STX1B (syntaxin 1B)

2016-10-01 Affiliation

Identity

HGNC

STX1B

LOCATION

16p11.2

LOCUSID

112755

ALIAS

GEFSP9,STX1B1,STX1B2

FUSION GENES

Show Gene Fusions

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)

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

Pathway	Source	External ID
SNARE interactions in vesicular transport	KEGG	ko04130
SNARE interactions in vesicular transport	KEGG	hsa04130
Synaptic vesicle cycle	KEGG	ko04721
Synaptic vesicle cycle	KEGG	hsa04721
Disease	REACTOME	R-HSA-1643685
Infectious disease	REACTOME	R-HSA-5663205
Uptake and actions of bacterial toxins	REACTOME	R-HSA-5339562
Neurotoxicity of clostridium toxins	REACTOME	R-HSA-168799
Toxicity of botulinum toxin type C (BoNT/C)	REACTOME	R-HSA-5250971
Developmental Biology	REACTOME	R-HSA-1266738
LGI-ADAM interactions	REACTOME	R-HSA-5682910

Protein levels (Protein atlas)

Not detected

Low

Medium

High

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
25362483	2014	Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.	48
28855684	2017	Massive transcriptome sequencing of human spinal cord tissues provides new insights into motor neuron degeneration in ALS.	19
22360420	2012	Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.	18
25101798	2014	High-density genotyping of immune loci in Kawasaki disease and IVIG treatment response in European-American case-parent trio study.	8
25534083	2015	The RIT2 and STX1B polymorphisms are associated with Parkinson's disease.	7
18691641	2008	Nuclear localization of a novel human syntaxin 1B isoform.	4
26751406	2016	Impact of GGCX, STX1B and FPGS Polymorphisms on Warfarin Dose Requirements in European-Americans and Egyptians.	3
26224037	2015	No association of FAM47E rs6812193, SCARB2 rs6825004 and STX1B rs4889603 polymorphisms with Parkinson's disease in a Chinese Han population.	2
27740732	2017	Identification of novel variants associated with warfarin stable dosage by use of a two-stage extreme phenotype strategy.	2
30737342	2019	Clinical spectrum of STX1B-related epileptic disorders.	2

Citation

Dessen P

STX1B (syntaxin 1B)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56157/stx1b