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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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STX1B
syntaxin 1B
Chromosome 16 Β· 16p11.2
NCBI Gene: 112755Ensembl: ENSG00000099365.12HGNC: HGNC:18539UniProt: P61266
39PubMed Papers
21Diseases
0Drugs
69Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTransporter
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingexocytosispresynaptic active zone membranevesicle docking involved in exocytosisGeneralized epilepsy with febrile seizures-plusgeneralized epilepsy with febrile seizures plusgenetic disorderNeurodevelopmental disorder
✦AI Summary

STX1B encodes syntaxin-1B, a presynaptic protein that mediates synaptic vesicle docking and fusion at the active zone through SNARE complex formation 1. The protein regulates neurotransmitter release by controlling calcium-dependent exocytosis and interacts functionally with STXBP1-encoded proteins essential for synaptic transmission 2. STX1B mutations cause a diverse spectrum of epilepsy syndromes spanning from benign febrile seizures to severe developmental encephalopathies. Loss-of-function mutations typically produce milder phenotypes with good drug responsiveness, while missense variants in the SNARE motif associate with intractable seizures, developmental regression, and neuropsychiatric complications 3. The most common association is generalized epilepsy with febrile seizures plus (GEFS+) 4, though variants also cause myoclonic-astatic epilepsy and other focal epilepsies 2. Functional studies in zebrafish with stx1b knockdown demonstrate seizure-like behavior and temperature-sensitive epileptiform discharges, with wild-type human syntaxin-1B but not mutant protein rescuing these deficits 1. Beyond neurology, STX1B polymorphisms show association with Parkinson's disease susceptibility 5. Recent structural studies define STX1B protein interaction interfaces relevant to disease pathogenesis 6.

Sources cited
1
STX1B encodes syntaxin-1B, a presynaptic protein involved in synaptic vesicle docking/fusion and SNARE complex formation; mutations cause fever-associated epilepsy syndromes
PMID: 25362483
2
STX1B variants produce diverse epilepsy phenotypes; loss-of-function mutations cause benign seizures with good drug response; SNARE motif missense variants associate with intractable seizures and developmental regression
PMID: 30737342
3
STX1B mutations cause GEFS+ with variable phenotypic severity and incomplete penetrance; seizures are typically responsive to antiepileptic drugs
PMID: 30818898
4
STX1B haploinsufficiency is associated with myoclonic-astatic epilepsy; STX1B interacts with STXBP1-encoded protein for neurotransmitter regulation
PMID: 26818399
5
STX1B polymorphism rs4889603 is associated with Parkinson's disease susceptibility
PMID: 25534083
6
STX1B protein interaction interfaces with FBXO23 and VAMP2 have been structurally resolved and experimentally validated
PMID: 38225382
Disease Associationsβ“˜21
Generalized epilepsy with febrile seizures-plusOpen Targets
0.81Strong
generalized epilepsy with febrile seizures plusOpen Targets
0.52Moderate
genetic disorderOpen Targets
0.48Moderate
Neurodevelopmental disorderOpen Targets
0.37Weak
botulismOpen Targets
0.37Weak
SeizureOpen Targets
0.34Weak
generalized epilepsyOpen Targets
0.34Weak
Epileptic encephalopathyOpen Targets
0.27Weak
neonatal hemochromatosisOpen Targets
0.12Weak
major salivary gland cancerOpen Targets
0.10Weak
asthmaOpen Targets
0.10Weak
epilepsyOpen Targets
0.09Suggestive
diverticular diseaseOpen Targets
0.07Suggestive
psoriasisOpen Targets
0.07Suggestive
lens diseaseOpen Targets
0.07Suggestive
lower respiratory tract diseaseOpen Targets
0.07Suggestive
Chronic Obstructive AsthmaOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.06Suggestive
type 2 diabetes mellitusOpen Targets
0.05Suggestive
mathematical abilityOpen Targets
0.05Suggestive
Generalized epilepsy with febrile seizures plus 9UniProt
Pathogenic Variants69
NM_052874.5(STX1B):c.733C>T (p.Arg245Ter)Pathogenic
