Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6809
Gene name Gene Name - the full gene name approved by the HGNC.
Syntaxin 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
STX3
Synonyms (NCBI Gene) Gene synonyms aliases
DIAR12, MVID2, RDMVID, STX3A
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DIAR12, RDMVID
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q12.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000149 Function SNARE binding IBA 21873635
GO:0005484 Function SNAP receptor activity IBA 21873635
GO:0005515 Function Protein binding IPI 18588921, 25416956, 29892012, 31515488, 32296183
GO:0005773 Component Vacuole TAS 16339081
GO:0005886 Component Plasma membrane IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600876 11438 ENSG00000166900
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Unknown
Disease term Disease name Evidence References Source
Microvillus Inclusion Disease retinal dystrophy and microvillus inclusion disease, microvillus inclusion disease GenCC
Associations from Text Mining
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