MYOCD - myocardin Gene

Also Known as MGBL; MYCD

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 93649

About 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.

Summary

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 Products (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
Molecular Function GO Annotation Evidence References Source
enables DNA-binding transcription factor binding IPI
IPI: Inferred from physical interaction
16054032 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12397177 GOA
enables transcription coactivator activity IDA
IDA: Inferred from direct assay
19578358 GOA
Biological Process GO Annotation Evidence References Source
involved in cardiac muscle cell myoblast differentiation IDA
IDA: Inferred from direct assay
15907818 GOA
involved in negative regulation of amyloid-beta clearance IMP
IMP: Inferred from mutant phenotype
19098903 GOA
involved in negative regulation of cell population proliferation IDA
IDA: Inferred from direct assay
18451334 GOA
involved in negative regulation of cyclin-dependent protein serine/threonine kinase activity IDA
IDA: Inferred from direct assay
18451334 GOA
involved in negative regulation of skeletal muscle cell differentiation IDA
IDA: Inferred from direct assay
18451334 GOA
involved in positive regulation of DNA-binding transcription factor activity IDA
IDA: Inferred from direct assay
19098903 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
19797053 GOA
involved in positive regulation of cardiac muscle cell differentiation IDA
IDA: Inferred from direct assay
18451334 GOA
involved in positive regulation of smooth muscle cell differentiation IDA
IDA: Inferred from direct assay
18451334 GOA
involved in positive regulation of smooth muscle contraction IDA
IDA: Inferred from direct assay
17215356 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
14970199 GOA
involved in response to hypoxia IEP
IEP: Inferred from expression pattern
19098903 GOA
involved in smooth muscle cell differentiation IDA
IDA: Inferred from direct assay
15907818 GOA
involved in smooth muscle cell differentiation IMP
IMP: Inferred from mutant phenotype
14970199 GOA
involved in urinary bladder development IMP
IMP: Inferred from mutant phenotype
31513549 GOA
Cellular Component GO Annotation Evidence References Source
located in nucleus IDA
IDA: Inferred from direct assay
14970199 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MYOCD Protein Structure

RPEL

RPEL: RPEL repeat (106 - 130)

SAP

SAP: SAP domain (372 - 404)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 938 a.a.
Protein Preferred Names Protein Names

myocardin

MYOCD Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
MYOCD Q8IZQ8 GOPC Homo sapiens Q9HD26 25416956
Intra
MYOCD Q8IZQ8 GOPC Homo sapiens Q9HD26 25416956
Intra
MYOCD Q8IZQ8 GOPC Homo sapiens Q9HD26 31515488
Intra
MYOCD Q8IZQ8 SRF Homo sapiens P11831 12397177
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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]

Diseases Alias
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

Orthologs Information

Species Symbol Source 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
Others MYOCD NCBI