SSPOP (SCO-spondin, pseudogene)

2014-11-01  

Identity

HGNC
LOCATION
7q36.1
LOCUSID
ALIAS
SSPO

Other Information

Locus ID:

NCBI: 23145
MIM: 617356
HGNC: 21998
Ensembl: ENSG00000197558

Variants:

dbSNP: 23145
ClinVar: 23145
TCGA: ENSG00000197558
COSMIC: SSPOP

RNA/Proteins

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

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
150539802004Placental expression of SCO-spondin during mouse and human development.1

Citation

Dessen P

SSPOP (SCO-spondin, pseudogene)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74261/sspop