2. Gene
  3. MYBPC2 - myosin binding protein C2 Gene

MYBPC2 - myosin binding protein C2 Gene

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

中文名称：肌球蛋白结合蛋白 C2

种属: Homo sapiens

同用名: MYBPC; MYBPCF; fsMyBP-C

基因 ID: 4606 | 基因类型: protein coding

关于 MYBPC2

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:50,432,892-50,466,321 (from NCBI)

This gene has 2 transcripts (splice variants), 260 orthologues and 11 paralogues. Biased expression in prostate (RPKM 9.2), esophagus (RPKM 2.3) and 2 other tissues.

功能概要

该基因编码肌球蛋白结合蛋白 C 家族的成员。该家族包括快型、慢型和心脏型亚型，每种亚型都是在横纹肌 A 带的横桥承载区 (C 区) 中发现的肌球蛋白相关蛋白。由该基因座编码的蛋白质被称为快速型亚型。编码慢型和心脏型亚型的相关但不同的基因突变分别与远端关节弯曲、1 型和肥厚性心肌病相关。[RefSeq 提供，2012 年 7 月]

This gene encodes a member of the myosin-binding protein C family. This family includes the fast-, slow- and cardiac-type isoforms, each of which is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The protein encoded by this locus is referred to as the fast-type isoform. Mutations in the related but distinct genes encoding the slow-type and cardiac-type isoforms have been associated with distal arthrogryposis, type 1 and hypertrophic cardiomyopathy, respectively. [provided by RefSeq, Jul 2012]

MYBPC2 基因产物(1)

mRNA Protein Name
NM_004533.4 NP_004524.3 myosin-binding protein C, fast-type
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
23414517 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

MYBPC2 蛋白结构

I-set

I-set: Immunoglobulin I-set domain (53 - 147)

I-set

I-set: Immunoglobulin I-set domain (258 - 333)

I-set

I-set: Immunoglobulin I-set domain (348 - 423)

I-set

I-set: Immunoglobulin I-set domain (441 - 511)

I-set

I-set: Immunoglobulin I-set domain (552 - 635)

fn3

fn3: Fibronectin type III domain (640 - 725)

fn3

fn3: Fibronectin type III domain (738 - 822)

I-set

I-set: Immunoglobulin I-set domain (852 - 929)

fn3

fn3: Fibronectin type III domain (935 - 1013)

I-set

I-set: Immunoglobulin I-set domain (1048 - 1137)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1141 a.a.
蛋白主名 其他名称

myosin-binding protein C, fast-type

fast MyBP-C

MYBPC2 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
MYBPC2 Q14324 MYBPC1 Homo sapiens Q00872
Y2H Fragment Pooling
23414517
种属内
MYBPC2 Q14324 TTN Homo sapiens Q8WZ42
Y2H Fragment Pooling
23414517
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Lethal Congenital Contracture Syndrome 4

LCCS4

Contracture Syndrome, Lethal, Congenital, Type 4
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
Nemaline Myopathy 9

NEM9

Myopathy, Nemaline, Type 9
Distal Arthrogryposis

Arthrogryposis Multiplex Congenita

Arthrogryposis

Congenital Multiple Arthrogryposis

Congenital Arthromyodysplasia

Fibrous Ankylosis Of Multiple Joints

Guerin-Stern Syndrome

Guérin-Stern Syndrome

Myodystrophia Fetalis Deformans

Otto Syndrome

Rocher-Sheldon Syndrome

Rossi Syndrome

Amc

Multiple Congenital Arthrogryposis

Arthrogryposis Syndrome

Arthrogryposis, Distal

Distal Arthrogryposis Syndrome

Freeman-Sheldon Syndrome

Arthrogryposis, Distal, Type 2b

Congenital Multiplex Arthrogryposis

Amyoplasia Congenita

Congenital Amyoplasia

Amc - [Arthrogryposis Multiplex Congenita]
Arthrogryposis, Distal, Type 2a

Freeman-Sheldon Syndrome

Craniocarpotarsal Dystrophy

Craniocarpotarsal Dysplasia

DA2A

Whistling Face-Windmill Vane Hand Syndrome

Fss

Distal Arthrogryposis Type 2a

Whistling Face Syndrome

Freeman-Burian Syndrome

Arthrogryposis Distal Type 2a

Distal Arthrogryposis, Type 2a

Fbs

Arthrogryposis, Distal, 2a
Arthrogryposis, Distal, Type 5

Oculomelic Amyoplasia

Distal Arthrogryposis Type 5

Distal Arthrogryposis Type Iib

DA5

Arthrogryposis With Oculomotor Limitation And Electroretinal Abnormalities

Daiib

Distal Arthrogryposis Type 2b

Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome

Distal Arthrogryposis With Ophthalmoplegia

Arthrogryposis- Oculomotor Limitation-Electroretinal Anomalies Syndrome

Arthrogryposis, Distal, Type Iib

Da2b

Freeman-Sheldon Syndrome Variant

Sheldon-Hall Syndrome

Arthogryposis With Oculomotor Limitation And Electroretinal Abnormalities

Arthrogryposis Ophthalmoplegia Retinopathy

Arthrogryposis, Distal, 5

Arthrogryposis, Distal, Type 2b
Lethal Congenital Contracture Syndrome 2

LCCS2

Lethal Congenital Contractural Syndrome 2

Multiple Contracture Syndrome, Israeli-Bedouin Type

Multiple Contracture Syndrome, Israeli Bedouin Type A

Multiple Contracture Syndrome, Israeli Bedouin Type

Lethal Congenital Contracture Syndrome Type 2

Israeli Bedouin Multiple Contracture Syndrome Type A

Contracture Syndrome, Lethal, Congenital, Type 2
Hemochromatosis, Type 2b

Hemochromatosis Type 2b

HFE2B

Hemochromatosis 2b
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
Cardiomyopathy, Familial Hypertrophic, 4

Hypertrophic Cardiomyopathy 4

CMH4

Cardiomyopathy, Hypertrophic, 4

Cardiomyopathy, Familial Hypertrophic 4

Cardiomyopathy, Familial Hypertrophic, 4, Susceptibility To

Cardiomyopathy, Hypertrophic, Familial, Type 4
Arthrogryposis, Distal, Type 1a

Distal Arthrogryposis Type 1

Digitotalar Dysmorphism

DA1A

Da1

Amcd1

Arthrogryposis, Distal, Type 2b4

Distal Arthrogryposis Type 1a

Arthrogryposis, Distal, Type 1

Arthrogryposis Multiplex Congenita Distal Type 1

Arthrogryposis Multiplex Congenita, Distal Type 1

Arthrogryposis Multiplex Congenita, Distal, Type I

Distal Arthrogryposis Type 1b

Arthrogryposis, Distal, 1a

Amc

Arthrogryposis Multiplex Congenita

Arthrogryposis, Distal, 2b4

DA2B4

Arthrogryposis Multiplex Congenita, Distal, Type 1

Arthrogryposis
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
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
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-RS08874 MYBPC2 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 MYBPC2 VGNC VGNC:57354
Mus musculus MYBPC2 MGD MGI:1336170
Canis familiaris MYBPC2 VGNC VGNC:43523
Rattus norvegicus MYBPC2 RGD RGD:1311596
Felis catus MYBPC2 VGNC VGNC:68374
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