BVES - blood vessel epicardial substance Gene

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

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 11149

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
Molecular Function GO Annotation Evidence 参考文献 由来
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 参考文献 由来
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 参考文献 由来
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

Popeye: Popeye protein conserved region (123 - 275)

  • 0
  • 100
  • 200
  • 300
  • 360 a.a.
Protein Preferred Names Protein Names

blood vessel epicardial substance

  • popeye domain-containing protein 1

Recombinant BVES Proteins

製品番号 製品名 アクセッション番号 純度
HY-P75597 BVES Protein, Human (GST) Q8NE79 (M1-N36) ≥ 90%, as determined by reducing SDS-PAGE.

関連疾患

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

Orthologs Information

生物種 Symbol 由来 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