STX1B (syntaxin 1B)

2016-10-01  

Identity

HGNC
STX1B
LOCATION
16p11.2
LOCUSID
112755
ALIAS
GEFSP9,STX1B1,STX1B2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 112755
MIM: 601485
HGNC: 18539
Ensembl: ENSG00000099365

Variants:

dbSNP: 112755
ClinVar: 112755
TCGA: ENSG00000099365
COSMIC: STX1B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000099365ENST00000215095P61266
ENSG00000099365ENST00000565419P61266

Expression (GTEx)

0
50
100
150
200
250
300
350
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
SNARE interactions in vesicular transportKEGGko04130
SNARE interactions in vesicular transportKEGGhsa04130
Synaptic vesicle cycleKEGGko04721
Synaptic vesicle cycleKEGGhsa04721
DiseaseREACTOMER-HSA-1643685
Infectious diseaseREACTOMER-HSA-5663205
Uptake and actions of bacterial toxinsREACTOMER-HSA-5339562
Neurotoxicity of clostridium toxinsREACTOMER-HSA-168799
Toxicity of botulinum toxin type C (BoNT/C)REACTOMER-HSA-5250971
Developmental BiologyREACTOMER-HSA-1266738
LGI-ADAM interactionsREACTOMER-HSA-5682910

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166123431heart valve replacementDiseaseClinicalAnnotationassociatedPD27740732
PA451906warfarinChemicalClinicalAnnotationassociatedPD27740732

References

Pubmed IDYearTitleCitations
336774012021Delineation of epileptic and neurodevelopmental phenotypes associated with variants in STX1B.3
347648222021Syntaxin-1 and Insulinoma-Associated Protein 1 Expression in Breast Neoplasms with Neuroendocrine Features.2
336774012021Delineation of epileptic and neurodevelopmental phenotypes associated with variants in STX1B.3
347648222021Syntaxin-1 and Insulinoma-Associated Protein 1 Expression in Breast Neoplasms with Neuroendocrine Features.2
307373422019Clinical spectrum of STX1B-related epileptic disorders.23
307373422019Clinical spectrum of STX1B-related epileptic disorders.23
303785432018Sleep-related hypermotor epilepsy and peri-ictal hypotension in a patient with syntaxin-1B mutation.5
303785432018Sleep-related hypermotor epilepsy and peri-ictal hypotension in a patient with syntaxin-1B mutation.5
277407322017Identification of novel variants associated with warfarin stable dosage by use of a two-stage extreme phenotype strategy.8
288556842017Massive transcriptome sequencing of human spinal cord tissues provides new insights into motor neuron degeneration in ALS.59
291018452017Motor cortex excitability in seizure-free STX1B mutation carriers with a history of epilepsy and febrile seizures.3
277407322017Identification of novel variants associated with warfarin stable dosage by use of a two-stage extreme phenotype strategy.8
288556842017Massive transcriptome sequencing of human spinal cord tissues provides new insights into motor neuron degeneration in ALS.59
291018452017Motor cortex excitability in seizure-free STX1B mutation carriers with a history of epilepsy and febrile seizures.3
267514062016Impact 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)