2. Gene
  3. VCL - vinculin Gene

VCL - vinculin Gene

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

中文名称：纽蛋白

种属: Homo sapiens

同用名: MV; MVCL; CMD1W; CMH15; HEL114

基因 ID: 7414 | 基因类型: protein coding

关于 VCL

Cytogenetic location: 10q22.2 Genomic coordinates (GRCh38): 10:73,998,116-74,121,363 (from NCBI)

This gene has 7 transcripts (splice variants), 284 orthologues, 4 paralogues and is associated with 4 phenotypes. Ubiquitous expression in endometrium (RPKM 87.7), prostate (RPKM 70.2) and 25 other tissues.

功能概要

Vinculin 是一种与细胞-细胞和细胞-基质连接相关的细胞骨架蛋白，它被认为是参与将 F-肌动蛋白锚定到细胞膜的几种相互作用蛋白之一。 VCL 缺陷是扩张型 1W 型心肌病的原因。扩张型心肌病是一种以心室扩张和收缩功能受损为特征的疾病，可导致充血性心力衰竭和心律失常。已发现该基因的多个选择性剪接转录变体，但尚未确定某些变体的生物学有效性。[RefSeq 提供，2008 年 7 月]

Vinculin is a cytoskeletal protein associated with cell-cell and cell-matrix junctions, where it is thought to function as one of several interacting proteins involved in anchoring F-actin to the membrane. Defects in VCL are the cause of cardiomyopathy dilated type 1W. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]

VCL 基因产物(2)

mRNA Protein Name
NM_003373.4 NP_003364.1 vinculin isoform VCL
NM_014000.3 NP_054706.1 vinculin isoform meta-VCL

VCL 蛋白结构

Vinculin

Vinculin: Vinculin family (3 - 483)

Vinculin

Vinculin: Vinculin family (487 - 915)

Vinculin

Vinculin: Vinculin family (931 - 1134)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1134 a.a.
蛋白主名 其他名称

vinculin

epididymis luminal protein 114

重组 VCL 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70994 Vinculin Protein, Human AAH39174.1 (P2-Q1066) ≥95%
HY-P71693 Vinculin Protein, Human (GST) P18206 (2P-235E) ≥95%
HY-P73550 Vinculin Protein, Human (HEK293, His) P18206-2 (M1-Q1066) ≥95%

关联疾病

疾病名称 别名
Cardiomyopathy, Familial Hypertrophic, 15

Hypertrophic Cardiomyopathy 15

CMH15

Cardiomyopathy, Hypertrophic, 15

Cardiomyopathy Familial Hypertrophic 15

Cardiomyopathy, Familial Hypertrophic 15

Cardiomyopathy, Hypertrophic, Familial, Type 15
Cardiomyopathy, Dilated, 1w

CMD1W

Dilated Cardiomyopathy 1w

Cardiomyopathy, Dilated 1w

Cardiomyopathy, Dilated, Type 1w
Familial Isolated Dilated Cardiomyopathy

Familial Or Idiopathic Dilated Cardiomyopathy
Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy
Congestive Heart Failure

Congestive Heart Disease

Heart Failure

Cardiac Failure Congestive

Chf

Weak Heart

Heart Failure Congestive

Ccf - [Congestive Cardiac Failure]

Chf - [Congestive Heart Failure]

