BVES (blood vessel epicardial substance)

2008-07-01  

Identity

HGNC
LOCATION
6q21
LOCUSID
ALIAS
CARICK,HBVES,LGMD2X,LGMDR25,POP1,POPDC1
FUSION GENES

Other Information

Locus ID:

NCBI: 11149
MIM: 604577
HGNC: 1152
Ensembl: ENSG00000112276

Variants:

dbSNP: 11149
ClinVar: 11149
TCGA: ENSG00000112276
COSMIC: BVES

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000112276ENST00000314641Q8NE79
ENSG00000112276ENST00000336775Q8NE79
ENSG00000112276ENST00000446408Q8NE79

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Tight junctionKEGGko04530
Tight junctionKEGGhsa04530

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
183492822008DNA methylation in tumor and matched normal tissues from non-small cell lung cancer patients.71
223541682012Popeye domain containing proteins are essential for stress-mediated modulation of cardiac pacemaking in mice.51
219119382011BVES regulates EMT in human corneal and colon cancer cells and is silenced via promoter methylation in human colorectal carcinoma.32
206278722010Frequent silencing of popeye domain-containing genes, BVES and POPDC3, is associated with promoter hypermethylation in gastric cancer.20
205466122010The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.19
266423642016POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking.17
212837982011Bves modulates tight junction associated signaling.16
283895702017BVES regulates c-Myc stability via PP2A and suppresses colitis-induced tumourigenesis.15
210692642011Popeye domain-containing 1 is down-regulated in failing human hearts.14
244422362014BVES inhibition triggers epithelial-mesenchymal transition in human hepatocellular carcinoma.12

Citation

Dessen P

BVES (blood vessel epicardial substance)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50223/bves