Gene Gene information from NCBI Gene database.
Entrez ID 9482
Gene name Syntaxin 8
Gene symbol STX8
Synonyms (NCBI Gene)
CARB
Chromosome 17
Chromosome location 17p13.1
Summary The gene is a member of the syntaxin family. The encoded protein is involved in protein trafficking from early to late endosomes via vesicle fusion and exocytosis. A related pseudogene has been identified on chromosome 12. Alternative splicing results in
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0000149 Function SNARE binding IBA
GO:0005484 Function SNAP receptor activity IBA
GO:0005515 Function Protein binding IPI 16189514, 21516116, 25416956, 28514442, 30833792, 31515488, 32296183, 33961781, 35271311
GO:0005768 Component Endosome IDA 10564279
GO:0005769 Component Early endosome IDA 10564279
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604203 11443 ENSG00000170310
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UNK0
Protein name Syntaxin-8
Protein function Vesicle trafficking protein that functions in the early secretory pathway, possibly by mediating retrograde transport from cis-Golgi membranes to the ER.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05739 SNARE 181 233 SNARE domain Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in heart. Also found in brain, kidney, liver, lung, placenta, skeletal muscle, spleen and pancreas.
Sequence
MAPDPWFSTYDSTCQIAQEIAEKIQQRNQYERKGEKAPKLTVTIRALLQNLKEKIALLKD
LLLRAVSTHQITQLEGDRRQNLLDDLVTRERLLLASFKNEGAEPDLIRSSLMSEEAKRGA
PNPWLFEEPEETRGLGFDEIRQQQQKIIQEQDAGLDALSSIISRQKQMGQEIGNELDEQN
EIIDDLANLVENTDEKLRNETRRVNMVDRKSASCGMIMVILLLLVAIVVVAVWPTN
Sequence length 236
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  SNARE interactions in vesicular transport  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Prostate cancer Uncertain significance rs193920742 RCV000149162
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Asthma Associate 36206293
Diabetes Gestational Associate 33858444
Pre Eclampsia Associate 33858444
Premature Birth Associate 33858444
Stress Disorders Post Traumatic Associate 36206293