THSD7B (thrombospondin type 1 domain containing 7B)

2014-11-01   Dessen P  

Identity

HGNC
THSD7B
LOCATION
2q22.1
LOCUSID
80731
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 80731
HGNC: 29348
Ensembl: ENSG00000144229

Variants:

dbSNP: 80731
ClinVar: 80731
TCGA: ENSG00000144229
COSMIC: THSD7B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000144229ENST00000272643Q9C0I4
ENSG00000144229ENST00000413152C9JKN6
ENSG00000144229ENST00000472720R4GMU2

Expression (GTEx)

0
1
2
3
4
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

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
O-linked glycosylationREACTOMER-HSA-5173105
O-glycosylation of TSR domain-containing proteinsREACTOMER-HSA-5173214
DiseaseREACTOMER-HSA-1643685
Diseases of glycosylationREACTOMER-HSA-3781865
Diseases associated with O-glycosylation of proteinsREACTOMER-HSA-3906995
Defective B3GALTL causes Peters-plus syndrome (PpS)REACTOMER-HSA-5083635

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443309AlcoholismDiseaseClinicalAnnotationassociatedPD32451486
PA448073ethanolChemicalClinicalAnnotationassociatedPD32451486

References

Pubmed IDYearTitleCitations
356857672022THSD7B Mutation Induces Platinum Resistance in Small Cell Lung Cancer Patients.3
356857672022THSD7B Mutation Induces Platinum Resistance in Small Cell Lung Cancer Patients.3
217036342011A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.40
217036342011A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.40
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

Citation

Dessen P

THSD7B (thrombospondin type 1 domain containing 7B)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74688/thsd7b-(thrombospondin-type-1-domain-containing-7b)