1. Gene
  2. MYOCD - myocardin Gene

MYOCD - myocardin Gene

中文名称:心肌素

种属: Homo sapiens

同用名: MGBL; MYCD

基因 ID: 93649 | 基因类型: protein coding

关于 MYOCD

Cytogenetic location: 17p12 Genomic coordinates (GRCh38): 17:12,665,890-12,768,949 (from NCBI)

This gene has 5 transcripts (splice variants), 198 orthologues, 2 paralogues and is associated with 2 phenotypes. Broad expression in esophagus (RPKM 7.3), endometrium (RPKM 5.9) and 15 other tissues.

功能概要

该基因编码一种核蛋白,在心脏、主动脉和含有平滑肌细胞的组织中表达。它作为血清反应因子 (SRF) 的转录共激活因子发挥作用,并调节心肌和平滑肌特异性 SRF 靶基因的表达,因此可能在平滑肌细胞谱系的心脏发生和分化中发挥关键作用。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2009 年 9 月]

This gene encodes a nuclear protein, which is expressed in heart, aorta, and in smooth muscle cell-containing tissues. It functions as a transcriptional co-activator of serum response factor (SRF) and modulates expression of cardiac and smooth muscle-specific SRF-target genes, and thus may play a crucial role in cardiogenesis and differentiation of the smooth muscle cell lineage. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

MYOCD 基因产物(3)

mRNA Protein Name
NM_001146312.3 NP_001139784.1 myocardin isoform 1
NM_001378306.1 NP_001365235.1 myocardin isoform 3
NM_153604.4 NP_705832.1 myocardin isoform 2
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 DNA-binding transcription factor binding IPI
IPI: 通过物理相互作用推断
16054032 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12397177 GOA
enables transcription coactivator activity IDA
IDA: 通过直接分析推断
19578358 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cardiac muscle cell myoblast differentiation IDA
IDA: 通过直接分析推断
15907818 GOA
involved in negative regulation of amyloid-beta clearance IMP
IMP: 通过突变表型推断
19098903 GOA
involved in negative regulation of cell population proliferation IDA
IDA: 通过直接分析推断
18451334 GOA
involved in negative regulation of cyclin-dependent protein serine/threonine kinase activity IDA
IDA: 通过直接分析推断
18451334 GOA
involved in negative regulation of skeletal muscle cell differentiation IDA
IDA: 通过直接分析推断
18451334 GOA
involved in positive regulation of DNA-binding transcription factor activity IDA
IDA: 通过直接分析推断
19098903 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
19797053 GOA
involved in positive regulation of cardiac muscle cell differentiation IDA
IDA: 通过直接分析推断
18451334 GOA
involved in positive regulation of smooth muscle cell differentiation IDA
IDA: 通过直接分析推断
18451334 GOA
involved in positive regulation of smooth muscle contraction IDA
IDA: 通过直接分析推断
17215356 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
14970199 GOA
involved in response to hypoxia IEP
IEP: 通过表达模式推断
19098903 GOA
involved in smooth muscle cell differentiation IDA
IDA: 通过直接分析推断
15907818 GOA
involved in smooth muscle cell differentiation IMP
IMP: 通过突变表型推断
14970199 GOA
involved in urinary bladder development IMP
IMP: 通过突变表型推断
31513549 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
14970199 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

MYOCD 蛋白结构

RPEL

RPEL: RPEL repeat (106 - 130)

SAP

SAP: SAP domain (372 - 404)

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

myocardin

MYOCD 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
MYOCD Q8IZQ8 GOPC Homo sapiens Q9HD26
Validated Y2H
25416956
种属内
MYOCD Q8IZQ8 GOPC Homo sapiens Q9HD26
Y2H Array
25416956
种属内
MYOCD Q8IZQ8 GOPC Homo sapiens Q9HD26
Y2H Array
31515488
种属内
MYOCD Q8IZQ8 SRF Homo sapiens P11831
Pull Down
12397177
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
Megabladder, Congenital

MGBL

Congenital Megabladder

Prune Belly Syndrome

Eagle-Barrett Syndrome

Abdominal Muscle Deficiency Syndrome

PBS

Abdominal Muscles, Absence Of, With Urinary Tract Abnormality And Cryptorchidism

Egbrs

Eagle-Barret Syndrome

Urethral Obstruction Sequence

Obrinsky Syndrome

Triad Syndrome

Obrisnksy Syndrome

Euos

Early Urethral Obstruction Sequence

Renal Dysplasia Or Hydronephrosis, Oligohydramnios And Subsequent Lung Hypoplasia Due To Urethral Obstruction

