STX1B Chromosome 16
Syntaxin 1B
Upload your DNA to see your personal genotypes for variants in STX1B.
What This Gene Does
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 transmitters from neurons plays an important role in synaptic transmission. After exocytosis, the membrane and proteins from the vesicle are retrieved from the plasma membrane through the process of endocytosis. Mutations in this gene have been identified as one cause of fever-associated epilepsy syndromes. A possible link between this gene and Parkinson's disease has also been suggested. [provided by RefSeq, Jan 2015]
Gene Info
Gene Group
Syntaxins
Locus Type
gene with protein product
Location
16p11.2
Ensembl
ENSG00000099365
Associated Conditions (7)
Generalized epilepsy with febrile seizures plus
type 9
Inborn genetic diseases
STX1B-related disorder
Seizure
Epileptic encephalopathy
Neurodevelopmental disorder
Key Variants
RS1596716834
Conflicting classifications of pathogenicity
Generalized epilepsy with febrile seizures plus, type 9, Inborn genetic diseases
Health Risk
RS202077851
Conflicting classifications of pathogenicity
Generalized epilepsy with febrile seizures plus, type 9, Generalized epilepsy with febrile seizures plus
Health Risk
RS368619665
Conflicting classifications of pathogenicity
Generalized epilepsy with febrile seizures plus, type 9, Inborn genetic diseases
Health Risk
RS576127046
Conflicting classifications of pathogenicity
Generalized epilepsy with febrile seizures plus, type 9, Inborn genetic diseases
Health Risk
RS750185897
Conflicting classifications of pathogenicity
Generalized epilepsy with febrile seizures plus, type 9, Inborn genetic diseases
Health Risk
RS758008534
Conflicting classifications of pathogenicity
Generalized epilepsy with febrile seizures plus, type 9, Generalized epilepsy with febrile seizures plus
Health Risk
RS760876430
Conflicting classifications of pathogenicity
Generalized epilepsy with febrile seizures plus, type 9, Inborn genetic diseases
Health Risk
RS763428520
Conflicting classifications of pathogenicity
Generalized epilepsy with febrile seizures plus, type 9, Inborn genetic diseases
Health Risk
RS995045434
Conflicting classifications of pathogenicity
Generalized epilepsy with febrile seizures plus, type 9, Seizure
Health Risk
RS1555493906
Likely pathogenic
Health Risk
RS1555494259
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1567379470
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (62)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1596716834 | Health Risk | Conflicting classifications of pathogenicity | Generalized epilepsy with febrile seizures plus, type 9, Inborn genetic diseases |
| RS202077851 | Health Risk | Conflicting classifications of pathogenicity | Generalized epilepsy with febrile seizures plus, type 9, Generalized epilepsy with febrile seizures plus |
| RS368619665 | Health Risk | Conflicting classifications of pathogenicity | Generalized epilepsy with febrile seizures plus, type 9, Inborn genetic diseases |
| RS576127046 | Health Risk | Conflicting classifications of pathogenicity | Generalized epilepsy with febrile seizures plus, type 9, Inborn genetic diseases |
| RS750185897 | Health Risk | Conflicting classifications of pathogenicity | Generalized epilepsy with febrile seizures plus, type 9, Inborn genetic diseases |
| RS758008534 | Health Risk | Conflicting classifications of pathogenicity | Generalized epilepsy with febrile seizures plus, type 9, Generalized epilepsy with febrile seizures plus |
| RS760876430 | Health Risk | Conflicting classifications of pathogenicity | Generalized epilepsy with febrile seizures plus, type 9, Inborn genetic diseases |
| RS763428520 | Health Risk | Conflicting classifications of pathogenicity | Generalized epilepsy with febrile seizures plus, type 9, Inborn genetic diseases |
| RS995045434 | Health Risk | Conflicting classifications of pathogenicity | Generalized epilepsy with febrile seizures plus, type 9, Seizure |
| RS1555493906 | Health Risk | Likely pathogenic | — |
| RS1555494259 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1567379470 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1596714308 | Health Risk | Likely pathogenic | Generalized epilepsy with febrile seizures plus, type 9, Generalized epilepsy with febrile seizures plus |
| RS1596714579 | Health Risk | Likely pathogenic | Generalized epilepsy with febrile seizures plus, type 9, Generalized epilepsy with febrile seizures plus |
| RS2056572481 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2056573081 | Health Risk | Likely pathogenic | Generalized epilepsy with febrile seizures plus, type 9, Generalized epilepsy with febrile seizures plus |
| RS2056602388 | Health Risk | Likely pathogenic | Generalized epilepsy with febrile seizures plus, type 9, Generalized epilepsy with febrile seizures plus |
