Gene Gene information from NCBI Gene database.
Entrez ID 6809
Gene name Syntaxin 3
Gene symbol STX3
Synonyms (NCBI Gene)
DIAR12MVID2RDMVIDSTX3A
Chromosome 11
Chromosome location 11q12.1
Summary The gene is a member of the syntaxin family. The encoded protein is targeted to the apical membrane of epithelial cells where it forms clusters and is important in establishing and maintaining polarity necessary for protein trafficking involving vesicle f
miRNA miRNA information provided by mirtarbase database.
870
miRTarBase ID miRNA Experiments Reference
MIRT019943 hsa-miR-375 Microarray 20215506
MIRT049197 hsa-miR-92a-3p CLASH 23622248
MIRT1400841 hsa-let-7a CLIP-seq
MIRT1400842 hsa-let-7b CLIP-seq
MIRT1400843 hsa-let-7c CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
62
GO ID Ontology Definition Evidence Reference
GO:0000149 Function SNARE binding IBA
GO:0001750 Component Photoreceptor outer segment IEA
GO:0001750 Component Photoreceptor outer segment ISS
GO:0001917 Component Photoreceptor inner segment IEA
GO:0001917 Component Photoreceptor inner segment ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600876 11438 ENSG00000166900
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13277
Protein name Syntaxin-3
Protein function Potentially involved in docking of synaptic vesicles at presynaptic active zones. Apical receptor involved in membrane fusion of apical vesicles. ; [Isoform B]: Essential for survival of retinal photorecee
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00804 Syntaxin 32 226 Syntaxin Domain
PF05739 SNARE 227 279 SNARE domain Family
Tissue specificity TISSUE SPECIFICITY: [Isoform A]: Expressed in small intestine, kidney, pancreas, placenta as well as in retina. Weaker expression in lung, liver and heart. Not expressed in brain and skeletal muscle. {ECO:0000269|PubMed:24726755, ECO:0000269|PubMed:339741
Sequence
Sequence length 289
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  SNARE interactions in vesicular transport
Synaptic vesicle cycle
  Other interleukin signaling
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
25
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Diarrhea 12, with microvillus atrophy Pathogenic rs575668968 RCV001542243
Retinal dystrophy and microvillus inclusion disease Pathogenic rs1359585490, rs2135015231, rs2135015182, rs2134993322 RCV001542247
RCV001542244
RCV001542245
RCV001542246
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs576991 RCV005903655
Clear cell carcinoma of kidney Benign rs576991 RCV005903656
Colon adenocarcinoma Benign rs576991 RCV005903654
Gastric cancer Benign; Likely benign rs148104403 RCV005904645
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Biliary Atresia Associate 21390152
Breast Neoplasms Stimulate 29408595
Cerebral Hemorrhage Associate 30836997
Esophageal Squamous Cell Carcinoma Associate 38014487
Hypoxia Associate 33351148
Inflammation Associate 31824480
Microvillus inclusion disease Associate 26526116, 26553929, 28407399, 29880488
Neoplasms Associate 38014487
Neuroinflammatory Diseases Associate 30836997
Tertiary Lymphoid Structures Stimulate 38014487