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MYPN Gene

protein-coding   GIFtS: 55
GCID: GC10P069865

Myopalladin

  See MYPN-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
myopalladin1 2     145 KDa1
MYOP2 3     Sarcomeric Protein Myopalladin1
CMD1DD2 5     Sarcomeric Protein Myopalladin, 145 KDa (MYOP)2
CMH222 5     145 KDa Sarcomeric Protein3
RCM42 5     

External Ids:    HGNC: 232461   Entrez Gene: 846652   Ensembl: ENSG000001383477   OMIM: 6085175   UniProtKB: Q86TC93   

Export aliases for MYPN gene to outside databases

Previous GC identifers: GC10P069213 GC10P069535 GC10P063869


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 cardiomyopaty, familial restrictive 4. GO annotations related to this gene include cytoskeletal protein binding and actin binding. An important paralog of this gene is MYOT.

UniProtKB/Swiss-Prot: MYPN_HUMAN, Q86TC9
Function: 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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NT_030059.14  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MYPN gene promoter:
         NF-1   Pax-5   FOXL1   POU2F1   CBF-B   CBF-A   POU2F1a   CP1A   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMYPN promoter sequence
   Search Chromatin IP Primers for MYPN

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MYPN


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q21.3   Ensembl cytogenetic band:  10q21.3   HGNC cytogenetic band: 10q22.1

MYPN Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYPN gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P069865:  view genomic region     (about GC identifiers)

Start:
69,865,912 bp from pter      End:
69,971,774 bp from pter
Size:
105,863 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MYPN_HUMAN, Q86TC9 (See protein sequence)
Recommended Name: Myopalladin  
Size: 1320 amino acids; 145257 Da
Subunit: Interacts with TTN/titin, NEB, NEBL, ACTN2 and CARP
Sequence caution: Sequence=CAD38923.2; Type=Erroneous initiation;
Secondary accessions: Q5VV35 Q5VV36 Q86T37 Q8N3L4 Q96K90 Q96KF5
Alternative splicing: 3 isoforms:  Q86TC9-1   Q86TC9-2   Q86TC9-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MYPN: NX_Q86TC9

Explore proteomics data for MYPN at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MYPN Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001243196.1  NP_001243197.1  NP_115967.2  

    ENSEMBL proteins: 
     ENSP00000346369   ENSP00000351790   ENSP00000362779   ENSP00000441668  

    MYPN Human Recombinant Protein Products:

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    Novus Biologicals MYPN Protein
    Browse Sino Biological Recombinant Proteins
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    Cloud-Clone Corp. Proteins for MYPN

     
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    antibodies-online proteins for MYPN (2 products) 

     
    antibodies-online peptides for MYPN

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    antibodies-online antibodies for MYPN (26 products) 

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    antibodies-online kits for MYPN (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ISET: Immunoglobulin superfamily / I-set domain containing

    4 InterPro protein domains:
     IPR003598 Ig_sub2
     IPR013098 Ig_I-set
     IPR013783 Ig-like_fold
     IPR007110 Ig-like_dom

    Graphical View of Domain Structure for InterPro Entry Q86TC9

    ProtoNet protein and cluster: Q86TC9

    2 Blocks protein domains:
    IPB003598 Immunoglobulin C-2 type
    IPB013098 Immunoglobulin I-set


    UniProtKB/Swiss-Prot: MYPN_HUMAN, Q86TC9
    Similarity: Belongs to the myotilin/palladin family
    Similarity: Contains 5 Ig-like (immunoglobulin-like) domains


    Find genes that share domains with MYPN           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MYPN_HUMAN, Q86TC9
    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): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005515protein binding IPI11309420
    GO:0008092cytoskeletal protein binding IPI11309420
    GO:0017124SH3 domain binding IPI11309420
    GO:0051371muscle alpha-actinin binding IPI11309420
         
    Find genes that share ontologies with MYPN           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for MYPN

    miRNA
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    miRTarBase miRNAs that target MYPN:
    hsa-mir-128-3p (MIRT021986), hsa-mir-124-3p (MIRT022358), hsa-mir-335-5p (MIRT017101)

    Block miRNA regulation of human, mouse, rat MYPN using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MYPN (see all 25):
    hsa-miR-498 hsa-miR-875-3p hsa-miR-218-1* hsa-miR-4263 hsa-miR-1244 hsa-miR-9 hsa-miR-550b hsa-miR-330-3p
    SwitchGear 3'UTR luciferase reporter plasmidMYPN 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MYPN

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    GenScript: all cDNA clones in your preferred vector: MYPN (NM_032578)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MYPN

