Identity
HGNC
LOCATION
16p11.2
LOCUSID
ALIAS
GEFSP9,STX1B1,STX1B2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 112755
MIM: 601485
HGNC: 18539
Ensembl: ENSG00000099365
Variants:
dbSNP: 112755
ClinVar: 112755
TCGA: ENSG00000099365
COSMIC: STX1B
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000099365 | ENST00000215095 | P61266 |
| ENSG00000099365 | ENST00000565419 | P61266 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA166123431 | heart valve replacement | Disease | ClinicalAnnotation | associated | PD | 27740732 | |
| PA451906 | warfarin | Chemical | ClinicalAnnotation | associated | PD | 27740732 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33677401 | 2021 | Delineation of epileptic and neurodevelopmental phenotypes associated with variants in STX1B. | 3 |
| 34764822 | 2021 | Syntaxin-1 and Insulinoma-Associated Protein 1 Expression in Breast Neoplasms with Neuroendocrine Features. | 2 |
| 33677401 | 2021 | Delineation of epileptic and neurodevelopmental phenotypes associated with variants in STX1B. | 3 |
| 34764822 | 2021 | Syntaxin-1 and Insulinoma-Associated Protein 1 Expression in Breast Neoplasms with Neuroendocrine Features. | 2 |
| 30737342 | 2019 | Clinical spectrum of STX1B-related epileptic disorders. | 23 |
| 30737342 | 2019 | Clinical spectrum of STX1B-related epileptic disorders. | 23 |
| 30378543 | 2018 | Sleep-related hypermotor epilepsy and peri-ictal hypotension in a patient with syntaxin-1B mutation. | 5 |
| 30378543 | 2018 | Sleep-related hypermotor epilepsy and peri-ictal hypotension in a patient with syntaxin-1B mutation. | 5 |
| 27740732 | 2017 | Identification of novel variants associated with warfarin stable dosage by use of a two-stage extreme phenotype strategy. | 8 |
| 28855684 | 2017 | Massive transcriptome sequencing of human spinal cord tissues provides new insights into motor neuron degeneration in ALS. | 59 |
| 29101845 | 2017 | Motor cortex excitability in seizure-free STX1B mutation carriers with a history of epilepsy and febrile seizures. | 3 |
| 27740732 | 2017 | Identification of novel variants associated with warfarin stable dosage by use of a two-stage extreme phenotype strategy. | 8 |
| 28855684 | 2017 | Massive transcriptome sequencing of human spinal cord tissues provides new insights into motor neuron degeneration in ALS. | 59 |
| 29101845 | 2017 | Motor cortex excitability in seizure-free STX1B mutation carriers with a history of epilepsy and febrile seizures. | 3 |
| 26751406 | 2016 | Impact of GGCX, STX1B and FPGS Polymorphisms on Warfarin Dose Requirements in European-Americans and Egyptians. | 3 |
Citation
Dessen P
STX1B (syntaxin 1B)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56157/stx1b-(syntaxin-1b)