| RS2056625682 | Health Risk | Likely pathogenic | Generalized epilepsy with febrile seizures plus, type 9, Generalized epilepsy with febrile seizures plus |
| RS2056626672 | Health Risk | Likely pathogenic | Generalized epilepsy with febrile seizures plus, type 9, Generalized epilepsy with febrile seizures plus |
| RS2143661479 | Health Risk | Likely pathogenic | Epileptic encephalopathy, Epileptic encephalopathy |
| RS2143661528 | Health Risk | Likely pathogenic | Generalized epilepsy with febrile seizures plus, type 9, Generalized epilepsy with febrile seizures plus |
| RS2143669495 | Health Risk | Likely pathogenic | Generalized epilepsy with febrile seizures plus, type 9, Generalized epilepsy with febrile seizures plus |
| RS2143670818 | Health Risk | Likely pathogenic | Generalized epilepsy with febrile seizures plus, type 9, Generalized epilepsy with febrile seizures plus |
| RS2143671063 | Health Risk | Likely pathogenic | Generalized epilepsy with febrile seizures plus, type 9, Generalized epilepsy with febrile seizures plus |
| RS2143677612 | Health Risk | Likely pathogenic | Generalized epilepsy with febrile seizures plus, type 9, Generalized epilepsy with febrile seizures plus |
| RS2543954791 | Health Risk | Likely pathogenic | Generalized epilepsy with febrile seizures plus, type 9, Generalized epilepsy with febrile seizures plus |
| RS2543960013 | Health Risk | Likely pathogenic | Generalized epilepsy with febrile seizures plus, type 9, Generalized epilepsy with febrile seizures plus |
| RS2543960014 | Health Risk | Likely pathogenic | Generalized epilepsy with febrile seizures plus, type 9, Generalized epilepsy with febrile seizures plus |
| RS2543960999 | Health Risk | Likely pathogenic | Generalized epilepsy with febrile seizures plus, type 9, Generalized epilepsy with febrile seizures plus |
| RS2543961096 | Health Risk | Likely pathogenic | Generalized epilepsy with febrile seizures plus, type 9, Generalized epilepsy with febrile seizures plus |
| RS2543975472 | Health Risk | Likely pathogenic | Generalized epilepsy with febrile seizures plus, type 9, Generalized epilepsy with febrile seizures plus |
| RS762705451 | Health Risk | Likely pathogenic | Generalized epilepsy with febrile seizures plus, type 9, Generalized epilepsy with febrile seizures plus |
| RS781210585 | Health Risk | Likely pathogenic | Generalized epilepsy with febrile seizures plus, type 9, Generalized epilepsy with febrile seizures plus |
| RS868539367 | Health Risk | Likely pathogenic | Generalized epilepsy with febrile seizures plus, type 9, Generalized epilepsy with febrile seizures plus |
| RS1555494222 | Health Risk | Pathogenic | Generalized epilepsy with febrile seizures plus, type 9, Generalized epilepsy with febrile seizures plus |
| RS1567379671 | Health Risk | Pathogenic | Generalized epilepsy with febrile seizures plus, type 9, Generalized epilepsy with febrile seizures plus |
| RS1596714750 | Health Risk | Pathogenic | — |
| RS1596716888 | Health Risk | Pathogenic | Generalized epilepsy with febrile seizures plus, type 9, Generalized epilepsy with febrile seizures plus |
| RS1596717264 | Health Risk | Pathogenic | Generalized epilepsy with febrile seizures plus, type 9, Generalized epilepsy with febrile seizures plus |
| RS1596719437 | Health Risk | Pathogenic | Generalized epilepsy with febrile seizures plus, type 9, Generalized epilepsy with febrile seizures plus |
| RS200979563 | Health Risk | Pathogenic | Generalized epilepsy with febrile seizures plus, type 9, Neurodevelopmental disorder |
| RS2056596353 | Health Risk | Pathogenic | Generalized epilepsy with febrile seizures plus, type 9, Generalized epilepsy with febrile seizures plus |
| RS2056624422 | Health Risk | Pathogenic | Generalized epilepsy with febrile seizures plus, type 9, Generalized epilepsy with febrile seizures plus |
| RS2143669286 | Health Risk | Pathogenic | Generalized epilepsy with febrile seizures plus, type 9, Generalized epilepsy with febrile seizures plus |
| RS2143670891 | Health Risk | Pathogenic | Generalized epilepsy with febrile seizures plus, type 9, Generalized epilepsy with febrile seizures plus |
| RS2143671037 | Health Risk | Pathogenic | Generalized epilepsy with febrile seizures plus, Generalized epilepsy with febrile seizures plus |
| RS2143677618 | Health Risk | Pathogenic | Generalized epilepsy with febrile seizures plus, type 9, Generalized epilepsy with febrile seizures plus |
| RS2143677745 | Health Risk | Pathogenic | Generalized epilepsy with febrile seizures plus, type 9, Generalized epilepsy with febrile seizures plus |
| RS2543953753 | Health Risk | Pathogenic | Generalized epilepsy with febrile seizures plus, type 9, Generalized epilepsy with febrile seizures plus |
| RS2543959973 | Health Risk | Pathogenic | Generalized epilepsy with febrile seizures plus, type 9, Generalized epilepsy with febrile seizures plus |