2. Gene
  3. MYOZ2 - myozenin 2 Gene

MYOZ2 - myozenin 2 Gene

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

中文名称：肌增生素 2

种属: Homo sapiens

同用名: CS-1; CMH16; C4orf5; FATZ-2

基因 ID: 51778 | 基因类型: protein coding

关于 MYOZ2

Cytogenetic location: 4q26 Genomic coordinates (GRCh38): 4:119,135,832-119,187,789 (from NCBI)

This gene has 1 transcript (splice variant), 281 orthologues, 2 paralogues and is associated with 2 phenotypes. Restricted expression toward heart (RPKM 236.3).

功能概要

由该基因编码的蛋白质属于与钙调神经磷酸酶结合的肌节蛋白家族，钙调神经磷酸酶是一种磷酸酶，参与多种细胞类型中的钙依赖性信号转导。这些家族成员将钙调神经磷酸酶与心肌和骨骼肌细胞肌节 z 线上的 α-辅肌动蛋白相连，因此它们对钙调神经磷酸酶信号传导很重要。该基因的突变会导致 16 型家族性肥厚型心肌病，这是一种遗传性心脏病。[RefSeq 提供，2011 年 8 月]

The protein encoded by this gene belongs to a family of sarcomeric proteins that bind to Calcineurin, a Phosphatase involved in calcium-dependent signal transduction in diverse cell types. These family members tether Calcineurin to alpha-actinin at the z-line of the sarcomere of cardiac and skeletal muscle cells, and thus they are important for Calcineurin signaling. Mutations in this gene cause cardiomyopathy familial hypertrophic type 16, a hereditary heart disorder. [provided by RefSeq, Aug 2011]

MYOZ2 基因产物(1)

mRNA Protein Name
NM_016599.5 NP_057683.1 myozenin-2
基因本体论
  • 分子功能
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
10427098 GOA
enables telethonin binding IPI
IPI: 通过物理相互作用推断
15582318 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

MYOZ2 蛋白结构

Calsarcin

Calsarcin: Calcineurin-binding protein (Calsarcin) (1 - 264)

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

myozenin-2

FATZ-related protein 2

MYOZ2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
MYOZ2 Q9NPC6 DRICH1 Homo sapiens Q6PGQ1
Y2H Array
25416956
种属内
MYOZ2 Q9NPC6 WWOX Homo sapiens Q9NZC7-5
Y2H Prey Pooling
32296183
种属内
MYOZ2 Q9NPC6 WWOX Homo sapiens Q9NZC7-5
Validated Y2H
32296183
种属内
MYOZ2 Q9NPC6 WWOX Homo sapiens Q9NZC7-5
Y2H Array
32296183
种属内
MYOZ2 Q9NPC6 q9y649_human Homo sapiens Q9Y649
Y2H Array
32814053
种属内
MYOZ2 Q9NPC6 q9y649_human Homo sapiens Q9Y649
Y2H Pooling
32814053
种属内
MYOZ2 Q9NPC6 q9y649_human Homo sapiens Q9Y649
Validated Y2H
32814053
种属内
MYOZ2 Q9NPC6 FGFR3 Homo sapiens P22607
Y2H Pooling
32814053
种属内
MYOZ2 Q9NPC6 FGFR3 Homo sapiens P22607
Validated Y2H
32814053
种属内
MYOZ2 Q9NPC6 FGFR3 Homo sapiens P22607
Y2H Array
32814053
种属内
MYOZ2 Q9NPC6 GSN Homo sapiens P06396
Y2H Pooling
32814053
种属内
MYOZ2 Q9NPC6 GSN Homo sapiens P06396
Validated Y2H
32814053
种属内
MYOZ2 Q9NPC6 GSN Homo sapiens P06396
Y2H Array
32814053
种属内
MYOZ2 Q9NPC6 ACTN4 Homo sapiens O43707
Validated Y2H
25910212
种属内
MYOZ2 Q9NPC6 ACTN4 Homo sapiens O43707
Y2H Array
25910212
种属内
MYOZ2 Q9NPC6 ACTN4 Homo sapiens O43707
Validated Y2H
25416956
种属内
MYOZ2 Q9NPC6 ACTN4 Homo sapiens O43707
Y2H Prey Pooling
32296183
种属内
MYOZ2 Q9NPC6 ACTN4 Homo sapiens O43707
Y2H Bait-Prey Pool
25910212
种属内
MYOZ2 Q9NPC6 ACTN4 Homo sapiens O43707
Y2H Array
32296183
种属内
MYOZ2 Q9NPC6 ACTN4 Homo sapiens O43707
Y2H Pooling
19447967
种属内
MYOZ2 Q9NPC6 ACTN1 Homo sapiens P12814
Y2H Prey Pooling
32296183
种属内
MYOZ2 Q9NPC6 ACTN1 Homo sapiens P12814
Y2H Array
25416956
种属内
MYOZ2 Q9NPC6 ACTN1 Homo sapiens P12814
Y2H Bait-Prey Pool
25910212
种属内
MYOZ2 Q9NPC6 ACTN1 Homo sapiens P12814
Y2H Array
32296183
种属内
MYOZ2 Q9NPC6 ACTN1 Homo sapiens P12814
Validated Y2H
25910212
种属内
MYOZ2 Q9NPC6 ACTN1 Homo sapiens P12814
Y2H Array
25910212
种属内
MYOZ2 Q9NPC6 RBPMS Homo sapiens Q93062
Y2H Prey Pooling
25416956
种属内
MYOZ2 Q9NPC6 RBPMS Homo sapiens Q93062
Validated Y2H
25416956
种属内
MYOZ2 Q9NPC6 RBPMS Homo sapiens Q93062
Y2H Array
25416956
种属内
MYOZ2 Q9NPC6 ACTN2 Homo sapiens P35609
Y2H Array
31515488
种属内
MYOZ2 Q9NPC6 ACTN2 Homo sapiens P35609
Validated Y2H
25416956
种属内
MYOZ2 Q9NPC6 ACTN2 Homo sapiens P35609
Validated Y2H
25910212
种属内
MYOZ2 Q9NPC6 ACTN2 Homo sapiens P35609
Y2H Bait-Prey Pool
25910212
种属内
MYOZ2 Q9NPC6 ACTN2 Homo sapiens P35609
Y2H Array
25910212
种属内
MYOZ2 Q9NPC6 ACTN2 Homo sapiens P35609
Y2H Array
25416956
种属内
MYOZ2 Q9NPC6 TCAP Homo sapiens O15273
Y2H
15582318
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 MYOZ2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70919 MYOZ2 Protein, Human (His) Q9NPC6 (M1-L264) ≥95%

