Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
112755
Gene name Gene Name - the full gene name approved by the HGNC.
Syntaxin 1B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
STX1B
Synonyms (NCBI Gene) Gene synonyms aliases
GEFSP9, STX1B1, STX1B2
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p11.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601485 18539 ENSG00000099365
Protein
UniProt ID 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
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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
Epilepsy With Febrile Seizures Plus generalized epilepsy with febrile seizures plus, type 9 rs2056626672, rs1567379671, rs780843272, rs1567378099, rs1596714308, rs1596716888, rs1596717264, rs1596714579, rs724159973, rs781210585, rs200979563, rs1596719437, rs724159974, rs2056596353, rs727502806 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
Generalized Epilepsy With Febrile Seizures Plus generalized epilepsy with febrile seizures plus N/A N/A GenCC
Neuroticism Neuroticism N/A N/A GWAS
Psoriasis Psoriasis N/A N/A GWAS
Psoriasis vulgaris Psoriasis vulgaris N/A N/A GWAS
Associations from Text Mining Disease 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