MYPN - myopalladin Gene

Also Known as MYOP; RCM4; CMH22; NEM11; CMD1DD

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84665

About MYPN

Cytogenetic location: 10q21.3 Genomic coordinates (GRCh38): 10:68,087,897-68,212,017 (from NCBI)

This gene has 23 transcripts (splice variants), 217 orthologues, 9 paralogues and is associated with 8 phenotypes. Biased expression in heart (RPKM 21.7) and prostate (RPKM 1.5).

Summary

Striated muscle in vertebrates comprises large proteins which must be organized properly to contract efficiently. Z-lines in striated muscle are a sign of this organization, representing the ends of actin thin filaments, titin, nebulin or nebulette and accessory proteins required for structure and function. This gene encodes a protein which interacts with nebulin in skeletal muscle or nebulette in cardiac muscle and alpha-actinin. In addition, this gene product can interact with a protein with the I-band indicating it has a regulatory as well as structural function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]

MYPN Products (3)

mRNA	Protein	Name
NM_001256267.2	NP_001243196.1	myopalladin isoform a
NM_001256268.2	NP_001243197.1	myopalladin isoform b
NM_032578.4	NP_115967.2	myopalladin isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables SH3 domain binding	IPI IPI: Inferred from physical interaction	11309420	GOA
enables cytoskeletal protein binding	IPI IPI: Inferred from physical interaction	11309420	GOA
enables muscle alpha-actinin binding	IPI IPI: Inferred from physical interaction	11309420	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11309420	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in sarcomere organization	IMP IMP: Inferred from mutant phenotype	11309420	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in I band	IDA IDA: Inferred from direct assay	11309420	GOA
colocalizes with Z disc	IDA IDA: Inferred from direct assay	11309420	GOA
located in Z disc	IDA IDA: Inferred from direct assay	28017374	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

MYPN Protein Structure

I-set

0
300
600
900
1200
1320 a.a.

Protein Preferred Names	Protein Names
myopalladin	sarcomeric protein myopalladin, 145 kDa (MYOP)

MYPN Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MYPN	Q86TC9	NEB	Homo sapiens	P20929	Fluorescence Spectr	12482578

