Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8676
Gene name Gene Name - the full gene name approved by the HGNC.
Syntaxin 11
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
STX11
Synonyms (NCBI Gene) Gene synonyms aliases
FHL4, HLH4, HPLH4
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q24.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605014 11429 ENSG00000135604
Protein
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hemophagocytic Lymphohistiocytosis Familial hemophagocytic lymphohistiocytosis 4, familial hemophagocytic lymphohistiocytosis rs483352901, rs104893996, rs431905512, rs794729649, rs1584062332 N/A
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
Autoinflammatory Disease Autoinflammatory syndrome N/A N/A ClinVar
Associations from Text Mining Disease 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