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Aliases for MYPN Gene

Aliases for MYPN Gene

  • Myopalladin 2 3 3 5
  • MYOP 3 4
  • Sarcomeric Protein Myopalladin, 145 KDa (MYOP) 3
  • Sarcomeric Protein Myopalladin, 145 KDa 2
  • 145 KDa Sarcomeric Protein 4
  • CMD1DD 3
  • CMH22 3
  • NEM11 3
  • RCM4 3

External Ids for MYPN Gene

Previous GeneCards Identifiers for MYPN Gene

  • GC10P069213
  • GC10P069535
  • GC10P069865
  • GC10P063869

Summaries for MYPN Gene

Entrez Gene Summary for MYPN Gene

  • 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]

GeneCards Summary for MYPN Gene

MYPN (Myopalladin) is a Protein Coding gene. Diseases associated with MYPN include Cardiomyopathy, Dilated, 1Kk and Nemaline Myopathy 11, Autosomal Recessive. Among its related pathways are Focal Adhesion. GO annotations related to this gene include actin binding and cytoskeletal protein binding. An important paralog of this gene is PALLD.

UniProtKB/Swiss-Prot for MYPN Gene

  • Component of the sarcomere that tethers together nebulin (skeletal muscle) and nebulette (cardiac muscle) to alpha-actinin, at the Z lines.

Gene Wiki entry for MYPN Gene

Additional gene information for MYPN Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYPN Gene

Genomics for MYPN Gene

Regulatory Elements for MYPN Gene

Enhancers for MYPN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10H068150 1.9 FANTOM5 Ensembl ENCODE dbSUPER 23.2 +48.5 48519 7 PKNOX1 FOXA2 SIN3A FEZF1 ZNF2 YY1 ZNF143 FOS SP3 REST MYPN SIRT1 HERC4 ATOH7 ENSG00000233590 RN7SKP202 DNA2 PBLD HNRNPH3
GH10H068102 1.4 Ensembl ENCODE dbSUPER 11.3 +1.4 1370 9 TBP INSM2 FEZF1 ZBTB40 ZEB1 RFX5 GTF3C2 ZNF121 POLR3A ZNF366 CCAR1 DDX50 HERC4 MYPN RPL12P8 DDX21 ATOH7 RN7SKP202
GH10H068091 1.7 FANTOM5 Ensembl ENCODE dbSUPER 6.3 -12.0 -11999 4 TBP NFIB JUN MAX RFX5 ZKSCAN1 GTF3C2 E2F1 CTBP1 ZNF316 CCAR1 DDX50 SIRT1 HNRNPH3 HERC4 ATOH7 ENSG00000233590 PBLD RPL12P8 DDX21
GH10H068173 0.8 ENCODE 12.9 +67.4 67421 0 HDGF SOX13 TFAP4 CEBPG CREM GATAD2A SOX5 FOXA3 HLF ZC3H11A MYPN DNA2 RN7SKP202 GC10M068220
GH10H068163 0.8 ENCODE 12.7 +57.9 57928 0 FOXA2 BACH1 MAX CEBPG BATF RAD21 ATF7 RUNX3 IKZF2 MIXL1 MYPN ATOH7 ENSG00000233590 HERC4 RN7SKP202 GC10M068220
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MYPN on UCSC Golden Path with GeneCards custom track

Genomic Location for MYPN Gene

Chromosome:
10
Start:
68,106,117 bp from pter
End:
68,212,017 bp from pter
Size:
105,901 bases
Orientation:
Plus strand

Genomic View for MYPN Gene

Genes around MYPN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYPN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYPN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYPN Gene

Proteins for MYPN Gene

  • Protein details for MYPN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86TC9-MYPN_HUMAN
    Recommended name:
    Myopalladin
    Protein Accession:
    Q86TC9
    Secondary Accessions:
    • Q5VV35
    • Q5VV36
    • Q86T37
    • Q8N3L4
    • Q96K90
    • Q96KF5

    Protein attributes for MYPN Gene

    Size:
    1320 amino acids
    Molecular mass:
    145257 Da
    Quaternary structure:
    • Interacts with TTN/titin, NEB, NEBL, ACTN2 and CARP.
    SequenceCaution:
    • Sequence=CAD38923.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for MYPN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MYPN Gene

Post-translational modifications for MYPN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MYPN Gene

Domains & Families for MYPN Gene

Gene Families for MYPN Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for MYPN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86TC9

UniProtKB/Swiss-Prot:

MYPN_HUMAN :
  • Belongs to the myotilin/palladin family.
Family:
  • Belongs to the myotilin/palladin family.
genes like me logo Genes that share domains with MYPN: view

Function for MYPN Gene

Molecular function for MYPN Gene

UniProtKB/Swiss-Prot Function:
Component of the sarcomere that tethers together nebulin (skeletal muscle) and nebulette (cardiac muscle) to alpha-actinin, at the Z lines.

