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(29)
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 16189514, 21516116, 25416956, 28514442, 30833792, 31515488, 32296183
GO:0005765 Component Lysosomal membrane IEA
GO:0005768 Component 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  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)		 28736931
Show/Hide Unknown Diseases (3)
Unknown
Disease term Disease name Evidence References Source
Hyperopia Hyperopia GWAS
Borderline personality disorder Borderline personality disorder GWAS
Glioblastoma Glioblastoma CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587 GWAS, CBGDA
Show/Hide Text Mining Associations (5)
Associations from Text Mining
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