) 3 23
  3. Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. (PMID: 19884660) Cote M. … de Saint Basile G. (J. Clin. Invest. 2009) 3 23
  4. Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion. (PMID: 25564401) Spessott W.A. … Giraudo C.G. (Blood 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for STXBP2 Gene

Sources for STXBP2 Gene

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