STXBP5L (syntaxin binding protein 5L)

2014-08-01   Dessen P  

Identity

HGNC
STXBP5L
LOCATION
3q13.33
LOCUSID
9515
ALIAS
LLGL4
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9515
MIM: 609381
HGNC: 30757
Ensembl: ENSG00000145087

Variants:

dbSNP: 9515
ClinVar: 9515
TCGA: ENSG00000145087
COSMIC: STXBP5L

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000145087ENST00000273666Q9Y2K9
ENSG00000145087ENST00000461772Q9Y2K9
ENSG00000145087ENST00000471262C9JQS3
ENSG00000145087ENST00000471454E9PFI2
ENSG00000145087ENST00000472879C9K0E4
ENSG00000145087ENST00000492541C9JCY1
ENSG00000145087ENST00000495504C9JUZ7
ENSG00000145087ENST00000497029C9JPK3

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
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

References

Pubmed IDYearTitleCitations
370546262023Novel genetic variants linked to prelabor rupture of membranes among Chinese pregnant women.0
370546262023Novel genetic variants linked to prelabor rupture of membranes among Chinese pregnant women.0
255040452015Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.10
255040452015Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.10
255040452015Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.10
255040452015Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.10
232231462013A genome-wide association study in Caucasian women points out a putative role of the STXBP5L gene in facial photoaging.6
232231462013A genome-wide association study in Caucasian women points out a putative role of the STXBP5L gene in facial photoaging.6
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
195866762009Multiple variants in toll-like receptor 4 gene modulate risk of liver fibrosis in Caucasians with chronic hepatitis C infection.26
195866762009Multiple variants in toll-like receptor 4 gene modulate risk of liver fibrosis in Caucasians with chronic hepatitis C infection.26

Citation

Dessen P

STXBP5L (syntaxin binding protein 5L)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54675/stxbp5l-(syntaxin-binding-protein-5l)