STXBP5L (syntaxin binding protein 5L)

2014-08-01  

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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
195866762009Multiple variants in toll-like receptor 4 gene modulate risk of liver fibrosis in Caucasians with chronic hepatitis C infection.23
232231462013A genome-wide association study in Caucasian women points out a putative role of the STXBP5L gene in facial photoaging.4
255040452015Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.0
255040452015Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.0

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)