Absence Of Abdominal Muscles With Urinary Tract Abnormality And Cryptorchidism

Abdomen Muscle Deficiency Syndrome

Abdomen Muscular Deficiency Syndrome

Abdominal Muscular Deficiency Syndrome

Abdominal Muscle Aplasia Syndrome

Lung Leiomyosarcoma

Pulmonary Leiomyosarcoma

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Berdon Syndrome

MMIHS

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

Megacystis, Microcolon, Hypoperistalsis Syndrome

Visceral Myopathy

Mmih Syndrome

Megacystis-Microcolon-Intestinal Hypoperistalsis-Hydronephrosis Syndrome

MMIHS1

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Mmih

Mmhs

Aortic Aneurysm, Familial Thoracic 1

Thoracic Aortic Aneurysm

Annuloaortic Ectasia

Familial Thoracic Aortic Aneurysm And Aortic Dissection

Familial Aortic Dissection

Familial Taad

Familial Thoracic Aortic Aneurysm

Congenital Aneurysm Of Ascending Aorta

Familial Aortic Aneurysm

Familial Thoracic Aortic Aneurysm And Dissection

Aortic Aneurysm, Thoracic

AAT1

Faa1

Aortic Dissection, Familial

Aortic Aneurysm, Familial Thoracic

Aneurysm, Thoracic Aortic

Faa

Ftaad

Taa

Taad

Cystic Medial Necrosis Of Aorta

Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection

Aortic Aneurysm Thoracic

Familial Aortic Aneurysms

Aneurysm, Aortic, Thoracic, Familial, Type 1

Aneurysm Of Thoracic Aorta

Intrathoracic Aneurysm

Thoracic Aorta Aneurysm

Thoracic Aortic Aneurysm Without Rupture

Thoracic Aneurysm

Thorax Arterial Aneurysm

Thoracic Artery Aneurysm

Thoracic Arterial Aneurysm

Thorax Aneurysm

Thorax Aortic Aneurysm

Dissection Of Thoracic Aorta

Patent Ductus Arteriosus 1

Patent Ductus Arteriosus

PDA1

Pda

Ductus Arteriosus, Patent

Patent Ductus Arteriosus, Susceptibility To

Patent Ductus Botalli

Patency Of The Ductus Arteriosus

Patent Ductus Arteriosus Familial

Ductus Arteriosus Patent

Patent Ductus Arteriosus - Persisting Type

Ventricular Septal Defect

Ventricular Septal Defects

Interventricular Septal Defect

Heart Septal Defects, Ventricular

Ventricular Septal Abnormality

Interventricular Septum Defect

Ventricular Septum Defect

Vsd - [Ventricular Septum Defect]

Congenital Ventricular Septal Defect

Single Ventricular Septal Defect

Hypertension, Essential

Essential Hypertension

Hypertension

High Blood Pressure

Hypertension, Essential, Susceptibility To

Hypertensive Disease

Primary Hypertension

EHT

Hypertension, Salt-Sensitive Essential, Susceptibility To

Hyperpiesia

Idiopathic Hypertension

Hypertensive Disorder

Hypertension, Essential, Susceptibility To, 3

Hypertension, Essential 3

Hypertension, Essential, Salt-Sensitive

Hypertension, Essential, Susceptibility To, 6

Hypertension, Essential 6

Hypertension, Salt-Sensitive Essential

Hypertension, Susceptibility To

Hypertension, Essential, Susceptibility To, 4

Hypertension, Essential 4

Hypertension, Essential, Susceptibility To, 2

Hypertension, Essential 2

Hypertension, Essential, Susceptibility To, 1

Hypertension, Essential 1

Hypertension, Essential, Susceptibility To, 5

Hypertension, Essential 5

Htn

Vascular Hypertensive Disorder

Systemic Primary Arterial Hypertension

Hbp - [High Blood Pressure]

Systemic Arterial Hypertensive Disorder

Elevated Blood Pressure

Arterial Hypertension Nos

Hypertension Nos

Benign Hypertension

Systemic Arterial Hypertension

Systemic Hypertension

Artery Htn

Benign Htn

Vascular Htn

Vascular Hypertension

Cholesterol Hypertension

Cholesterol Htn

Idiopathic Htn

Malignant Hypertension

Malignant Htn

Raised Blood Pressure

Cardiovascular Hypertension

Primary Htn - [Hypertension]

High Arterial Tension

High Blood Pressure Disorder

Ht - [Hypertension]

Htn - [Hypertension]

Hypertensive Vascular Disease

Hypertensive Vascular Degeneration

Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers

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

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

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]

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

直系同源

种属 基因名 来源 基因 ID
Mus musculus MYOCD MGD MGI:2137495
Macaca mulatta MYOCD VGNC VGNC:74970
Felis catus MYOCD VGNC VGNC:63690
Rattus norvegicus MYOCD RGD RGD:631347
Canis familiaris MYOCD VGNC VGNC:43577
Bos taurus MYOCD VGNC VGNC:31834