BVES - blood vessel epicardial substance Gene

Homo sapiens

Also known as POP1; HBVES; CARICK; LGMD2X; POPDC1; LGMDR25

Gene ID: 11149 | Gene type: protein coding

About BVES

Cytogenetic location: 6q21 Genomic coordinates (GRCh38): 6:105,096,822-105,137,157 (from NCBI)

This gene has 3 transcripts (splice variants), 207 orthologues, 2 paralogues and is associated with 2 phenotypes. Broad expression in heart (RPKM 3.6), testis (RPKM 1.9) and 16 other tissues.

Summary

This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in development of these tissues. The mouse ortholog may be involved in the regeneration of adult skeletal muscle and may act as a cell adhesion molecule in coronary vasculogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]

BVES Products(3)

mRNA	Protein	Name
NM_001199563.2	NP_001186492.1	blood vessel epicardial substance
NM_007073.4	NP_009004.2	blood vessel epicardial substance
NM_147147.4	NP_671488.1	blood vessel epicardial substance

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	26642364	GOA
enables structural molecule activity	IDA IDA: Inferred from direct assay	16188940	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in epithelial cell-cell adhesion	IDA IDA: Inferred from direct assay	16188940	GOA
involved in heart development	IMP IMP: Inferred from mutant phenotype	26642364	GOA
involved in skeletal muscle tissue development	IMP IMP: Inferred from mutant phenotype	26642364	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in bicellular tight junction	IDA IDA: Inferred from direct assay	16188940	GOA
located in lateral plasma membrane	IDA IDA: Inferred from direct assay	16188940	GOA
located in membrane	IDA IDA: Inferred from direct assay	16188940	GOA
located in sarcolemma	IDA IDA: Inferred from direct assay	26642364	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BVES Protein Structure

Popeye

0
100
200
300
360 a.a.

Protein Preferred Names

Protein Names

blood vessel epicardial substance

popeye domain-containing protein 1

Recombinant BVES Proteins

Cat. No.	Product Name	Accession	Purity
HY-P75597	BVES Protein, Human (GST)	Q8NE79 (M1-N36)	≥95%

Related Diseases

Diseases

Alias

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25

Muscular Dystrophy, Limb-Girdle, Type 2x	Lgmd2x
LGMDR25	Cardiac Arrhythmia With Increased Serum Creatine Kinase
Carick	Limb-Girdle Muscular Dystrophy 2x
Bves-Related Limb-Girdle Muscular Dystrophy	Autosomal Recessive Limb-Girdle Muscular Dystrophy-Cardiac Arrhythmia Syndrome
Bves-Related Lgmd	Lgmd Type 2x

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x

Lgmd2x

Muscular Dystrophy, Limb-Girdle, Type 2x

Limb-Girdle Muscular Dystrophy

Lgmd	Limb Girdle Muscular Dystrophy
Muscular Dystrophies, Limb-Girdle	Erb'S Muscular Dystrophy
Leyden-Mbius Muscular Dystrophy	Limb-Girdle Syndrome
Myopathic Limb-Girdle Syndrome	Limb Girdle
Muscular Dystrophy Limb-Girdle	Dystrophy, Muscular, Limb-Girdle
Lgmd - [Limb-Girdle Muscular Dystrophy]	Limb Girdle Muscle Dystrophy
Limb-Girdle Myopathy

Pseudo-Torch Syndrome 1

Pseudo-Torch Syndrome	Band-Like Calcification With Simplified Gyration And Polymicrogyria
Blcpmg	PTORCH1
Baraitser-Brett-Piesowicz Syndrome	Baraitser-Reardon Syndrome
Bilateral Band-Like Calcification With Polymicrogyria	Blc-Pmg
Microcephaly-Intracranial Calcification-Intellectual Disability Syndrome	Congenital Intrauterine Infection-Like Syndrome
Baraitser Brett Piesowicz Syndrome	Microcephaly - Intracranial Calcification - Intellectual Disability

Tetralogy Of Fallot

TOF	Fallot Tetralogy
Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle	Tetrad Of Fallot
Fallot Tetrad	Fallot Disease
Fallot Complex	Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy
Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle	Interventricular Septal Defect, In Tetralogy Of Fallot
Ventricular Septal Defect With Obstructed Right Ventricular Outflow	Tof - [Tetralogy Of Fallot]
Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]	Pulmonary Atresia, Ventricular Septal Defect And Mapcas
Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

Muscular Dystrophy

Muscular Dystrophies	Congenital Md
Congenital Muscular Dystrophy	Cmd
Mdc	Dystrophy, Muscular
Gower'S Muscular Dystrophy	Progressive Musclular Dystrophy
Pseudohypertrophic Atrophy	Pseudohypertrophic Muscle Paralysis
Pseudohypertrophic Muscular Atrophy	Pseudohypertrophic Muscular Dystrophy
Pseudohypertrophic Paralysis	Pseudomuscular Hypertrophy

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w

Lgmd2w

Muscular Dystrophy, Limb-Girdle, Type 2w

Myopathy, Congenital, Bailey-Bloch

Native American Myopathy	Nam
MYPBB	Myopathy, Congenital, Baily-Bloch
Anti-Hmg-Coa Myopathy	Anti-Srp Myopathy
Autoimmune Necrotizing Myositis	Imnm
Immune Myopathy With Myocyte Necrosis	Immune-Mediated Necrotizing Myopathy
Myopathy, Congenital, With Myopathic Facies, Scoliosis, And Malignant Hyperthermia	Necrotizing Autoimmune Myopathy
Congenital Myopathy-Cleft Palate-Malignant Hyperthermia Syndrome	Congenital Myopathy With Cleft Palate And Malignant Hyperthermia

Atrioventricular Block

Av Block

Bethlem Myopathy 1

Bethlem Myopathy	Myopathy, Benign Congenital, With Contractures
Muscular Dystrophy, Benign Congenital	BTHLM1
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5	Lgmdd5
Benign Congenital Muscular Dystrophy	Benign Autosomal Dominant Myopathy
Myopathy, Bethlem	Myopathy, Bethlem, Type 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01687	BVES Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	BVES	VGNC	VGNC:26610
Rattus norvegicus	BVES	RGD	RGD:1561100
Macaca mulatta	BVES	VGNC	VGNC:70294
Canis familiaris	BVES	VGNC	VGNC:38569
Felis catus	BVES	VGNC	VGNC:60214
Mus musculus	BVES	MGD	MGI:1346013
Others	BVES	NCBI

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