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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Epileptic encephalopathy Likely pathogenic rs2143661479 RCV001849248
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Generalized epilepsy with febrile seizures plus Pathogenic rs2143671037 RCV001786324
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (42 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder Pathogenic rs200979563 RCV001374902
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
EPILEPSY CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EPILEPSY, GENERALIZED Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FEBRILE CONVULSIONS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GENETIC EPILEPSY WITH FEBRILE SEIZURE PLUS Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 29378629 Associate
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder HPO_DG
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 29378629
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 29378629 Associate
★☆☆☆☆
Found in Text Mining only
Autistic behavior Autism HPO_DG
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 25101798 Associate
★☆☆☆☆
Found in Text Mining only
Awakening Epilepsy Epilepsy CTD_human_DG 25362483
★☆☆☆☆
Found in Text Mining only
Complex partial seizure with impairment of consciousness Dyscognitive seizures HPO_DG
★☆☆☆☆
Found in Text Mining only
Complex partial seizures Seizure HPO_DG
★☆☆☆☆
Found in Text Mining only
Cortical Dysplasia Cortical Dysplasia HPO_DG
★☆☆☆☆
Found in Text Mining only