Aliases for STXBP3 Gene

Aliases for STXBP3 Gene

  • Syntaxin Binding Protein 3 2 3 5
  • Syntaxin-Binding Protein 3 3 4
  • Protein Unc-18 Homolog 3 3 4
  • Protein Unc-18 Homolog C 3 4
  • Platelet Sec1 Protein 3 4
  • UNC-18C 2 3
  • Unc18-3 3 4
  • PSP 3 4
  • Syntaxin 4 Binding Protein 3
  • MUNC18-3 3
  • MUNC18C 3
  • Unc-18C 4
  • STXBP3 5

External Ids for STXBP3 Gene

Previous GeneCards Identifiers for STXBP3 Gene

  • GC01M109954
  • GC01P108266
  • GC01P108387
  • GC01P108635
  • GC01P109001
  • GC01P109094
  • GC01P109289
  • GC01P107182

Summaries for STXBP3 Gene

GeneCards Summary for STXBP3 Gene

STXBP3 (Syntaxin Binding Protein 3) is a Protein Coding gene. Diseases associated with STXBP3 include Hemophagocytic Lymphohistiocytosis, Familial, 4. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include syntaxin binding and syntaxin-1 binding. An important paralog of this gene is STXBP1.

UniProtKB/Swiss-Prot Summary for STXBP3 Gene

  • Together with STX4 and VAMP2, may play a role in insulin-dependent movement of GLUT4 and in docking/fusion of intracellular GLUT4-containing vesicles with the cell surface in adipocytes.

Gene Wiki entry for STXBP3 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for STXBP3 Gene

Genomics for STXBP3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for STXBP3 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J108745 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 259.6 +0.4 428 3.4 CHD2 TBP ZBTB10 MXD4 SP1 MNT DEK IKZF1 SMAD5 HES1 STXBP3 HSALNG0005832 GPR61 CLCC1 WDR47 PRPF38B PSRC1 CELSR2 lnc-STXBP3-2 ENSG00000228076
GH01J108813 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.4 +69.1 69125 4.9 ZBTB10 FEZF1 MNT ZNF217 BHLHE40 RAD51 ZNF395 REST MAX SAP130 AKNAD1 ENSG00000232971 TMEM167B STXBP3 LOC105378891 SPATA42 lnc-AKNAD1-1 GPSM2
GH01J108718 Enhancer 1.2 FANTOM5 Ensembl ENCODE 9.9 -26.4 -26373 3.4 ZBTB10 CEBPA IKZF1 BHLHE40 ZIC2 NFATC3 MAFF TRIM25 ZEB2 ZNF316 PRPF38B STXBP3 HSALNG0005828 FNDC7
GH01J108583 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 6.6 -161.6 -161639 3.8 DEK BRCA1 ZIC2 CEBPB CUX1 FOXA2 EP300 RFX5 STAT3 JUND FAM102B PRPF38B HENMT1 STXBP3 piR-55361-031 HSALNG0005818
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around STXBP3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for STXBP3

Top Transcription factor binding sites by QIAGEN in the STXBP3 gene promoter:
  • ATF-2
  • CRE-BP1
  • LUN-1
  • Meis-1
  • Meis-1a
  • Meis-1b
  • POU2F1
  • POU2F1a
  • RORalpha2
  • Sp1

Genomic Locations for STXBP3 Gene

Latest Assembly
62,850 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
62,850 bases
Plus strand

(GRCh37/hg19 by Ensembl)
62,853 bases
Plus strand

Genomic View for STXBP3 Gene

Genes around STXBP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STXBP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STXBP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STXBP3 Gene

Proteins for STXBP3 Gene

  • Protein details for STXBP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Syntaxin-binding protein 3
    Protein Accession:
    Secondary Accessions:
    • A8K269
    • A8K5K7
    • Q53FW1
    • Q86YJ3
    • Q9UPD7

    Protein attributes for STXBP3 Gene

    592 amino acids
    Molecular mass:
    67764 Da
    Quaternary structure:
    • Interacts with DOC2B; the interaction is direct, occurs at the cell membrane, excludes interaction with STX4 and regulates glucose-stimulated insulin secretion (By similarity). Interacts with STX4.