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYPN


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MYPN_HUMAN, Q86TC9: Cytoplasm. Nucleus (By similarity). Cytoplasm, myofibril, sarcomere. Note=Bound to sarcomere
    both at the Z-line periphery and in the central I-band region
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton4
    nucleus3
    cytosol2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0015630microtubule cytoskeleton ----
    GO:0030018colocalizes with Z disc IDA11309420
    GO:0031674I band IDA11309420

    Find genes that share ontologies with MYPN           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MYPN
    Interactions:

        GeneGlobe Interaction Network for MYPN

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for MYPN (Q86TC91, 2, 3 ENSP000003517904) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NEBP209291, 2, 3, ENSP000003862594EBI-2562606,EBI-1049657 MINT-7032393 MINT-7032374 I2D: score=3 STRING: ENSP00000386259
    ACTN2P356093, ENSP000003555374I2D: score=2 STRING: ENSP00000355537
    ANKRD1Q153273, ENSP000003607624I2D: score=2 STRING: ENSP00000360762
    NEBLO760413, ENSP000003663264I2D: score=2 STRING: ENSP00000366326
    ANKRD23Q86SG23, ENSP000003216794I2D: score=2 STRING: ENSP00000321679
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0045214sarcomere organization IMP11309420

    Find genes that share ontologies with MYPN           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MYPN

    1 Novoseek inferred chemical compound relationship for MYPN gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 0 1 16902413 (1)



    Find genes that share compounds with MYPN           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MYPN gene (3 alternative transcripts): 
    NM_001256267.1  NM_001256268.1  NM_032578.3  

    Unigene Cluster for MYPN:

    Myopalladin
    Hs.55205  [show with all ESTs]
    Unigene Representative Sequence: NM_001256268
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000354393 ENST00000358913(uc001jnl.1 uc001jnm.4 uc001jnn.4 uc001jno.4 uc009xps.3 uc009xpt.3 uc010qit.2 uc010qiu.2)
    ENST00000373675(uc001jnp.1) ENST00000540630
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MYPN using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MYPN (see all 25):
    hsa-miR-498 hsa-miR-875-3p hsa-miR-218-1* hsa-miR-4263 hsa-miR-1244 hsa-miR-9 hsa-miR-550b hsa-miR-330-3p
    SwitchGear 3'UTR luciferase reporter plasmidMYPN 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: MYPN (NM_032578)
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    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for MYPN
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MYPN
      QuantiTect SYBR Green Assays in human, mouse, rat MYPN
      QuantiFast Probe-based Assays in human, mouse, rat MYPN

    Additional mRNA sequence: 

    AF328296.1 AL832002.2 AL832379.1 AL834247.2 BC142609.1 BC144333.1 BC144334.1 BX647637.1 
    BX647640.1 BX648564.1 NR_045662.3 NR_045663.3 

    6 DOTS entries:

    DT.95364444  DT.97762529  DT.95153656  DT.100755009  DT.121298069  DT.121298113 

    Selected AceView cDNA sequences (see all 66):

    BX500271 BF826605 CB136621 CD634128 AL598047 CD634127 BF836591 BQ359306 
    BM721886 BI000763 F16301 BF826659 AL832379 CD634134 CD634139 AL598037 
    BX647637 AL834247 F24218 AA179599 CD634140 NM_032578 CD634131 CD634136 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MYPN expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCTCCTGCC
    MYPN Expression
    About this image


    MYPN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Bone (Muscoskeletal System)
             Zeugopod Growth Plate
     
     Heart (Cardiovascular System)
     
     Liver (Hepatobiliary System)
     
     Skeletal Muscle (Muscoskeletal System)
     
     Larynx (Respiratory System)
    MYPN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MYPN Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.55205

    UniProtKB/Swiss-Prot: MYPN_HUMAN, Q86TC9
    Tissue specificity: Expressed in adult skeletal muscle and fetal heart

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYPN

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for MYPN gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mypn1 , 5 myopalladin1, 5 84.3(n)1
    87.6(a)1
      10 (32.54 cM)5
    688021  NM_182992.21  NP_892037.21 
     631157955 
    chicken
    (Gallus gallus)
    Aves MYPN1 myopalladin 70.29(n)
    68.48(a)
      423684  XM_004942018.1  XP_004942075.1 
    lizard
    (Anolis carolinensis)
    Reptilia MYPN6
    myopalladin
    67(a)
    1 ↔ 1
    GL343215.1(1389226-1438920)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.144632 Xenopus laevis transcribed sequence with moderate similarity more 74.59(n)    BJ071900.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mypn1 myopalladin 63.78(n)
    65.87(a)
      571695  XM_695308.6  XP_700400.6 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MYPN gene
    MYOT2  PALLD2  OBSL12  
    9 SIMAP similar genes for MYPN using alignment to 5 protein entries:     MYPN_HUMAN (see all proteins):
    DKFZp586L0518    DKFZp686I10125    KIAA0992    PALLD    PTPRF    MYLK
    MYOT    PTPRS    MUSK