关联疾病

疾病名称 别名
Cardiomyopathy, Familial Hypertrophic, 16

Hypertrophic Cardiomyopathy 16

CMH16

Cardiomyopathy, Hypertrophic, 16

Cardiomyopathy Familial Hypertrophic 16

Cardiomyopathy, Familial Hypertrophic 16

Cardiomyopathy, Hypertrophic, Familial, Type 16
Pleomorphic Adenoma

Mixed Tumor Of The Salivary Gland

Adenoma Pleomorphic

Adenoma, Pleomorphic

Mixed Salivary Gland Tumor

Mixed Tumor, Not Otherwise Specified
Muscle Hypertrophy

MSLHP

Hypertrophy

Hypertrophy, Muscle
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
Cantu Syndrome

Hypertrichotic Osteochondrodysplasia

Hypertrichotic Osteochondrodysplasia Cantu Type

Cantú Syndrome

Craniofaciocardioskeletal Syndrome

Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome

Congenital Hypertrichosis-Acromegaloid Facial Features Spectrum

Congenital Hypertrichosis-Coarse Facial Features Spectrum

HTOCD

Osteochondrodysplasia, Hypertrichotic
Myopathy, Myofibrillar, 4

Myofibrillar Myopathy 4

MFM4

Zaspopathy

Myopathy, Myofibrillar, Zasp-Related
Myopathy, Spheroid Body

Spheroid Body Myopathy

Autosomal Dominant Spheroid Body Myopathy

SBM
Rhabdomyosarcoma
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
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
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
Myofibrillar Myopathy

Desmin Related Myopathy

Myotilinopathy

Myopathy, Myofibrillar

Alpha Beta Crystallinopathy

Desmin Storage Myopathy

Desminopathy

Filaminopathy

Protein Surplus Myopathy

Zaspopathy

Myofibrillar Myopathies

Myopathy, Myofibrillar, Desmin-Related

Myopathy, Desmin Storage

Mfm - [Myofibrillar Myopathy]
Myopathy

Muscular Diseases

Myopathies
Restrictive Cardiomyopathy

Familial Restrictive Cardiomyopathy

Cardiomyopathy, Restrictive

Cardiomyopathy, Constrictive

Primary Restrictive Cardiomyopathy

Rcm

Cardiomyopathy Restrictive
Left Ventricular Noncompaction

Noncompaction Cardiomyopathy

Left Ventricular Hypertrabeculation

Lvnc

Spongy Myocardium

Isolated Noncompaction Of The Ventricular Myocardium

Left Ventricular Myocardial Noncompaction Cardiomyopathy

Fetal Myocardium

Honeycomb Myocardium

Hypertrabeculation Syndrome

Left Ventricular Non-Compaction

Lvht

Non-Compaction Of The Left Ventricular Myocardium

Ventricular Noncompaction, Left

Non-Compaction Cardiomyopathy
Congenital Fiber-Type Disproportion

Congenital Fiber Type Disproportion

Cftdm

Congenital Myopathy With Fiber Type Disproportion

Cftd

Congenital Fiber-Type Disproportion Myopathy

Fiber-Type Disproportion Myopathy, Congenital

Myopathy, Congenital With Fiber-Type Disproportion
Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy

Familial Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy 1

CMH1

Hypertrophic Cardiomyopathy 19

CMH

Ventricular Hypertrophy, Hereditary

Ash

Hypertrophic Subaortic Stenosis, Idiopathic

Cardiomyopathy, Familial Hypertrophic

Cardiomyopathy, Hypertrophic, 1, Digenic

Cardiomyopathy, Familial Hypertrophic 1

Hcm

Hereditary Ventricular Hypertrophy

Idiopathic Hypertrophic Subaortic Stenosis

Hypertrophic Cardiomyopathy

Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, 1

Familial Asymmetric Septal Hypertrophy

Heritable Hypertrophic Cardiomyopathy

Fhc

Cardiomyopathy, Hypertrophic, Familial, 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-RS08966 MYOZ2 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 MYOZ2 VGNC VGNC:31841
Rattus norvegicus MYOZ2 RGD RGD:1307669
Canis familiaris MYOZ2 VGNC VGNC:43584
Macaca mulatta MYOZ2 VGNC VGNC:74950
Felis catus MYOZ2 VGNC VGNC:63694
Mus musculus MYOZ2 MGD MGI:1913063
Others MYOZ2 NCBI
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