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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Diarrhea 12, with microvillus atrophy Pathogenic rs575668968 RCV001542243
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy and microvillus inclusion disease Pathogenic rs1359585490, rs2135015231, rs2135015182, rs2134993322 RCV001542247
RCV001542244
RCV001542245
RCV001542246
★★★★☆
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
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Biliary Atresia Biliary Atresia BEFREE 21390152
★☆☆☆☆
Found in Text Mining only
Biliary Atresia Biliary atresia Pubtator 21390152 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 29408595
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 29408595 Stimulate
★☆☆☆☆
Found in Text Mining only
Cerebral Hemorrhage Cerebral hemorrhage Pubtator 30836997 Associate
★☆☆☆☆
Found in Text Mining only
Congenital atresia of extrahepatic bile duct Extrahepatic Biliary Atresia BEFREE 21390152
★☆☆☆☆
Found in Text Mining only
Congenital cataract Congenital Cataract BEFREE 25358429
★☆☆☆☆
Found in Text Mining only
Esophageal Squamous Cell Carcinoma Esophageal squamous cell carcinoma Pubtator 38014487 Associate
★☆☆☆☆
Found in Text Mining only
Global developmental delay Developmental Delay HPO_DG
★☆☆☆☆
Found in Text Mining only
Hypoxia Hypoxia Pubtator 33351148 Associate
★☆☆☆☆
Found in Text Mining only