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Cardiomyopathy, Dilated, 1kk	Cardiomyopathy, Familial Restrictive, 4 Dilated Cardiomyopathy 1kk CMD1KK Cardiomyopathy, Hypertrophic, 22 Cardiomyopathy, Dilated 1kk Cardiomyopathy, Familial Hypertrophic 22 CMH22 Cardiomyopathy, Familial Restrictive 4 RCM4 Familial Hypertrophic Cardiomyopathy 22 Cardiomyopathy, Dilated, Type 1kk Cardiomyopathy, Familial Hypertrophic, 22
Nemaline Myopathy 11, Autosomal Recessive	NEM11 Nemaline Myopathy 11
Cap Myopathy	Cap Disease Congenital Myopathy With Caps
Familial Isolated Restrictive Cardiomyopathy	Familial Or Idiopathic Restrictive Cardiomyopathy
Childhood-Onset Nemaline Myopathy	Mild Nemaline Myopathy Nemaline Myopathy, Childhood Onset
Familial Isolated Dilated Cardiomyopathy	Familial Or Idiopathic Dilated Cardiomyopathy
Cardiomyopathy, Familial Restrictive, 2	RCM2 Restrictive Cardiomyopathy 2 Familial Restrictive Cardiomyopathy 2 Cardiomyopathy, Restrictive, Familial, Type 2
Cardiomyopathy, Familial Restrictive, 3	RCM3 Restrictive Cardiomyopathy 3 Familial Restrictive Cardiomyopathy 3 Cardiomyopathy, Familial Restrictive 3 Cardiomyopathy, Restrictive, Familial, Type 3
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
Mitochondrial Dna Depletion Syndrome 12b
Myopathy, Spheroid Body	Spheroid Body Myopathy Autosomal Dominant Spheroid Body Myopathy SBM
Myopathy, Myofibrillar, 3	Myotilinopathy Myofibrillar Myopathy 3 MFM3 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a Lgmd1a Muscular Dystrophy, Limb-Girdle, Type 1a Myopathy, Myofibrillar, Myotilin-Related Muscular Dystrophy, Limb-Girdle, Type 1, Formerly Lgmd1, Formerly Muscular Dystrophy, Limb-Girdle, Type 1a, Formerly Lgmd1a, Formerly Qualitative Or Quantitative Defects Of Myotilin Limb-Girdle Muscular Dystrophy Due To Myotilin Deficiency Distal Myotilinopathy Lgmd1 Limb-Girdle Muscular Dystrophy 1a Mfm Myotilin-Related Muscular Dystrophy, Limb-Girdle, Type 1 Myopathy Myofibrillar Myotylin-Related Myopathy, Myofibrillar, Type 3
Cardiomyopathy, Familial Restrictive, 1	RCM1 Restrictive Cardiomyopathy 1 Rcm Familial Restrictive Cardiomyopathy 1 Cardiomyopathy, Familial Restrictive 1 Cardiomyopathy, Restrictive, Familial, Type 1 Rcm-1
Nemaline Myopathy 10	NEM10 Myopathy, Nemaline, Type 10
Congenital Structural Myopathy
Nemaline Myopathy 8	NEM8 Nemaline Myopathy 8, Autosomal Recessive Myopathy, Nemaline, Type 8
Myopathy	Muscular Diseases Myopathies
Myopathy, Myofibrillar, 4	Myofibrillar Myopathy 4 MFM4 Zaspopathy Myopathy, Myofibrillar, Zasp-Related
Respiratory Failure	Acute Respiratory Failure Chronic Respiratory Failure Respiratory Insufficiency Acute-On-Chronic Respiratory Failure Respiratory Disease Acute And Chronic Respiratory Failure Respiratory Insufficiency/Failure Chronic Respiratory Disease Pulmonary Valve Insufficiency Chronic Disease Of Respiratory System Respiration Disorders Respiratory Tract Diseases Lung Failure Nos Pulmonary Failure Arf - [Acute Respiratory Failure] Acute Respiratory Insufficiency Acute Pulmonary Insufficiency Acute Respiration Failure Chronic Respiration Failure
Nemaline Myopathy 2	NEM2 Nemaline Myopathy 2, Autosomal Recessive Nemaline Myopathy, Type 2 Neb-Related Nemaline Myopathy Myopathy, Nemaline, Type 2
First-Degree Atrioventricular Block	First Degree Atrioventricular Block First Degree Heart Block Incomplete Atrioventricular Block, First Degree First Degree Atrioventricular Heart Block