neXtProt entry for STXBP3 Gene

Post-translational modifications for STXBP3 Gene

  • Phosphorylated by PKC in platelets in response to thrombin stimulation; phosphorylation inhibits binding to STX4.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for STXBP3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for STXBP3
  • Boster Bio Antibodies for STXBP3
  • Santa Cruz Biotechnology (SCBT) Antibodies for STXBP3

Protein products for research

No data available for DME Specific Peptides for STXBP3 Gene

Domains & Families for STXBP3 Gene

Gene Families for STXBP3 Gene

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

Protein Domains for STXBP3 Gene

  • Sec1-like protein

Suggested Antigen Peptide Sequences for STXBP3 Gene

GenScript: Design optimal peptide antigens:
  • Protein unc-18 homolog C (STXB3_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the STXBP/unc-18/SEC1 family.
  • Belongs to the STXBP/unc-18/SEC1 family.
genes like me logo Genes that share domains with STXBP3: view

Function for STXBP3 Gene

Molecular function for STXBP3 Gene

UniProtKB/Swiss-Prot Function:
Together with STX4 and VAMP2, may play a role in insulin-dependent movement of GLUT4 and in docking/fusion of intracellular GLUT4-containing vesicles with the cell surface in adipocytes.

Phenotypes From GWAS Catalog for STXBP3 Gene

Gene Ontology (GO) - Molecular Function for STXBP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12773094
GO:0017075 syntaxin-1 binding IEA,IBA 21873635
GO:0019905 syntaxin binding IEA,IPI 12773094
GO:0044877 protein-containing complex binding IEA --
genes like me logo Genes that share ontologies with STXBP3: view
genes like me logo Genes that share phenotypes with STXBP3: view

Animal Models for STXBP3 Gene

MGI Knock Outs for STXBP3:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STXBP3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for STXBP3 Gene

Localization for STXBP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for STXBP3 Gene

Cytoplasm, cytosol. Cell membrane. Note=In platelets, predominantly cytosolic. Low amounts membrane-associated.

Subcellular locations from

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 STXBP3 gene
Compartment Confidence
plasma membrane 5
cytosol 5
extracellular 4
nucleus 3
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for STXBP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IBA,IDA 18588921
GO:0016020 membrane IEA --
GO:0016323 basolateral plasma membrane IEA --
genes like me logo Genes that share ontologies with STXBP3: view

Pathways & Interactions for STXBP3 Gene

genes like me logo Genes that share pathways with STXBP3: view

Pathways by source for STXBP3 Gene

Gene Ontology (GO) - Biological Process for STXBP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001678 cellular glucose homeostasis IEA --
GO:0006886 intracellular protein transport IBA 21873635
GO:0006887 exocytosis IEA --
GO:0006904 vesicle docking involved in exocytosis IBA 21873635
GO:0007269 neurotransmitter secretion IBA 21873635
genes like me logo Genes that share ontologies with STXBP3: view

No data available for SIGNOR curated interactions for STXBP3 Gene

Drugs & Compounds for STXBP3 Gene

(1) Additional Compounds for STXBP3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with STXBP3: view

Transcripts for STXBP3 Gene

mRNA/cDNA for STXBP3 Gene

11 NCBI additional mRNA sequence :
7 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 STXBP3

Alternative Splicing Database (ASD) splice patterns (SP) for STXBP3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
SP1: - -

Relevant External Links for STXBP3 Gene

GeneLoc Exon Structure for

Expression for STXBP3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for STXBP3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for STXBP3 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (18.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for STXBP3 Gene

Protein tissue co-expression partners for STXBP3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for STXBP3

SOURCE GeneReport for Unigene cluster for STXBP3 Gene:


mRNA Expression by UniProt/SwissProt for STXBP3 Gene:

Tissue specificity: Megakaryocytes and platelets.

