Gene Gene information from NCBI Gene database.
Entrez ID 112755
Gene name Syntaxin 1B
Gene symbol STX1B
Synonyms (NCBI Gene)
GEFSP9STX1B1STX1B2
Chromosome 16
Chromosome location 16p11.2
Summary The protein encoded by this gene belongs to a family of proteins thought to play a role in the exocytosis of synaptic vesicles. Vesicle exocytosis releases vesicular contents and is important to various cellular functions. For instance, the secretion of t
SNPs SNP information provided by dbSNP.
21
SNP ID Visualize variation Clinical significance Consequence
rs200979563 G>A,T Pathogenic Stop gained, missense variant, coding sequence variant
rs724159973 G>A Pathogenic Stop gained, coding sequence variant
rs724159974 A>T Pathogenic Missense variant, coding sequence variant
rs727502806 C>G Pathogenic Missense variant, coding sequence variant
rs763428520 A>G,T Uncertain-significance, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
744
miRTarBase ID miRNA Experiments Reference
MIRT038244 hsa-miR-330-5p CLASH 23622248
MIRT712025 hsa-miR-802 HITS-CLIP 19536157
MIRT712024 hsa-miR-545-5p HITS-CLIP 19536157
MIRT712023 hsa-miR-6072 HITS-CLIP 19536157
MIRT712022 hsa-miR-6891-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
59
GO ID Ontology Definition Evidence Reference
GO:0000149 Function SNARE binding IBA
GO:0001956 Process Positive regulation of neurotransmitter secretion IEA
GO:0001956 Process Positive regulation of neurotransmitter secretion ISS
GO:0005102 Function Signaling receptor binding IEA
GO:0005484 Function SNAP receptor activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601485 18539 ENSG00000099365
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P61266
Protein name Syntaxin-1B (Syntaxin-1B1) (Syntaxin-1B2)
Protein function Potentially involved in docking of synaptic vesicles at presynaptic active zones. May mediate Ca(2+)-regulation of exocytosis acrosomal reaction in sperm (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00804 Syntaxin 29 226 Syntaxin Domain
PF05739 SNARE 227 279 SNARE domain Family
Sequence
Sequence length 288
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  SNARE interactions in vesicular transport
Synaptic vesicle cycle
  Toxicity of botulinum toxin type C (BoNT/C)
LGI-ADAM interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
321
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Epileptic encephalopathy Likely pathogenic rs2143661479 RCV001849248
Generalized epilepsy with febrile seizures plus Pathogenic rs2143671037 RCV001786324
Generalized epilepsy with febrile seizures plus, type 9 Pathogenic; Likely pathogenic rs1555494222, rs2143669495, rs2143671063, rs2143670891, rs2143677745, rs2143669286, rs2143677612, rs2143677618, rs2143670818, rs2143677351, rs2143661528, rs724159973, rs200979563, rs724159974, rs727502806
View all (30 more)
RCV001377141
RCV001377658
RCV001379658
RCV001382769
RCV001754560
RCV001994254
RCV002005452
RCV001994460
RCV001961605
RCV001963235
RCV002256960
RCV000149790
RCV000149792
RCV000149793
RCV000149794
RCV002466373
RCV003128375
RCV003140545
RCV003322697
RCV003586439
RCV003586816
RCV003587000
RCV003587655
RCV003751765
RCV003751700
RCV003751788
RCV003752079
RCV003752259
RCV003752529
RCV000687171
RCV001386179
RCV002533855
RCV000812767
RCV000814402
RCV000800861
RCV000989596
RCV000995653
RCV000995654
RCV001004736
RCV001057535
RCV001039659
RCV001216153
RCV001235298
RCV001243161
RCV001237819
RCV001234177
RCV001235757
Neurodevelopmental disorder Pathogenic rs200979563 RCV001374902
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs1114167275, rs2543967113 -
See cases Uncertain significance rs2056574109 RCV003128423
Seizure Conflicting classifications of pathogenicity rs995045434 RCV006262009
STX1B-related disorder Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign rs763428520, rs773649592, rs2543975583, rs61733980, rs1327694789, rs150313069, rs201785193, rs138274964, rs766362162 RCV003967693
RCV003901000
RCV003984441
RCV003905456
RCV004757268
RCV003905773
RCV003918151
RCV003967995
RCV003970483
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 29378629
Asthma Associate 29378629
Autoimmune Diseases Associate 25101798
Congenital Hereditary and Neonatal Diseases and Abnormalities Associate 30737342
Developmental Disabilities Associate 33677401
Epilepsies Partial Associate 33677401
Epilepsy Associate 30737342, 33677401
Epilepsy Generalized Associate 30737342
Epileptic Encephalopathy Early Infantile 3 Associate 33677401
Epileptic Syndromes Associate 30737342, 36652844