STXBP4 (syntaxin binding protein 4)

2013-05-01  

Identity

HGNC
STXBP4
LOCATION
17q22
LOCUSID
252983
ALIAS
Synip
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 252983
MIM: 610415
HGNC: 19694
Ensembl: ENSG00000166263

Variants:

dbSNP: 252983
ClinVar: 252983
TCGA: ENSG00000166263
COSMIC: STXBP4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166263ENST00000376352Q6ZWJ1
ENSG00000166263ENST00000398391Q6ZWJ1
ENSG00000166263ENST00000405898B5MCT9
ENSG00000166263ENST00000434978E7EPP7
ENSG00000166263ENST00000463234K7ESN8

Expression (GTEx)

0
1
2
3
4
5
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

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

References

Pubmed IDYearTitleCitations
204160772010Identification of type 2 diabetes-associated combination of SNPs using support vector machine.26
201451382010Common genetic variants associated with breast cancer and mammographic density measures that predict disease.21
194512332009Stxbp4 regulates DeltaNp63 stability by suppression of RACK1-dependent degradation.19
128556812003Syntaxin 4 and Synip (syntaxin 4 interacting protein) regulate insulin secretion in the pancreatic beta HC-9 cell.17
200958542010Novel breast cancer risk alleles and interaction with ionizing radiation among U.S. radiologic technologists.16
228639682012Association of STXBP4/COX11 rs6504950 (G>A) polymorphism with breast cancer risk: evidence from 17,960 cases and 22,713 controls.6
280876422017STXBP4 Drives Tumor Growth and Is Associated with Poor Prognosis through PDGF Receptor Signaling in Lung Squamous Cell Carcinoma.6
297356622018STXBP4 regulates APC/C-mediated p63 turnover and drives squamous cell carcinogenesis.5
276004712016Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs).0
284223182017Computational Analysis of Breast Cancer GWAS Loci Identifies the Putative Deleterious Effect of STXBP4 and ZNF404 Gene Variants.0

Citation

Dessen P

STXBP4 (syntaxin binding protein 4)

Atlas Genet Cytogenet Oncol Haematol. 2013-05-01

Online version: http://atlasgeneticsoncology.org/gene/53286/stxbp4-(syntaxin-binding-protein-4)