Phenotypes From GWAS Catalog for MYPN Gene

Gene Ontology (GO) - Molecular Function for MYPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11309420
GO:0008092 cytoskeletal protein binding IPI 11309420
GO:0017124 SH3 domain binding IPI 11309420
GO:0051015 actin filament binding IBA --
GO:0051371 muscle alpha-actinin binding IPI 11309420
genes like me logo Genes that share ontologies with MYPN: view

Phenotypes for MYPN Gene

GenomeRNAi human phenotypes for MYPN:
genes like me logo Genes that share phenotypes with MYPN: view

Human Phenotype Ontology for MYPN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for MYPN Gene

miRTarBase miRNAs that target MYPN

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MYPN
  • Applied Biological Materials Clones for MYPN
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for MYPN Gene

Localization for MYPN Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYPN Gene

Cytoplasm. Nucleus. Cytoplasm, myofibril, sarcomere. Cytoplasm, myofibril, sarcomere, Z line. Note=Bound to sarcomere both at the Z-line periphery and in the central I-band region. {ECO:0000269 PubMed:11309420}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MYPN gene
Compartment Confidence
nucleus 5
cytosol 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleus (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MYPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,ISS --
GO:0005737 cytoplasm IEA --
GO:0030017 sarcomere IEA --
GO:0030018 colocalizes_with Z disc IDA,IEA 11309420
GO:0031674 I band IDA 11309420
genes like me logo Genes that share ontologies with MYPN: view

Pathways & Interactions for MYPN Gene

SuperPathway Contained pathways
1 Focal Adhesion
genes like me logo Genes that share pathways with MYPN: view

Pathways by source for MYPN Gene

1 BioSystems pathway for MYPN Gene

Gene Ontology (GO) - Biological Process for MYPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030334 regulation of cell migration IBA --
GO:0045214 sarcomere organization IMP 11309420
GO:0048739 cardiac muscle fiber development IBA --
GO:0051493 regulation of cytoskeleton organization IBA --
genes like me logo Genes that share ontologies with MYPN: view

No data available for SIGNOR curated interactions for MYPN Gene

Drugs & Compounds for MYPN Gene

(1) Drugs for MYPN Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with MYPN: view

Transcripts for MYPN Gene

Unigene Clusters for MYPN Gene

Myopalladin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MYPN
  • Applied Biological Materials Clones for MYPN
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for MYPN Gene

No ASD Table

Relevant External Links for MYPN Gene

GeneLoc Exon Structure for
MYPN
ECgene alternative splicing isoforms for
MYPN

Expression for MYPN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MYPN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYPN Gene

This gene is overexpressed in Muscle - Skeletal (x31.0), Heart - Left Ventricle (x13.0), and Heart - Atrial Appendage (x7.0).

Protein differential expression in normal tissues from HIPED for MYPN Gene

This gene is overexpressed in Liver (50.3) and Heart (11.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MYPN Gene



Protein tissue co-expression partners for MYPN Gene

NURSA nuclear receptor signaling pathways regulating expression of MYPN Gene:

MYPN

SOURCE GeneReport for Unigene cluster for MYPN Gene:

Hs.55205

mRNA Expression by UniProt/SwissProt for MYPN Gene:

Q86TC9-MYPN_HUMAN
Tissue specificity: Expressed in adult skeletal muscle and fetal heart.

Evidence on tissue expression from TISSUES for MYPN Gene

  • Muscle(4.8)
  • Heart(3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MYPN Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
  • lung
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • spinal cord
genes like me logo Genes that share expression patterns with MYPN: view

Primer Products

Orthologs for MYPN Gene

This gene was present in the common ancestor of chordates.

Orthologs for MYPN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MYPN 33 34
  • 99.55 (n)
dog
(Canis familiaris)
Mammalia MYPN 33 34
  • 90.98 (n)
cow
(Bos Taurus)
Mammalia MYPN 33 34
  • 90.57 (n)
rat
(Rattus norvegicus)
Mammalia Mypn 33
  • 84.87 (n)
mouse
(Mus musculus)
Mammalia Mypn 33 16 34
  • 84.3 (n)
oppossum
(Monodelphis domestica)
Mammalia MYPN 34
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MYPN 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYPN 33 34
  • 70.29 (n)
lizard
(Anolis carolinensis)
Reptilia MYPN 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mypn 33
  • 64.27 (n)
Str.9026 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.14463 33
zebrafish
(Danio rerio)
Actinopterygii mypn 33
  • 63.78 (n)
MYPN 34
  • 54 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.17 34
  • 39 (a)
OneToMany
Species where no ortholog for MYPN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MYPN Gene

ENSEMBL:
Gene Tree for MYPN (if available)
TreeFam:
Gene Tree for MYPN (if available)

