Entity Details

Primary name BVES
Entity type gene
Source Source Link

Details

PrimaryID11149
RefseqGeneNG_046732
SymbolBVES
Nameblood vessel epicardial substance
Chromosome6
Location6q21
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-01-07
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPOPD1_HUMAN

GO terms

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GOName
GO:0001921 positive regulation of receptor recycling
GO:0002027 regulation of heart rate
GO:0002244 hematopoietic progenitor cell differentiation
GO:0002931 response to ischemia
GO:0005198 structural molecule activity
GO:0005886 plasma membrane
GO:0005901 caveola
GO:0005923 bicellular tight junction
GO:0007507 heart development
GO:0007517 muscle organ development
GO:0007519 skeletal muscle tissue development
GO:0008360 regulation of cell shape
GO:0016021 integral component of membrane
GO:0016192 vesicle-mediated transport
GO:0016328 lateral plasma membrane
GO:0030054 cell junction
GO:0030552 cAMP binding
GO:0031253 cell projection membrane
GO:0034446 substrate adhesion-dependent cell spreading
GO:0040017 positive regulation of locomotion
GO:0042383 sarcolemma
GO:0042391 regulation of membrane potential
GO:0043087 regulation of GTPase activity
GO:0048278 vesicle docking
GO:0051146 striated muscle cell differentiation
GO:0060931 sinoatrial node cell development
GO:0060973 cell migration involved in heart development
GO:0090136 epithelial cell-cell adhesion
GO:2001135 regulation of endocytic recycling

Diseases

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Disease IDSourceNameDescription
616812 OMIMMuscular dystrophy, limb-girdle, autosomal recessive 25 (LGMDR25)An autosomal recessive muscular disorder characterized by slowly progressive onset of proximal lower limb weakness in adulthood, syncopal episodes, and markedly increased serum creatine kinase, which can increase further after strenuous exercise. The disease is caused by variants affecting the gene represented in this entry.

Interactions

6 interactions

InteractorPartnerSourcesPublicationsLink
BVESHSPB1BioGRID, IntAct25277244 details
BVESUBAC1BioGRID, IntAct26186194 28514442 details
BVESRNF123BioGRID, IntAct26186194 28514442 details
BVESDUSP5BioGRID28675297 details
BVESHNRNPLBioGRID28611215 details
BVESMKRN2BioGRID32460013 details