Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MYPN Gene

Aliases for MYPN Gene

  • Myopalladin 2 3 5
  • MYOP 3 4
  • Sarcomeric Protein Myopalladin, 145 KDa (MYOP) 3
  • Sarcomeric Protein Myopalladin 2
  • 145 KDa Sarcomeric Protein 4
  • 145 KDa 2
  • CMD1DD 3
  • CMH22 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 mypn-related cardiomyopathy. 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

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

Genomics for MYPN Gene

Regulatory Elements for MYPN Gene

Promoters for MYPN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs 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

Proteomics data for MYPN Gene at MOPED

Post-translational modifications for MYPN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYPN Gene

No data available for DME Specific Peptides for MYPN Gene

Domains & Families for MYPN Gene

Gene Families for MYPN Gene

Protein Domains for MYPN Gene

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 :
  • Contains 5 Ig-like (immunoglobulin-like) domains.
  • Belongs to the myotilin/palladin family.
Domain:
  • Contains 5 Ig-like (immunoglobulin-like) domains.
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.

Gene Ontology (GO) - Molecular Function for MYPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008092 cytoskeletal protein binding IPI 11309420
GO:0017124 SH3 domain 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

miRNA for MYPN Gene

miRTarBase miRNAs that target MYPN

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. Note=Bound to sarcomere both at the Z-line periphery and in the central I-band region.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MYPN Gene COMPARTMENTS Subcellular localization image for MYPN gene
Compartment Confidence
nucleus 4
cytosol 2
cytoskeleton 1

No data available for Gene Ontology (GO) - Cellular Components for MYPN Gene

Pathways & Interactions for MYPN Gene

SuperPathways for MYPN Gene

No Data Available

Gene Ontology (GO) - Biological Process for MYPN Gene

None

No data available for Pathways by source and 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:

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 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, MOPED, and MaxQB for MYPN Gene



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.
genes like me logo Genes that share expression patterns with MYPN: view

Protein tissue co-expression partners for MYPN Gene

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia MYPN 35
  • 90.57 (n)
  • 91.96 (a)
MYPN 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYPN 35
  • 90.98 (n)
  • 92.95 (a)
MYPN 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mypn 35
  • 84.3 (n)
  • 87.6 (a)
Mypn 16
Mypn 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MYPN 35
  • 99.55 (n)
  • 99.39 (a)
MYPN 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mypn 35
  • 84.87 (n)
  • 88.21 (a)
oppossum
(Monodelphis domestica)
Mammalia MYPN 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MYPN 36
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYPN 35
  • 70.29 (n)
  • 68.48 (a)
MYPN 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYPN 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mypn 35
  • 64.27 (n)
  • 63.11 (a)
Str.9026 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.14463 35
zebrafish
(Danio rerio)
Actinopterygii mypn 35
  • 63.78 (n)
  • 65.87 (a)
MYPN 36
  • 54 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.17 36
  • 39 (a)
OneToMany
Species with no ortholog for MYPN:
  • 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
rs10997975 - 68,174,164(+) TTTCA(A/C/G)CATGA nc-transcript-variant, reference, missense
rs7916821 - 68,174,212(+) ATCCA(A/G)TAAGC nc-transcript-variant, reference, missense
rs3814182 - 68,174,501(+) CCCAG(A/C/G/T)GGAAA nc-transcript-variant, reference, missense
rs11596653 - 68,148,400(+) TGCAG(C/T)CATTC nc-transcript-variant, reference, missense
rs10823148 - 68,166,577(+) TCTTT(C/G)CAGGA nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv766n71 CNV Gain 21882294
dgv767n71 CNV Gain 21882294
nsv895687 CNV Gain 21882294
nsv895688 CNV Gain 21882294
nsv521328 CNV Gain 19592680
esv1083515 CNV Deletion 17803354
esv2255501 CNV Deletion 18987734
esv2738006 CNV Deletion 23290073

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

HapMap Linkage Disequilibrium report
MYPN
Human Gene Mutation Database (HGMD)
MYPN

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

Disorders for MYPN Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
cardiomyopathy, dilated, 1kk
  • cardiomyopathy, hypertrophic, 22
mypn-related cardiomyopathy
  • cardiomyopathy, dilated 1kk
familial isolated restrictive cardiomyopathy
  • familial or idiopathic restrictive cardiomyopathy
cardiomyopathy
  • cardiomyopathies
familial isolated dilated cardiomyopathy
  • familial or idiopathic dilated cardiomyopathy
- 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.

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 Lett. 2002) 2 3 4 23 67
  2. Cytoplasmic Ig-domain proteins: cytoskeletal regulators with a role in human disease. (PMID: 19466753) Otey C.A. … Goicoechea S.M. (Cell Motil. Cytoskeleton 2009) 3 23
  3. Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy. (PMID: 18006477) Duboscq-Bidot L. … Villard E. (Cardiovasc. Res. 2008) 3 23
  4. The palladin/myotilin/myopalladin family of actin-associated scaffolds. (PMID: 16164966) Otey C.A. … Carpen O. (Int. Rev. Cytol. 2005) 3 23
  5. Myopalladin, a novel 145-kilodalton sarcomeric protein with multiple roles in Z-disc and I-band protein assemblies. (PMID: 11309420) Bang M.-L. … Labeit S. (J. Cell Biol. 2001) 2 3

Products for MYPN Gene

Sources for MYPN Gene

Back to Top

Content