2. Gene
  3. BVES - blood vessel epicardial substance Gene

BVES - blood vessel epicardial substance Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：血管心外膜物质

种属: Homo sapiens

同用名: POP1; HBVES; CARICK; LGMD2X; POPDC1; LGMDR25

基因 ID: 11149 | 基因类型: protein coding

关于 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.

功能概要

该基因编码含有三个假定跨膜结构域的 POP 蛋白家族成员。该基因在心肌和骨骼肌中表达，可能在这些组织的发育中发挥重要作用。小鼠直系同源物可能参与成年骨骼肌的再生，并可能在冠状血管生成中充当细胞粘附分子。已发现该基因的三个转录变体编码相同的蛋白质。[RefSeq 提供，2010 年 12 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
26642364 GOA
enables structural molecule activity IDA
IDA: 通过直接分析推断
16188940 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in epithelial cell-cell adhesion IDA
IDA: 通过直接分析推断
16188940 GOA
involved in heart development IMP
IMP: 通过突变表型推断
26642364 GOA
involved in skeletal muscle tissue development IMP
IMP: 通过突变表型推断
26642364 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in bicellular tight junction IDA
IDA: 通过直接分析推断
16188940 GOA
located in lateral plasma membrane IDA
IDA: 通过直接分析推断
16188940 GOA
located in membrane IDA
IDA: 通过直接分析推断
16188940 GOA
located in sarcolemma IDA
IDA: 通过直接分析推断
26642364 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

BVES 蛋白结构

Popeye

Popeye: Popeye protein conserved region (123 - 275)

  • 0
  • 100
  • 200
  • 300
  • 360 a.a.
蛋白主名 其他名称

blood vessel epicardial substance

popeye domain-containing protein 1

重组 BVES 蛋白

目录号 产品名 蛋白编号 纯度
HY-P75597 BVES Protein, Human (GST) Q8NE79 (M1-N36) ≥95%

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS01687 BVES Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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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