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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
  • 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 Angiopoietin Like Protein 8 Regulatory Pathway. 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

Additional gene information for STXBP2 Gene

No data available for CIViC summary , 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
GH19H007700 1.8 FANTOM5 Ensembl ENCODE dbSUPER 17.5 +67.6 67607 7 HDGF PKNOX1 YBX1 ZNF143 ZNF207 ATF7 RUNX3 JUNB ZNF592 NBN ELAVL1 HNRNPM XAB2 STXBP2 FCER2 PEX11G MAP2K7 CD209 CLEC4G RPL21P129
GH19H007636 1 ENCODE 25.1 +0.6 578 2 HDGF PKNOX1 ATF1 SIN3A ARID4B YY1 TCF12 ELK1 ZNF143 ATF7 STXBP2 ZNF414 PET100 ELAVL1 ENSG00000268204 RPS27AP19
GH19H007643 0.9 Ensembl ENCODE 24.3 +8.3 8317 3 HDGF SP3 KLF1 PTBP1 SP2 SP1 ZNF366 POLR2A KLF9 ZNF600 STXBP2 PET100 PCP2 ENSG00000268204 XAB2 RPS27AP19
GH19H007678 1.4 FANTOM5 ENCODE 14.4 +43.8 43815 3 PKNOX1 ARNT ARID4B SIN3A YY1 ZNF207 ZNF143 SP3 SP5 REST HNRNPM ELAVL1 XAB2 ZNF557 MAP2K7 RPL21P129 LYPLA2P2 MBD3L3 MBD3L5 FLJ25758
GH19H006674 1.9 FANTOM5 Ensembl ENCODE dbSUPER 9.7 -961.8 -961775 1 HDGF PKNOX1 YBX1 ZNF143 ZNF207 FOS ZNF548 ATF7 RUNX3 NCOA1 TNFSF14 DENND1C C3 GPR108 TRIP10 XAB2 ZNF557 DUS3L KHSRP STXBP2
- 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
ENSR00000106695 619 1001 HDGF PKNOX1 ATF1 SIN3A ARID4B YY1 TCF12 ELK1 ZNF143 ATF7

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 Lys13, Lys63, Lys89, posLast=208208, posLast=213213, Lys225, Lys320, posLast=324324, posLast=480480, and Lys560
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for STXBP2 Gene

Domains & Families for STXBP2 Gene

Gene Families for STXBP2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

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

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.

Phenotypes From GWAS Catalog for STXBP2 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for STXBP2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for STXBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005829 cytosol IDA,TAS --
GO:0005886 plasma membrane IDA 18588921
GO:0016020 membrane IEA --
GO:0016021 integral component of 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:0002576 platelet degranulation TAS --
GO:0006810 transport IEA --
GO:0006887 exocytosis IEA --
GO:0006904 vesicle docking involved in exocytosis IEA --
genes like me logo Genes that share ontologies with STXBP2: view

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for STXBP2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 CGAP 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.

Evidence on tissue expression from TISSUES for STXBP2 Gene

  • Kidney(4.4)
  • Lung(4.3)
  • Blood(3.1)
  • Bone marrow(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for STXBP2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebrospinal fluid
  • ear
  • eye
  • head
  • meninges
  • mouth
  • neck
  • skull
Thorax:
  • heart
  • lung
Abdomen:
  • biliary tract
  • duodenum
  • intestine
  • liver
  • pancreas
  • small intestine
  • spleen
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • lymph node
  • red blood cell
  • skin
  • spinal cord
  • white blood cell
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 33 34
  • 97.25 (n)
dog
(Canis familiaris)
Mammalia STXBP2 33 34
  • 88.93 (n)
cow
(Bos Taurus)
Mammalia STXBP2 33 34
  • 88.65 (n)
mouse
(Mus musculus)
Mammalia Stxbp2 33 16 34
  • 87.8 (n)
rat
(Rattus norvegicus)
Mammalia Stxbp2 33
  • 87.3 (n)
oppossum
(Monodelphis domestica)
Mammalia STXBP2 34
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia STXBP2 34
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia STXBP2 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia stxbp2 33
  • 67.92 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.30298 33
zebrafish
(Danio rerio)
Actinopterygii stxbp2 33 34
  • 68.81 (n)
Dr.7775 33
fruit fly
(Drosophila melanogaster)
Insecta Rop 35 34
  • 54 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-18 35 34
  • 53 (a)
T07A9.10 35
  • 31 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC1 33 34 36
  • 42.63 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL162C 33
  • 41.24 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D17028g 33
  • 39.39 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 53 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU08312 33
  • 47.18 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sec1 33
  • 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 Pathogenic, Familial hemophagocytic lymphohistiocytosis 5 (FHL5) [MIM:613101] 7,646,322(+) GACCC(C/T)GGTCA nc-transcript-variant, downstream-variant-500B, reference, missense
rs121918541 Pathogenic, Familial hemophagocytic lymphohistiocytosis 5 (FHL5) [MIM:613101] 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

(9) MalaCards diseases for STXBP2 Gene - From: HGMD, 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
hemophagocytic lymphohistiocytosis, familial, 1
  • familial hemophagocytic lymphohistiocytosis 1
hemophagocytic lymphohistiocytosis, familial, 4
  • familial hemophagocytic lymphohistiocytosis 4
osmotic diarrhea
- 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 SF … Mulligan JT (Genomics 1996) 2 3 4 22 60
  2. Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. (PMID: 19884660) Côte M … de Saint Basile G (The Journal of clinical investigation 2009) 3 4 22 60
  3. 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 HC (American journal of human genetics 2009) 3 4 22 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for STXBP2 Gene

Sources for STXBP2 Gene

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