SVEP1 (sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1)

2014-11-01  

Identity

HGNC
LOCATION
9q31.3
LOCUSID
ALIAS
C9orf13,CCP22,POLYDOM,SEL-OB,SELOB
FUSION GENES

Other Information

Locus ID:

NCBI: 79987
MIM: 611691
HGNC: 15985
Ensembl: ENSG00000165124

Variants:

dbSNP: 79987
ClinVar: 79987
TCGA: ENSG00000165124
COSMIC: SVEP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165124ENST00000374461Q4LDE5
ENSG00000165124ENST00000374469Q4LDE5
ENSG00000165124ENST00000401783A0A0A0MSD0

Expression (GTEx)

0
10
20
30
40
50
60
70

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
269345672016Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease.126
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
162062432006Molecular and cellular characterization of SEL-OB/SVEP1 in osteogenic cells in vivo and in vitro.16
226541172012Polydom/SVEP1 is a ligand for integrin α9β1.14
202366272010Characterization of SVEP1, KIAA, and SRPX2 in an in vitro cell culture model of endotoxemia.11
203612092010Fine mapping of the 9q31 Hirschsprung's disease locus.10
251885482015Identification of a nonsynonymous polymorphism in the SVEP1 gene associated with altered clinical outcomes in septic shock.10
215567802012Evaluation of various endothelial biomarkers in ankylosing spondylitis.2
275296782016Leveraging electronic health records to study pleiotropic effects on bipolar disorder and medical comorbidities.2
278926062017SVEP1 plays a crucial role in epidermal differentiation.2

Citation

Dessen P

SVEP1 (sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74389/svep1