Gene Gene information from NCBI Gene database.
Entrez ID 6814
Gene name Syntaxin binding protein 3
Gene symbol STXBP3
Synonyms (NCBI Gene)
MUNC18-3MUNC18CPSPUNC-18C
Chromosome 1
Chromosome location 1p13.3
miRNA miRNA information provided by mirtarbase database.
174
miRTarBase ID miRNA Experiments Reference
MIRT023896 hsa-miR-1-3p Proteomics 18668040
MIRT029784 hsa-miR-26b-5p Microarray 19088304
MIRT031842 hsa-miR-16-5p Proteomics 18668040
MIRT043953 hsa-miR-378a-3p CLASH 23622248
MIRT057906 hsa-miR-15a-5p HITS-CLIP 22473208
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
45
GO ID Ontology Definition Evidence Reference
GO:0001678 Process Intracellular glucose homeostasis IEA
GO:0005515 Function Protein binding IPI 12773094
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IDA 18588921
GO:0005829 Component Cytosol IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608339 11446 ENSG00000116266
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O00186
Protein name Syntaxin-binding protein 3 (Platelet Sec1 protein) (PSP) (Protein unc-18 homolog 3) (Unc18-3) (Protein unc-18 homolog C) (Unc-18C)
Protein 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.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00995 Sec1 33 575 Sec1 family Family
Tissue specificity TISSUE SPECIFICITY: Megakaryocytes and platelets.
Sequence
Sequence length 592
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Disinhibition of SNARE formation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Breast Neoplasms Associate 34876482
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Associate 20460426
★☆☆☆☆
Found in Text Mining only
Hearing Loss Sensorineural Associate 33891011
★☆☆☆☆
Found in Text Mining only
HIV Infections Associate 21897333
★☆☆☆☆
Found in Text Mining only
Inflammation Associate 21897333
★☆☆☆☆
Found in Text Mining only
Inflammatory Bowel Diseases Associate 33891011
★☆☆☆☆
Found in Text Mining only
Insulin Resistance Associate 20460426
★☆☆☆☆
Found in Text Mining only
Insulin Resistance Inhibit 22390153
★☆☆☆☆
Found in Text Mining only
Neoplasm Metastasis Associate 34876482
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 18556422, 28798239
★☆☆☆☆
Found in Text Mining only