STX8 (syntaxin 8)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9482
Gene name Gene Name - the full gene name approved by the HGNC.
Syntaxin 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
STX8
Synonyms (NCBI Gene) Gene synonyms aliases
CARB
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.1
Summary Summary of gene provided in NCBI Entrez Gene.
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 information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604203 11443 ENSG00000170310
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  SNARE interactions in vesicular transport  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Borderline personality disorder Borderline personality disorder N/A N/A GWAS
Glioblastoma Glioblastoma N/A N/A GWAS
Hyperopia Hyperopia N/A N/A GWAS
Show/Hide Text Mining Associations (5)
Associations from Text Mining Disease 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