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 transcri... See more...

Aliases for STXBP2 Gene

Aliases for STXBP2 Gene

  • Syntaxin Binding Protein 2 2 3 5
  • UNC18B 2 3 4
  • Syntaxin-Binding Protein 2 3 4
  • Protein Unc-18 Homolog B 3 4
  • MUNC18-2 2 3
  • Hunc18b 2 3
  • Unc-18B 3 4
  • Unc18-2 2 4
  • Protein Unc-18 Homolog 2 4
  • UNC18-2 3
  • Pp10122 3
  • STXBP2 5
  • 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, Familial, 1. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Angiopoietin Like Protein 8 Regulatory Pathway. Gene Ontology (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 Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for STXBP2 Gene

Genomics for STXBP2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for STXBP2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around STXBP2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for STXBP2

Top Transcription factor binding sites by QIAGEN in the STXBP2 gene promoter:
  • GCNF
  • GCNF-1
  • GCNF-2
  • GR
  • GR-alpha
  • Lmo2
  • Nkx2-5
  • SEF-1 (1)
  • Sp1
  • STAT3

Genomic Locations for STXBP2 Gene

Latest Assembly
chr19:7,636,881-7,647,873
(GRCh38/hg38)
Size:
10,993 bases
Orientation:
Plus strand

Previous Assembly
chr19:7,701,996-7,712,759
(GRCh37/hg19 by Entrez Gene)
Size:
10,764 bases
Orientation:
Plus strand

chr19:7,701,767-7,712,759
(GRCh37/hg19 by Ensembl)
Size:
10,993 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, Lys208, Lys213, Lys225, Lys320, Lys324, Lys480, 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

Suggested Antigen Peptide Sequences for STXBP2 Gene

GenScript: Design optimal peptide antigens:
  • Protein unc-18 homolog B (STXB2_HUMAN)

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

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

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 IBA 21873635
GO:0019905 syntaxin binding IBA 21873635
GO:0030348 syntaxin-3 binding IBA,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:

miRNA for STXBP2 Gene

miRTarBase miRNAs that target STXBP2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STXBP2

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
cytosol 5
lysosome 5
extracellular 4
nucleus 2
endosome 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 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 IBA,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

Activates:
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:0006886 intracellular protein transport IBA 21873635
GO:0006887 exocytosis IEA --
GO:0006904 vesicle docking involved in exocytosis IEA,IBA 21873635
genes like me logo Genes that share ontologies with STXBP2: view

Drugs & Compounds for STXBP2 Gene

(1) Drugs for STXBP2 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
emapalumab Approved, Investigational Pharma 0
genes like me logo Genes that share compounds with STXBP2: view

Transcripts for STXBP2 Gene

mRNA/cDNA for STXBP2 Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
22 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STXBP2

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

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, MaxQB, and MOPED for STXBP2 Gene



Protein tissue co-expression partners for STXBP2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.4)
  • Blood(3.4)
  • Bone marrow(3)
  • Nervous system(2.7)
  • Spleen(2.5)
  • Intestine(2.5)
  • Lymph node(2.5)
  • Skin(2.3)
  • Liver(2.2)
  • Pancreas(2.1)

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
Regions:
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 for research

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 29 30
  • 97.25 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia STXBP2 29 30
  • 88.93 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia STXBP2 29 30
  • 88.65 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Stxbp2 29 16 30
  • 87.8 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Stxbp2 29
  • 87.3 (n)
Oppossum
(Monodelphis domestica)
Mammalia STXBP2 30
  • 72 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia STXBP2 30
  • 66 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia STXBP2 30
  • 71 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia stxbp2 29
  • 67.92 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.30298 29
Zebrafish
(Danio rerio)
Actinopterygii stxbp2 29 30
  • 68.81 (n)
OneToOne
Dr.7775 29
Fruit Fly
(Drosophila melanogaster)
Insecta Rop 30 31
  • 55 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea unc-18 30 31
  • 46 (a)
OneToMany
T07A9.10 31
  • 31 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC1 29 30 32
  • 42.63 (n)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGL162C 29
  • 41.24 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D17028g 29
  • 39.39 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 53 (a)
OneToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU08312 29
  • 47.18 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sec1 29
  • 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for STXBP2: view image
Alliance of Genome Resources:
Additional Orthologs for STXBP2

Paralogs for STXBP2 Gene

(4) SIMAP similar genes for STXBP2 Gene using alignment to 9 proteins:

  • STXB2_HUMAN
  • E7EQD5_HUMAN
  • M0QZ54_HUMAN
  • M0R0D4_HUMAN
  • M0R0M7_HUMAN
  • M0R118_HUMAN
  • M0R1A1_HUMAN
  • M0R376_HUMAN
  • R4GMY7_HUMAN
genes like me logo Genes that share paralogs with STXBP2: view

Variants for STXBP2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for STXBP2 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
1001770 Uncertain Significance: Hemophagocytic lymphohistiocytosis, familial, 5 7,642,243(+) G/A
NM_006949.4(STXBP2):c.704G>A (p.Arg235Gln)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1002559 Uncertain Significance: Hemophagocytic lymphohistiocytosis, familial, 5 7,644,746(+) C/T
NM_006949.4(STXBP2):c.1240C>T (p.Arg414Trp)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1002700 Uncertain Significance: Hemophagocytic lymphohistiocytosis, familial, 5 7,639,068(+) A/G
NM_006949.4(STXBP2):c.137A>G (p.Lys46Arg)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1005987 Uncertain Significance: Hemophagocytic lymphohistiocytosis, familial, 5 7,647,752(+) G/T
NM_006949.4(STXBP2):c.1724G>T (p.Arg575Leu)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1006703 Uncertain Significance: Hemophagocytic lymphohistiocytosis, familial, 5 7,644,690(+) A/G
NM_006949.4(STXBP2):c.1184A>G (p.Asp395Gly)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for STXBP2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for STXBP2 Gene

Human Gene Mutation Database (HGMD)
STXBP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
STXBP2
Leiden Open Variation Database (LOVD)
STXBP2

SNP Genotyping and Copy Number Assays for research

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

Disorders for STXBP2 Gene

MalaCards: The human disease database

(23) MalaCards diseases for STXBP2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

UniProtKB/Swiss-Prot

STXB2_HUMAN
  • Hemophagocytic lymphohistiocytosis, familial, 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 variants affecting the gene represented in this entry.

Additional Disease Information for 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. 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 72
  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 HC (American journal of human genetics 2009) 3 4 22 72
  3. Molecular characterization of a nonneuronal human UNC18 homolog. (PMID: 8921365) Ziegler SF … Mulligan JT (Genomics 1996) 2 3 4 22
  4. Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5). (PMID: 22451424) Pagel J … Janka G (Blood 2012) 3 72
  5. Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2. (PMID: 20558610) Meeths M … Henter JI (Blood 2010) 3 72

Products for STXBP2 Gene

Sources for STXBP2 Gene