Myopathy, Myofibrillar, 1	Desmin-Related Myofibrillar Myopathy Desmin-Related Myopathy MFM1 Myopathy, Myofibrillar, Desmin-Related Drm Myofibrillar Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy Desmin-Related Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy Myofibrillar Myopathy 1 Desminopathy Muscular Dystrophy, Limb-Girdle, Type 2r Arrhythmogenic Right Ventricular Dysplasia, Familial, 7 Desminopathy, Primary Arrhythmogenic Right Ventricular Dysplasia, Familial, 7, Formerly Arvd7, Formerly Arrhythmogenic Right Ventricular Cardiomyopathy 7, Formerly Arvc7, Formerly Inclusion Body Myopathy 1, Autosomal Dominant, Formerly Ibm1, Formerly Cardiomyopathy, Dilated, 1f And Limb-Girdle Muscular Dystrophy Type 1d, Formerly Cmd1f And Lgmd1d, Formerly Cardiomyopathy, Dilated, With Conduction Defect And Muscular Dystrophy Cdcd3, Formerly Muscular Dystrophy, Limb-Girdle, Type 2r, Formerly Lgmd2r, Formerly Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r Arrhythmogenic Right Ventricular Cardiomyopathy 7 Arvc7 Arvd7 Autosomal Dominant Inclusion Body Myopathy 1 Cdcd3 Cmd1f And Lgmd1d Desminopathy Primary Dilated Cardiomyopathy 1f And Limb-Girdle Muscular Dystrophy Type 1d Dilated Cardiomyopathy With Conduction Defect And Muscular Dystrophy Familial Arrhythmogenic Right Ventricular Dysplasia 7 Lgmd2r Limb-Girdle Muscular Dystrophy 2r Mfm Desmin-Related Myopathy Myofibrillar Desmin-Related Dystrophy, Muscular, Limb-Girdle, Type 2r
Restrictive Cardiomyopathy	Familial Restrictive Cardiomyopathy Cardiomyopathy, Restrictive Cardiomyopathy, Constrictive Primary Restrictive Cardiomyopathy Rcm Cardiomyopathy Restrictive
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Hereditary Myopathy With Early Respiratory Failure Hmerf Myopathy, Proximal, With Early Respiratory Muscle Involvement Edstrom Myopathy Mfm-Titinopathy MFM9 Mprm Hereditary Inclusion Body Myopathy With Early Respiratory Failure Hibm-Erf Myofibrillar Myopathy-Titinopathy Myofibrillar Myopathy With Early Respiratory Failure Myopathy, Distal, With Early Respiratory Failure, Autosomal Dominant Myofibrillar Myopathy 9 Myofibrillar Myopathy 9 With Early Respiratory Failure Autosomal Dominant Distal Myopathy With Early Respiratory Failure Proximal Myopathy With Early Respiratory Muscle Involvement Hereditary Proximal Myopathy With Early Respiratory Failure Admerf Edström Myopathy Hmerf-Erf
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]
Endocardial Fibroelastosis	Endomyocardial Fibroelastosis Elastomyofibrosis EFE Efe - [Endocardial Fibroelastosis] Primary Endocardial Fibroelastosis Fibroelastosis Cordis Fetal Endocarditis Fibroelastosis Congenital Endocardial Fibroelastosis Congenital Valvular Endocarditis
Muscular Dystrophy, Congenital, Lmna-Related	Congenital Muscular Dystrophy Congenital Muscular Dystrophy Due To Lmna Mutation MDCL L-Cmd Lmna-Related Congenital Muscular Dystrophy Muscular Dystrophy, Congenital Congenital Muscular Dystrophy Lmna-Related Lmna-Related Cmd Cmd Mdc Muscular Dystrophy Congenital Lmna-Related Dystrophy, Muscular, Congenital, Lmna-Related Dystrophy, Muscular, Congenital Hereditary Muscular Dystrophy Congenital Hereditary Muscular Dystrophy Congenital Progressive Muscular Dystrophy Hereditary Progressive Muscular Dystrophy
Tibial Muscular Dystrophy	Tmd Udd Myopathy Distal Titinopathy Finnish Tibial Muscular Dystrophy Tardive Tibial Muscular Dystrophy Udd Type Distal Myopathy Udd Distal Myopathy Udd-Markesbery Muscular Dystrophy Distal Myopathy, Udd Type Distal Myopathies Tibial Muscular Dystrophy, Tardive
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
Batten-Turner Congenital Myopathy	Congenital Myopathy Batten Turner Congenital Myopathy Myopathy Congenital Myopathy, Congenital Myotonia Congenita Benign Congenital Myopathy
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
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
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08967	MYPN Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	MYPN	RGD	RGD:1308510
Bos taurus	MYPN	VGNC	VGNC:31843
Canis familiaris	MYPN	VGNC	VGNC:43586
Macaca mulatta	MYPN	VGNC	VGNC:75007
Mus musculus	MYPN	MGD	MGI:1916052
Others	MYPN	NCBI