Generalized epilepsy with febrile seizures plus, type 9|Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 245
NM_052874.5(STX1B):c.214C>T (p.Gln72Ter)Pathogenic
Generalized epilepsy with febrile seizures plus, type 9|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 72
NM_052874.5(STX1B):c.394G>T (p.Glu132Ter)Pathogenic
not provided|Generalized epilepsy with febrile seizures plus, type 9
β˜…β˜…β˜†β˜†2022β†’ Residue 132
NM_052874.5(STX1B):c.613G>T (p.Glu205Ter)Pathogenic
Generalized epilepsy with febrile seizures plus, type 9
β˜…β˜†β˜†β˜†2026β†’ Residue 205
NM_052874.5(STX1B):c.846dup (p.Gly283fs)Pathogenic
Generalized epilepsy with febrile seizures plus, type 9
β˜…β˜†β˜†β˜†2025β†’ Residue 283
NM_052874.5(STX1B):c.725dup (p.Tyr242Ter)Pathogenic
Generalized epilepsy with febrile seizures plus, type 9
β˜…β˜†β˜†β˜†2025β†’ Residue 242
NM_052874.5(STX1B):c.19G>A (p.Glu7Lys)Likely pathogenic
Generalized epilepsy with febrile seizures plus, type 9
β˜…β˜†β˜†β˜†2025β†’ Residue 7
NM_052874.5(STX1B):c.815del (p.Val272fs)Pathogenic
Generalized epilepsy with febrile seizures plus, type 9
β˜…β˜†β˜†β˜†2025β†’ Residue 272
NM_052874.5(STX1B):c.675+1G>ALikely pathogenic
Generalized epilepsy with febrile seizures plus, type 9
β˜…β˜†β˜†β˜†2025
NM_052874.5(STX1B):c.252_257delinsAT (p.Ala85fs)Pathogenic
Generalized epilepsy with febrile seizures plus, type 9
β˜…β˜†β˜†β˜†2024β†’ Residue 85
NM_052874.5(STX1B):c.2T>A (p.Met1Lys)Pathogenic
Generalized epilepsy with febrile seizures plus, type 9
β˜…β˜†β˜†β˜†2024β†’ Residue 1
NM_052874.5(STX1B):c.451C>T (p.Gln151Ter)Pathogenic
Generalized epilepsy
β˜…β˜†β˜†β˜†2024β†’ Residue 151
NM_052874.5(STX1B):c.105+1_105+2delinsAALikely pathogenic
Generalized epilepsy with febrile seizures plus, type 9
β˜…β˜†β˜†β˜†2024
NM_052874.5(STX1B):c.565C>T (p.Gln189Ter)Pathogenic
Generalized epilepsy with febrile seizures plus, type 9
β˜…β˜†β˜†β˜†2024β†’ Residue 189
NM_052874.5(STX1B):c.464-1G>TLikely pathogenic
Generalized epilepsy with febrile seizures plus, type 9
β˜…β˜†β˜†β˜†2024
NM_052874.5(STX1B):c.205+2T>CLikely pathogenic
Generalized epilepsy with febrile seizures plus, type 9
β˜…β˜†β˜†β˜†2024
NM_052874.5(STX1B):c.430T>C (p.Cys144Arg)Pathogenic
Generalized epilepsy with febrile seizures plus, type 9
β˜…β˜†β˜†β˜†2024β†’ Residue 144
NM_052874.5(STX1B):c.355-1G>ALikely pathogenic
Generalized epilepsy with febrile seizures plus, type 9
β˜…β˜†β˜†β˜†2024
NM_052874.5(STX1B):c.463+1G>APathogenic
Generalized epilepsy with febrile seizures plus, type 9
β˜…β˜†β˜†β˜†2023
NM_052874.5(STX1B):c.786+1G>APathogenic
Generalized epilepsy with febrile seizures plus, type 9
β˜…β˜†β˜†β˜†2023
View on ClinVar β†—
Related Genes
NSFProtein interaction100%STXBP3Protein interaction100%VAMP1Protein interaction100%VAMP2Protein interaction100%VAMP7Protein interaction100%SYT1Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Liver
19%
Bone Marrow
6%
Heart
4%
Ovary
4%
Lung
1%
Gene Interaction Network
Click a node to explore
STX1BNSFSTXBP3VAMP1VAMP2VAMP7SYT1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P61266
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.31Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.16 [0.08–0.31]
RankingsWhere STX1B stands among ~20K protein-coding genes
  • #10,406of 20,598
    Most Researched39
  • #1,059of 5,498
    Most Pathogenic Variants69 Β· top quartile
  • #1,208of 17,882
    Most Constrained (LOEUF)0.31 Β· top 10%
Genes detectedSTX1B
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Systematic discovery of protein interaction interfaces using AlphaFold and experimental validation.
PMID: 38225382
Mol Syst Biol Β· 2024
1.00
2
Clinical spectrum of
PMID: 30737342
Neurology Β· 2019
0.90
3
[A novel inherited STX1B mutation associated with generalized epilepsy with febrile seizures plus: a family analysis and literature review].
PMID: 30818898
Zhonghua Er Ke Za Zhi Β· 2019
0.80
4
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
PMID: 25362483
Nat Genet Β· 2014
0.70
5
Generation of an induced pluripotent stem cell (iPSC) line from a patient with GEFS+ carrying a STX1B (p.Lys45delinsArgMetCysIleGlu and p.Leu46Met) mutation.
PMID: 36652844
Stem Cell Res Β· 2023
0.60