Paralogs for MYPN Gene

Paralogs for MYPN Gene

(9) SIMAP similar genes for MYPN Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with MYPN: view

Variants for MYPN Gene

Sequence variations from dbSNP and Humsavar for MYPN Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs140148105 Pathogenic, Cardiomyopathy, dilated 1KK (CMD1KK) [MIM:615248], Cardiomyopathy, familial hypertrophic 22 (CMH22) [MIM:615248] 68,121,497(+) GAGCT(A/G)TTTAG intron-variant, nc-transcript-variant, reference, missense, utr-variant-5-prime
rs149887823 Uncertain significance, Cardiomyopathy, dilated 1KK (CMD1KK) [MIM:615248] 68,189,064(+) ACTTC(C/G/T)GGGTC nc-transcript-variant, reference, missense
rs199476401 Uncertain significance, Cardiomyopathy, familial hypertrophic 22 (CMH22) [MIM:615248] 68,121,896(+) AAATA(A/C/G)GGCTG intron-variant, nc-transcript-variant, reference, missense, utr-variant-5-prime
rs199476402 Uncertain significance, Cardiomyopathy, dilated 1KK (CMD1KK) [MIM:615248] 68,122,075(+) TTCCC(A/G)TCCCT intron-variant, nc-transcript-variant, reference, missense, utr-variant-5-prime
rs199476403 Uncertain significance, Cardiomyopathy, familial hypertrophic 22 (CMH22) [MIM:615248] 68,122,088(+) CCCTG(A/C/T)GGATA intron-variant, nc-transcript-variant, reference, missense, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for MYPN Gene

Variant ID Type Subtype PubMed ID
esv1083515 CNV deletion 17803354
esv2255501 CNV deletion 18987734
esv2738006 CNV deletion 23290073
esv3623697 CNV gain 21293372
esv3623705 CNV gain 21293372
esv3623706 CNV loss 21293372
esv3891854 CNV gain 25118596
nsv1119823 CNV deletion 24896259
nsv1145462 CNV deletion 24896259
nsv521328 CNV gain 19592680

Variation tolerance for MYPN Gene

Residual Variation Intolerance Score: 56.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 27.00; 99.80% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MYPN Gene

Human Gene Mutation Database (HGMD)
MYPN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYPN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYPN Gene

Disorders for MYPN Gene

MalaCards: The human disease database

(14) MalaCards diseases for MYPN Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cardiomyopathy, dilated, 1kk
  • cardiomyopathy, hypertrophic, 22
nemaline myopathy 11, autosomal recessive
  • nemaline myopathy 11
mypn-related cardiomyopathy
  • cardiomyopathy, dilated 1kk
mypn-related familial restrictive cardiomyopathy
  • cardiomyopathy, familial restrictive, 4
cap myopathy
  • cap disease
- elite association - COSMIC cancer census association via MalaCards
Search MYPN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MYPN_HUMAN
  • Cardiomyopathy, dilated 1KK (CMD1KK) [MIM:615248]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:18006477, ECO:0000269 PubMed:22286171, ECO:0000269 PubMed:22892539}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cardiomyopathy, familial hypertrophic 22 (CMH22) [MIM:615248]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269 PubMed:22286171}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cardiomyopathy, familial restrictive 4 (RCM4) [MIM:615248]: A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function. {ECO:0000269 PubMed:22286171}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Nemaline myopathy 11 (NEM11) [MIM:617336]: An autosomal recessive form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM11 is characterized by slowly progressive muscle weakness and atrophy, mainly affecting the lower limbs and neck. Some patients may have mild cardiac or respiratory involvement, but they do not have respiratory failure. {ECO:0000269 PubMed:28017374}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MYPN

Genetic Association Database (GAD)
MYPN
Human Genome Epidemiology (HuGE) Navigator
MYPN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYPN
genes like me logo Genes that share disorders with MYPN: view

No data available for Genatlas for MYPN Gene

Publications for MYPN Gene

  1. Interaction of nebulin SH3 domain with titin PEVK and myopalladin: implications for the signaling and assembly role of titin and nebulin. (PMID: 12482578) Ma K … Wang K (FEBS letters 2002) 2 3 4 22 60
  2. Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy. (PMID: 18006477) Duboscq-Bidot L … Villard E (Cardiovascular research 2008) 3 4 22 60
  3. Myopalladin, a novel 145-kilodalton sarcomeric protein with multiple roles in Z-disc and I-band protein assemblies. (PMID: 11309420) Bang ML … Labeit S (The Journal of cell biology 2001) 2 3 4 60
  4. Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy. (PMID: 28017374) Miyatake S … Matsumoto N (American journal of human genetics 2016) 3 4 60
  5. Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy. (PMID: 22892539) Meyer T … German Competence Network Heart Failure (European journal of human genetics : EJHG 2013) 3 4 60

Products for MYPN Gene

  • Addgene plasmids for MYPN

Sources for MYPN Gene

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