THSD7B (thrombospondin type 1 domain containing 7B)

2014-11-01  

Identity

HGNC
LOCATION
2q22.1
LOCUSID
ALIAS
-
FUSION GENES

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

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443309AlcoholismDiseaseClinicalAnnotationassociatedPD32451486
PA448073ethanolChemicalClinicalAnnotationassociatedPD32451486

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
217036342011A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.35

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