Evidence on tissue expression from TISSUES for STXBP3 Gene

  • Nervous system(4.8)
  • Liver(4.3)
  • Lung(4.3)
  • Pancreas(2.4)
  • Adrenal gland(2.3)
  • Muscle(2.3)
  • Blood(2.2)
  • Skin(2.1)
  • Heart(2)
  • Kidney(2)
genes like me logo Genes that share expression patterns with STXBP3: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for STXBP3 Gene

Orthologs for STXBP3 Gene

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

Orthologs for STXBP3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia STXBP3 30 31
  • 99.66 (n)
(Canis familiaris)
Mammalia STXBP3 30 31
  • 93.75 (n)
(Bos Taurus)
Mammalia STXBP3 30 31
  • 93.02 (n)
(Monodelphis domestica)
Mammalia STXBP3 31
  • 91 (a)
(Mus musculus)
Mammalia Stxbp3a 30 31
  • 87.93 (n)
Stxbp3b 31
  • 84 (a)
Stxbp3 17
(Rattus norvegicus)
Mammalia Stxbp3 30
  • 87.39 (n)
(Ornithorhynchus anatinus)
Mammalia STXBP3 31
  • 87 (a)
(Gallus gallus)
Aves STXBP3 30 31
  • 77.05 (n)
(Anolis carolinensis)
Reptilia STXBP3 31
  • 75 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia stxbp3 30
  • 69.35 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16785 30
(Danio rerio)
Actinopterygii stxbp3 30 31
  • 61.21 (n)
wufb71h06 30
Fruit Fly
(Drosophila melanogaster)
Insecta Rop 31
  • 43 (a)
(Caenorhabditis elegans)
Secernentea unc-18 31
  • 37 (a)
T07A9.10 32
  • 30 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC1 31
  • 19 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 44 (a)
Species where no ortholog for STXBP3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • 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)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • 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 STXBP3 Gene

Gene Tree for STXBP3 (if available)
Gene Tree for STXBP3 (if available)
Evolutionary constrained regions (ECRs) for STXBP3: view image

Paralogs for STXBP3 Gene

(3) SIMAP similar genes for STXBP3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with STXBP3: view

Variants for STXBP3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for STXBP3 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs1044136 - p.Glu433Gly
rs1044137 - p.Cys546Gly
rs2275344 - p.Arg295Gln

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for STXBP3 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 STXBP3 Gene

Variant ID Type Subtype PubMed ID
dgv487n54 CNV loss 21841781
esv1070190 CNV deletion 17803354
esv29430 CNV loss 19812545
esv3587137 CNV loss 21293372
nsv1013192 CNV gain 25217958
nsv1078057 CNV deletion 25765185
nsv1078622 CNV deletion 25765185
nsv1140419 CNV tandem duplication 24896259
nsv1153780 CNV deletion 26484159
nsv2287 CNV deletion 18451855
nsv823908 CNV loss 20364138
nsv947442 CNV duplication 23825009

Variation tolerance for STXBP3 Gene

Residual Variation Intolerance Score: 26.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.01; 49.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for STXBP3 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STXBP3 Gene

Disorders for STXBP3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for STXBP3 Gene - From: COP

Disorder Aliases PubMed IDs
hemophagocytic lymphohistiocytosis, familial, 4
  • fhl4
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for STXBP3

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with STXBP3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for STXBP3 Gene

Publications for STXBP3 Gene

  1. Human platelets contain SNARE proteins and a Sec1p homologue that interacts with syntaxin 4 and is phosphorylated after thrombin activation: implications for platelet secretion. (PMID: 10194441) Reed GL … Fitzgerald ML (Blood 1999) 2 3 4 23
  2. Identification of type 2 diabetes-associated combination of SNPs using support vector machine. (PMID: 20416077) Ban HJ … Park KJ (BMC genetics 2010) 3 41
  3. Involvement of Munc18 isoforms in the regulation of granule exocytosis in neutrophils. (PMID: 18588921) Brochetta C … Blank U (Biochimica et biophysica acta 2008) 3 23
  4. Protease-activated receptor-1 activation of endothelial cells induces protein kinase Calpha-dependent phosphorylation of syntaxin 4 and Munc18c: role in signaling p-selectin expression. (PMID: 15576373) Fu J … Malik AB (The Journal of biological chemistry 2005) 3 23
  5. Identification of 80K-H as a protein involved in GLUT4 vesicle trafficking. (PMID: 15707389) Hodgkinson CP … Sale GJ (The Biochemical journal 2005) 3 23

Products for STXBP3 Gene

Sources for STXBP3 Gene