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Aliases for MYPN Gene

Aliases for MYPN Gene

  • Myopalladin 2 3
  • CMD1DD 3 6
  • CMH22 3 6
  • RCM4 3 6
  • MYOP 3 4
  • Sarcomeric Protein Myopalladin, 145 KDa (MYOP) 3
  • Sarcomeric Protein Myopalladin 2
  • 145 KDa Sarcomeric Protein 4
  • 145 KDa 2

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 familial isolated restrictive cardiomyopathy. GO annotations related to this gene include actin binding and cytoskeletal protein binding. An important paralog of this gene is MYOT.

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

Genomic Location for MYPN Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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; 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 for MYPN Gene

Gene Families for MYPN Gene

HGNC:
  • ISET :Immunoglobulin superfamily / I-set domain containing

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 :
  • Q86TC9
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:0003779 actin binding IEA --
GO:0005515 protein binding IPI 11309420
GO:0008092 cytoskeletal protein binding IPI 11309420
GO:0017124 SH3 domain binding IPI 11309420
GO:0051371 muscle alpha-actinin binding IPI 11309420
genes like me logo Genes that share ontologies with MYPN: view

Animal Model Products

miRNA for MYPN Gene

miRTarBase miRNAs that target MYPN

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MYPN

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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
cytoskeleton 4
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for MYPN Gene

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

Pathways for MYPN Gene

SuperPathways for MYPN Gene

No Data Available

Gene Ontology (GO) - Biological Process for MYPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045214 sarcomere organization IMP 11309420
genes like me logo Genes that share ontologies with MYPN: view

No data available for Pathways by source for MYPN Gene

Compounds for MYPN Gene

(1) Novoseek inferred chemical compound relationships for MYPN Gene

Compound -log(P) Hits PubMed IDs
calcium 0 1
genes like me logo Genes that share compounds with MYPN: view

Transcripts for MYPN Gene

Unigene Clusters for MYPN Gene

Myopalladin:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MYPN

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for MYPN

Flow Cytometry Products

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 (31.0), Heart - Left Ventricle (13.0), and Heart - Atrial Appendage (7.0).

Integrated Proteomics: protein expression 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 expressions with MYPN: view

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
chimpanzee
(Pan troglodytes)
Mammalia MYPN 35
  • 99.55 (n)
  • 99.39 (a)
MYPN 36
  • 99 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia MYPN 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MYPN 36
  • 69 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mypn 35
  • 84.87 (n)
  • 88.21 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia Xl.14463 35
tropical clawed frog
(Silurana tropicalis)
Amphibia mypn 35
  • 64.27 (n)
  • 63.11 (a)
Str.9026 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

Selected 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 MAF
rs1673 -- 68,211,575(-) TTAGA(A/G)TAAAG utr-variant-3-prime, nc-transcript-variant
rs876489 -- 68,211,138(+) TACCA(C/G)CTTGT utr-variant-3-prime, nc-transcript-variant
rs881975 -- 68,211,828(-) CCCTG(C/T)ACAGC utr-variant-3-prime, nc-transcript-variant
rs881976 -- 68,211,810(-) AAACT(A/G)TGCTG utr-variant-3-prime, nc-transcript-variant
rs960772 -- 68,171,917(+) TTGTC(A/G)TTGCC intron-variant

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

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

(1) OMIM Diseases for MYPN Gene (608517)

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

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
  2. Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy. (PMID: 18006477) Duboscq-Bidot L. … Villard E. (Cardiovasc. Res. 2008) 3 4 23
  3. 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 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 3 4

Products for MYPN Gene

Sources for MYPN Gene

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