Gene Gene information from NCBI Gene database.
Entrez ID 8676
Gene name Syntaxin 11
Gene symbol STX11
Synonyms (NCBI Gene)
FHL4HLH4HPLH4
Chromosome 6
Chromosome location 6q24.2
Summary This gene encodes a member of the syntaxin family. Syntaxins have been implicated in the targeting and fusion of intracellular transport vesicles. This family member may regulate protein transport among late endosomes and the trans-Golgi network. Mutation
SNPs SNP information provided by dbSNP.
8
SNP ID Visualize variation Clinical significance Consequence
rs104893996 C>T Pathogenic Coding sequence variant, genic downstream transcript variant, stop gained
rs397725572 ->A Conflicting-interpretations-of-pathogenicity 3 prime UTR variant, genic downstream transcript variant
rs431905512 T>C Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant, genic downstream transcript variant
rs483352901 AGTGGCGC>TGG Pathogenic Frameshift variant, coding sequence variant, genic downstream transcript variant
rs794729649 C>T Likely-pathogenic Genic downstream transcript variant, stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
329
miRTarBase ID miRNA Experiments Reference
MIRT002522 hsa-miR-373-3p Microarray 15685193
MIRT483556 hsa-miR-136-3p PAR-CLIP 20371350
MIRT483555 hsa-miR-5188 PAR-CLIP 20371350
MIRT483554 hsa-miR-3185 PAR-CLIP 20371350
MIRT483553 hsa-miR-15b-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0000149 Function SNARE binding IBA
GO:0005484 Function SNAP receptor activity IBA
GO:0005484 Function SNAP receptor activity IEA
GO:0005484 Function SNAP receptor activity TAS 9553086
GO:0005515 Function Protein binding IPI 16189514, 19804848, 19884660, 21900206, 21988832, 24722188, 25416956, 25910212, 26871637, 28514442, 30886144, 32296183, 32814053, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605014 11429 ENSG00000135604
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75558
Protein name Syntaxin-11
Protein function SNARE that acts to regulate protein transport between late endosomes and the trans-Golgi network.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00804 Syntaxin 41 239 Syntaxin Domain
Sequence
Sequence length 287
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.
413
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial hemophagocytic lymphohistiocytosis Pathogenic; Likely pathogenic rs431905512, rs2533806916 RCV004700400
RCV002510470
Familial hemophagocytic lymphohistiocytosis 4 Pathogenic; Likely pathogenic rs431905512, rs143547259, rs758032054, rs2128757192, rs1317576992, rs794729649, rs483352901, rs104893996, rs2533803743, rs2533804808, rs754223770, rs770563158, rs2533803639, rs1013453454, rs1446340815
View all (9 more)
RCV000083252
RCV001925648
RCV001939692
RCV002246747
RCV002246748
RCV000185559
RCV000005579
RCV000005581
RCV003463571
RCV003466421
RCV003463572
RCV003463574
RCV003463575
RCV003463576
RCV003463577
RCV003466422
RCV003463578
RCV003463579
RCV003504620
RCV003505701
RCV003613909
RCV004573680
RCV004573681
RCV000987797
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autoinflammatory syndrome Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity rs777558264, rs527278192, rs751130386, rs756068979, rs17073498, rs146949718, rs45574234, rs9496891, rs760492745, rs141499372, rs540150447 RCV002264512
RCV002264513
RCV002264514
RCV002264515
RCV002262882
RCV002262883
RCV002262884
RCV002262885
RCV002263648
RCV002263649
RCV002264117
Cervical cancer Benign rs111644678 RCV005899045
STX11-related disorder Likely benign; Conflicting classifications of pathogenicity rs1802058064, rs759501406, rs141499372, rs540150447, rs145774130, rs143547259, rs201775530 RCV003919304
RCV003901238
RCV003932468
RCV003928563
RCV003972969
RCV004757324
RCV003978119
Uterine corpus endometrial carcinoma Benign rs111644678 RCV005899046
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Airway Remodeling Associate 37165378
Drug Related Side Effects and Adverse Reactions Associate 17785771, 21342435, 29599780
Epileptic Syndromes Associate 32076423
Hematologic Diseases Associate 31562900
Hemophagocytic lymphohistiocytosis familial 4 Associate 17525286, 19967551, 24227526, 24910990, 31770233
Hemophagocytic Lymphohistiocytosis Familial 5 Associate 19804848
Hemophagocytic Lymphohistiocytosis Familial 5 Inhibit 22791290
Hemorrhage Associate 28399723
Idiopathic Pulmonary Fibrosis Associate 33672678
Immunologic Deficiency Syndromes Associate 26771955, 31562900