SBSPON (somatomedin B and thrombospondin type 1 domain containing)

2014-11-01  

Identity

HGNC
LOCATION
8q21.11
LOCUSID
ALIAS
C8orf84,RPESP
FUSION GENES

Other Information

Locus ID:

NCBI: 157869
HGNC: 30362
Ensembl: ENSG00000164764

Variants:

dbSNP: 157869
ClinVar: 157869
TCGA: ENSG00000164764
COSMIC: SBSPON

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164764ENST00000297354Q8IVN8

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

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

Citation

Dessen P

SBSPON (somatomedin B and thrombospondin type 1 domain containing)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72993/js/lib/humanGenome