Congestive Cardiac Diseases

Congested Heart Failure

Congestive Cardiac Failure

Cardiac Anasarca

Cardiac Oedema

Cardiac Stasis

Cardiovascular Oedema

Cardiac Hydrops

Congestive Failure

Heart Congestion

Heart Fluid

Oedematous Heart
Quebec Platelet Disorder

Factor V Quebec

QPD

Bdplt5

Bleeding Disorder, Platelet-Type, 5

Platelet-Type Bleeding Disorder 5

Bleeding Disorder Platelet-Type 5

Platelet Disorder, Quebec
Muscular Dystrophy, Becker Type

Becker Muscular Dystrophy

BMD

Benign Pseudohypertrophic Muscular Dystrophy

Benign Congenital Myopathy

Becker Dystrophinopathy

Becker'S Muscular Dystrophy

Muscular Dystrophy, Pseudohypertrophic Progressive, Becker Type

Muscular Dystrophy Pseudohypertrophic Progressive, Becker Type

Muscular Dystrophy Becker

Dystrophy, Muscular, Becker Type

Dystrophinopathy

Becker Dystrophy

Becker Type Dystrophy

Bmd - [Becker Muscular Dystrophy]
Shigellosis

Dysentery, Bacillary

Bacillary Dysentery

Shigella Boydii Infectious Disease

Shigella Flexneri Infectious Disease

Shigella Gastroenteritis

Shigella Sonnei Infectious Disease

Shigella Infections
Darier-White Disease

Keratosis Follicularis

Darier Disease

Darier'S Disease

DAR

DD

Darier White Disease

Darier Disease Acral Hemorrhagic Type

Darier Disease Segmental

Darier Disease, Acral Hemorrhagic Type

Darier Disease, Segmental
Xanthomatosis

Xanthomatosis, Susceptibility To

Xanthelasmatosis
Neural Tube Defects

Spina Bifida

Neural Tube Defect

NTD

Neural Tube Defects, Susceptibility To

Spinal Dysraphism

Spina Bifida, Susceptibility To

Rachischisis

Cleft Spine

Open Spine

Hydrocele Spinalis

Neural Tube Defect Nos

Sb - [Spina Bifida]

Spinal Hernia Nos

Spinal Fissure Nos
Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Focal Glomerulosclerosis

Fsgs

Segmental Glomerulosclerosis

Glomerulosclerosis, Focal Segmental

Fgs

Focal Glomerular Sclerosis

Familial Idiopathic Nephrotic Syndrome

Focal Sclerosis With Hyalinosis

Glomerulosclerosis, Focal

Glomerulosclerosis Focal

Glomerulosclerosis, Segmental, Focal

Focal Segmental Glomerulosclerosis, Not Otherwise Specified
Melanoma

Malignant Melanoma

Cutaneous Melanoma

Naevocarcinoma

Malignant Melanomas
Developmental And Epileptic Encephalopathy 38

DEE38

Epileptic Encephalopathy, Early Infantile, 38

Eiee38

Developmental And Epileptic Encephalopathy, 38

Glycosylphosphatidylinositol Biosynthesis Defect 23

Gpibd23

Early Infantile Epileptic Encephalopathy 38
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
Muscular Dystrophy, Duchenne Type

Duchenne Muscular Dystrophy

DMD

Muscular Dystrophy, Duchenne

Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type

Severe Dystrophinopathy, Duchenne Type

Muscular Dystrophy Duchenne

Dystrophy, Muscular, Duchenne Type

Benign Duchenne Muscular Dystrophy

Duchenne Motor Neuron Disease

Duchenne Type Dystrophy

Duchenne-Griesinger Disease
Colon Adenocarcinoma

Adenocarcinoma Of Colon

Adenocarcinoma Of The Colon

Colonic Adenocarcinoma
Parameningeal Embryonal Rhabdomyosarcoma
Neuromuscular Disease

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder
Junctional Epidermolysis Bullosa

Epidermolysis Bullosa, Junctional

Jeb

Epidermolysis Bullosa Atrophicans

Congenital Junctional Epidermolysis Bullosa

Epidermolysis Bullosa Junctional

Junctional Eb - [Epidermolysis Bullosa]

Jeb - [Junctional Epidermolysis Bullosa]

Lucidolytic Epidermolysis Bullosa
Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis
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-RS15620 VCL Human Pre-designed siRNA Set A / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta VCL VGNC VGNC:106118
Felis catus VCL VGNC VGNC:66932
Canis familiaris VCL VGNC VGNC:48242
Bos taurus VCL VGNC VGNC:36779
Rattus norvegicus VCL RGD RGD:1311217
Mus musculus VCL MGD MGI:98927
Others VCL NCBI
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