TSPAN18 (tetraspanin 18)

2014-11-01  

Identity

HGNC
TSPAN18
LOCATION
11p11.2
LOCUSID
90139
ALIAS
TSPAN
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 90139
HGNC: 20660
Ensembl: ENSG00000157570

Variants:

dbSNP: 90139
ClinVar: 90139
TCGA: ENSG00000157570
COSMIC: TSPAN18

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000157570ENST00000340160Q96SJ8
ENSG00000157570ENST00000518429H0YB98
ENSG00000157570ENST00000520358Q96SJ8
ENSG00000157570ENST00000520837E5RFP3
ENSG00000157570ENST00000520999E5RFV0
ENSG00000157570ENST00000533080E9PL40
ENSG00000157570ENST00000533202E9PPB7
ENSG00000157570ENST00000533786E9PKD8

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
235055622013Replication study confirms link between TSPAN18 mutation and schizophrenia in Han Chinese.9
305735092019Tspan18 is a novel regulator of the Ca2+ channel Orai1 and von Willebrand factor release in endothelial cells.5
260164982015Lack of Association between the TSPAN18 Gene and Schizophrenia Based on New Data from Han Chinese and a Meta-Analysis.3
273125902016GWAS-identified schizophrenia risk SNPs at TSPAN18 are highly diverged between Europeans and East Asians.3
272085122016Study of the tetraspanin 18 association with schizophrenia in a Han Chinese population.1

Citation

Dessen P

TSPAN18 (tetraspanin 18)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75235/tspan18