Identity
HGNC
LOCATION
6q21
LOCUSID
ALIAS
CARICK,HBVES,LGMD2X,LGMDR25,POP1,POPDC1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 11149
MIM: 604577
HGNC: 1152
Ensembl: ENSG00000112276
Variants:
dbSNP: 11149
ClinVar: 11149
TCGA: ENSG00000112276
COSMIC: BVES
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000112276 | ENST00000314641 | Q8NE79 |
| ENSG00000112276 | ENST00000336775 | Q8NE79 |
| ENSG00000112276 | ENST00000446408 | Q8NE79 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Tight junction | KEGG | ko04530 |
| Tight junction | KEGG | hsa04530 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36155908 | 2023 | A novel biallelic variant in the Popeye domain-containing protein 1 (POPDC1) underlies limb girdle muscle dystrophy type 25. | 7 |
| 36624536 | 2023 | Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking. | 2 |
| 36155908 | 2023 | A novel biallelic variant in the Popeye domain-containing protein 1 (POPDC1) underlies limb girdle muscle dystrophy type 25. | 7 |
| 36624536 | 2023 | Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking. | 2 |
| 35660068 | 2022 | Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1). | 8 |
| 35660068 | 2022 | Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1). | 8 |
| 34069715 | 2021 | The Transition from Gastric Intestinal Metaplasia to Gastric Cancer Involves POPDC1 and POPDC3 Downregulation. | 5 |
| 34069715 | 2021 | The Transition from Gastric Intestinal Metaplasia to Gastric Cancer Involves POPDC1 and POPDC3 Downregulation. | 5 |
| 32843646 | 2020 | BVES downregulation in non-syndromic tetralogy of fallot is associated with ventricular outflow tract stenosis. | 4 |
| 33261556 | 2020 | An interaction of heart disease-associated proteins POPDC1/2 with XIRP1 in transverse tubules and intercalated discs. | 6 |
| 32843646 | 2020 | BVES downregulation in non-syndromic tetralogy of fallot is associated with ventricular outflow tract stenosis. | 4 |
| 33261556 | 2020 | An interaction of heart disease-associated proteins POPDC1/2 with XIRP1 in transverse tubules and intercalated discs. | 6 |
| 31386585 | 2019 | The Functional Polymorphism R129W in the BVES Gene Is Associated with Sporadic Tetralogy of Fallot in the Han Chinese Population. | 3 |
| 31386585 | 2019 | The Functional Polymorphism R129W in the BVES Gene Is Associated with Sporadic Tetralogy of Fallot in the Han Chinese Population. | 3 |
| 29907869 | 2018 | BVES is required for maintenance of colonic epithelial integrity in experimental colitis by modifying intestinal permeability. | 11 |
Citation
Dessen P
BVES (blood vessel epicardial substance)
Atlas Genet Cytogenet Oncol Haematol. 2008-07-01
Online version: http://atlasgeneticsoncology.org/gene/50223/bves