    Find genes that share paralogs with MYPN           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MYPN (see all 2710)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1401481051,2,,4
    C,FCardiomyopathy, dilated 1KK (CMD1KK)4 untested170256888(+) GAGCTA/GTTTAG 7 Y C mis1 ut51 int12Minor allele frequency- G:0.00NA EU 5875
    rs715845011,2,,4
    CCardiomyopathy, dilated 1KK (CMD1KK)4 untested170332893(+) GGGGCA/GCCTCT 8 H R mis10--------
    rs715342801,2,,4
    C,FCardiomyopathy, dilated 1KK (CMD1KK)4 untested170337348(+) GCCGCG/ATGATA 8 /M /V mis11Minor allele frequency- A:0.00NA 4552
    VAR_0696574
    Cardiomyopathy, dilated 1KK (CMD1KK)4--see VAR_0696572 P L mis40--------
    VAR_0696594
    Cardiomyopathy, dilated 1KK (CMD1KK)4--see VAR_0696592 P L mis40--------
    rs715789891,2
    Cuntested170257077(+) GGCCA-/TCAATT 7 T I fra1 ut51 int10--------
    rs715789901,2
    Cuntested170257249(+) CAGTAC/TTGTTC 7 Y syn1 ut51 int10--------
    rs1428670011,2
    C,Funtested170257294(+) GCTGCC/GGACTT 7 A syn1 ut51 int11Minor allele frequency- G:0.00NA 4480
    rs741430221,2
    C,Funtested170257672(+) GTTCCA/GGAAGG 7 P syn1 ut51 int13Minor allele frequency- G:0.04WA NA 3998
    rs1447649831,2
    C,Funtested170280894(+) GAAGGC/TGACCC 8 G syn12Minor allele frequency- T:0.00NA EU 5791

    HapMap Linkage Disequilibrium report for MYPN (69865912 - 69971774 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for MYPN:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2255501CNV Deletion18987734
    esv2738006CNV Deletion23290073
    esv1083515CNV Deletion17803354
    nsv895688CNV Gain21882294
    dgv766n71CNV Gain21882294
    nsv895687CNV Gain21882294
    nsv521328CNV Gain19592680
    dgv767n71CNV Gain21882294

    Human Gene Mutation Database (HGMD): MYPN
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MYPN
    DNA2.0 Custom Variant and Variant Library Synthesis for MYPN

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608517   
    OMIM disorders: 615248  
    UniProtKB/Swiss-Prot: MYPN_HUMAN, Q86TC9
  • 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. 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 5 diseases for MYPN:    
    About MalaCards
    cardiomyopathy, dilated, 1kk    cardiomyopaty, familial restrictive 4    cardiomypathy, familial hypertrophic, 22    familial restrictive cardiomyopathy
    cardiomyopathy, dilated, 1w


    Find genes that share disorders with MYPN           About GenesLikeMe

    Genetic Association Database (GAD): MYPN
    Human Genome Epidemiology (HuGE) Navigator: MYPN (2 documents)

    Export disorders for MYPN gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MYPN gene, integrated from 10 sources (see all 39):
    (articles sorted by number of sources associating them with MYPN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Interaction of nebulin SH3 domain with titin PEVK and myopalladin: implications for the signaling and assembly role of titin and nebulin. (PubMed id 12482578)1, 2, 3, 9 Ma K. and Wang K. (FEBS Lett. 2002)
    2. Myopalladin, a novel 145-kilodalton sarcomeric protein with multiple roles in Z-disc and I-band protein assemblies. (PubMed id 11309420)1, 2, 3 Bang M.-L.... Labeit S. (J. Cell Biol. 2001)
    3. Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy. (PubMed id 18006477)1, 2, 9 Duboscq-Bidot L....Villard E. (Cardiovasc. Res. 2008)
    4. Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy. (PubMed id 22892539)1, 2 Meyer T....Pankuweit S. (Eur. J. Hum. Genet. 2013)
    5. Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations. (PubMed id 22286171)1, 2 Purevjav E....Towbin J.A. (Hum. Mol. Genet. 2012)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    7. Genome-wide association identifies ATOH7 as a major gene determining human optic disc size. (PubMed id 20395239)1, 4 Macgregor S....Mackey D.A. (Hum. Mol. Genet. 2010)
    8. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (Am. J. Hum. Genet. 2006)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (Nature 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 84665 HGNC: 23246 AceView: MYPN Ensembl:ENSG00000138347 euGenes: HUgn84665
    ECgene: MYPN H-InvDB: MYPN

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for MYPN Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MYPN Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MYPN gene:
    Search GeneIP for patents involving MYPN

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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