Free for academic non-profit institutions. Other users need a Commercial license

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
  • Syntaxin-Binding Protein 2 3
  • 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 Response to elevated platelet cytosolic Ca2+ and 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F007636 1.1 ENCODE 25.1 +0.6 578 2.1 HDGF ATF1 PKNOX1 CREB3L1 SIN3A ARID4B YBX1 YY1 ELK1 ZNF143 STXBP2 ZNF414 PET100 ELAVL1 ENSG00000268204 RPS27AP19
GH19F007643 1 Ensembl ENCODE 24.2 +8.3 8317 4.0 HDGF KLF1 ZMYM3 ZNF23 ZNF366 POLR2A EED ZNF600 KLF8 EGR2 STXBP2 PET100 PCP2 ENSG00000268204 XAB2 RPS27AP19
GH19F007700 1.3 FANTOM5 ENCODE 17.5 +67.6 67607 7.0 HDGF PKNOX1 YBX1 ELK1 ZNF143 JUNB TBX21 ZNF610 NBN STAT3 STXBP2 FCER2 PEX11G CD209 CLEC4G RPL21P129 MCEMP1 MCOLN1 PNPLA6 RAB11B-AS1
GH19F007678 1.5 FANTOM5 ENCODE 14.4 +43.8 43815 3.6 PKNOX1 CREB3L1 WRNIP1 SIN3A ARID4B YY1 ZNF207 ZNF143 KLF13 SP3 ELAVL1 HNRNPM XAB2 RPL21P129 LYPLA2P2 MBD3L3 MBD3L5 FLJ25758 ENSG00000261866 LINC01862
GH19F007655 1.5 FANTOM5 Ensembl ENCODE 11.7 +20.4 20420 4.2 PKNOX1 ZNF384 BMI1 RFX5 ZFHX2 POLR2A SCRT2 NFYB EED NR2F6 MCEMP1 XAB2 PCP2 STXBP2 MCOLN1 PEX11G ENSG00000268204 PNPLA6 RETN RPS27AP19
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000214623 619 1401 HDGF ATF1 PKNOX1 CREB3L1 SIN3A ARID4B YBX1 YY1 ELK1 ZNF143

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

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

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
GO:0017075 syntaxin-1 binding IEA --
GO:0030348 syntaxin-3 binding IPI 18588921
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

Inhibitory RNA Products

Cell Line Products

Flow Cytometry 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for STXBP2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
lysosome 5
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 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:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016324 apical plasma membrane IEA --
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

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

Pathways by source for STXBP2 Gene

SIGNOR curated interactions for STXBP2 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for STXBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001909 leukocyte mediated cytotoxicity IMP 19884660
GO:0006810 transport IEA --
GO:0006887 exocytosis IEA --
GO:0006904 vesicle docking involved in exocytosis IEA --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with STXBP2: view

Transcripts for STXBP2 Gene

Unigene Clusters for STXBP2 Gene

Syntaxin binding protein 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for STXBP2 Gene



Protein tissue co-expression partners for STXBP2 Gene

NURSA nuclear receptor signaling pathways regulating expression of STXBP2 Gene:

STXBP2

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

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia STXBP2 34 35
  • 97.25 (n)
dog
(Canis familiaris)
Mammalia STXBP2 34 35
  • 88.93 (n)
cow
(Bos Taurus)
Mammalia STXBP2 34 35
  • 88.65 (n)
mouse
(Mus musculus)
Mammalia Stxbp2 34 16 35
  • 87.8 (n)
rat
(Rattus norvegicus)
Mammalia Stxbp2 34
  • 87.3 (n)
oppossum
(Monodelphis domestica)
Mammalia STXBP2 35
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia STXBP2 35
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia STXBP2 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia stxbp2 34
  • 67.92 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.30298 34
zebrafish
(Danio rerio)
Actinopterygii stxbp2 34 35
  • 68.81 (n)
Dr.7775 34
fruit fly
(Drosophila melanogaster)
Insecta Rop 36 35
  • 54 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-18 36 35
  • 53 (a)
T07A9.10 36
  • 31 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC1 34 35 37
  • 42.63 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL162C 34
  • 41.24 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D17028g 34
  • 39.39 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 53 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU08312 34
  • 47.18 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sec1 34
  • 41.24 (n)
Species where no ortholog for STXBP2 was found in the sources mined by GeneCards:
  • 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
rs121918540 Familial hemophagocytic lymphohistiocytosis 5 (FHL5) [MIM:613101], Pathogenic 7,646,322(+) GACCC(C/T)GGTCA nc-transcript-variant, downstream-variant-500B, reference, missense
rs121918541 Familial hemophagocytic lymphohistiocytosis 5 (FHL5) [MIM:613101], Pathogenic 7,642,081(+) CAAGC(A/C/T)GAACG nc-transcript-variant, reference, missense
rs746897867 Familial hemophagocytic lymphohistiocytosis 5 (FHL5) [MIM:613101] 7,642,509(+) GCTTC(A/G)CCACA nc-transcript-variant, reference, missense
rs769717341 Familial hemophagocytic lymphohistiocytosis 5 (FHL5) [MIM:613101] 7,644,719(+) AGATC(C/T)GGGTC nc-transcript-variant, reference, missense
rs773360200 Familial hemophagocytic lymphohistiocytosis 5 (FHL5) [MIM:613101] 7,644,720(+) GATCC(A/G)GGTCC nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
esv2718098 CNV deletion 23290073
esv2751809 CNV gain 17911159
esv3441753 CNV duplication 20981092
nsv1060887 CNV gain 25217958
nsv1117210 CNV tandem duplication 24896259
nsv578511 CNV gain 21841781
nsv833731 CNV loss 17160897
nsv953958 CNV deletion 24416366

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

Human Gene Mutation Database (HGMD)
STXBP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
  • hemophagocytic lymphohistiocytosis, familial, 2
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 22 64
  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 4 22 64
  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 4 22 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. Prevalence of type 5 familial hemophagocytic lymphohistiocytosis in Korea and novel mutations in STXBP2. (PMID: 26451869) Seo J.Y. … Kim H.J. (Clin. Genet. 2016) 3 64

Products for STXBP2 Gene

Sources for STXBP2 Gene

Content
Loading form....