STX8 (syntaxin 8)

Gene

• 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)

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
GO:0005770	Component	Late endosome	IDA	10564279
GO:0005770	Component	Late endosome	IEA
GO:0005770	Component	Late endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	TAS	9852078
GO:0005802	Component	Trans-Golgi network	IDA	10564279
GO:0005886	Component	Plasma membrane	TAS	10198254
GO:0006886	Process	Intracellular protein transport	IBA
GO:0006906	Process	Vesicle fusion	IBA
GO:0012505	Component	Endomembrane system	IBA
GO:0016020	Component	Membrane	IEA
GO:0019869	Function	Chloride channel inhibitor activity	IDA	18570918
GO:0019905	Function	Syntaxin binding	IPI	10564279
GO:0031201	Component	SNARE complex	IBA
GO:0031625	Function	Ubiquitin protein ligase binding	IEA
GO:0031982	Component	Vesicle	IDA	18570918
GO:0045022	Process	Early endosome to late endosome transport	IDA	10564279
GO:0045335	Component	Phagocytic vesicle	IEA
GO:0048278	Process	Vesicle docking	IBA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	18570918
GO:0055037	Component	Recycling endosome	IDA	18570918
GO:0071346	Process	Cellular response to type II interferon	IEA
GO:1903076	Process	Regulation of protein localization to plasma membrane	IDA	18570918

Other IDs

• MIM: 604203
• HGNC: 11443
• e!Ensembl: ENSG00000170310

Protein

• 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

Pathways

KEGG:

SNARE interactions in vesicular transport

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEROPIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSTRUCTIVE SLEEP APNEA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Asthma	Asthma	Pubtator	36206293	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	33858444	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	31481560		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	25523146		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	28736931		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	25523146		★☆☆☆☆ Found in Text Mining only