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    MYPN myopalladin [ Homo sapiens (human) ]

    Gene ID: 84665, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MYPNprovided by HGNC
    Official Full Name
    myopalladinprovided by HGNC
    Primary source
    HGNC:HGNC:23246
    See related
    Ensembl:ENSG00000138347 MIM:608517; AllianceGenome:HGNC:23246
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MYOP; RCM4; CMH22; NEM11; CMD1DD; CMYO24; CMYP24
    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]
    Expression
    Biased expression in heart (RPKM 21.7) and prostate (RPKM 1.5) See more
    Orthologs
    mouse all
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    Genomic context

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    See MYPN in Genome Data Viewer
    Location:
    10q21.3
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (68087897..68212017)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (68956458..69080820)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (69865764..69971774)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene HECT and RLD domain containing E3 ubiquitin protein ligase 4 Neighboring gene POU class 5 homeobox 1 pseudogene 5 Neighboring gene MPRA-validated peak985 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2416 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2417 Neighboring gene uncharacterized LOC124902442 Neighboring gene uncharacterized LOC107984240 Neighboring gene RN7SK pseudogene 202 Neighboring gene Sharpr-MPRA regulatory region 5989 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16132 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16136 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16144 Neighboring gene uncharacterized LOC124902443 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16173 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16197 Neighboring gene uncharacterized LOC124902593 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2418 Neighboring gene atonal bHLH transcription factor 7

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. The palladin/myotilin/myopalladin family of actin-associated scaffolds. Otey CA, et al. Int Rev Cytol, 2005. PMID 16164966
    2. Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy. Duboscq-Bidot L, et al. Cardiovasc Res, 2008 Jan. PMID 18006477
    3. Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation. Merlini L, et al. Skelet Muscle, 2019 May 27. PMID 31133047, Free PMC Article
    4. The role of palladin in actin organization and cell motility. Goicoechea SM, et al. Eur J Cell Biol, 2008 Sep. PMID 18342394, Free PMC Article
    5. Cytoplasmic Ig-domain proteins: cytoskeletal regulators with a role in human disease. Otey CA, et al. Cell Motil Cytoskeleton, 2009 Aug. PMID 19466753, Free PMC Article

    See all (46) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A consanguineous family with congenital to adult-onset muscle weakness and hanging big toe was reported. Muscle biopsy showed minimal changes with internal nuclei, type 1 fiber predominance, and ultrastructural defects of Z line. Cardiac involvement was demonstrated by magnetic resonance imaging and late gadolinium enhancement.
      Title: Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation.
    2. Targeted sequencing revealed trigenic mutations: c.700G>A/p.E234K in DES, c.2966G>A/p.R989H in MYPN, and c.5918G>C/p.R1973P in CACNA1C in a family of hypertrophic cardiomyopathy with early repolarization and short QT syndrome.
      Title: Novel trigenic CACNA1C/DES/MYPN mutations in a family of hypertrophic cardiomyopathy with early repolarization and short QT syndrome.
    3. Homozygous truncating mutations in MYPN in 2 unrelated families with a slowly progressive congenital cap myopathy.
      Title: Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.
    4. results suggest that MYPN screening should be considered in individuals with mild nemaline myopathy, especially when cardiac problems or intranuclear rods are present
      Title: Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy.
    5. Heterozygote Mypn(WT/Q526X) knock-in mice develop RCM due to persistence of mutant Mypn(Q526X) protein in the nucleus.
      Title: Disturbance in Z-disk mechanosensitive proteins induced by a persistent mutant myopalladin causes familial restrictive cardiomyopathy.
    6. the clinical significance of myopalladin for the functional integrity of the sarcomeric apparatus and the protection against dilated cardiomyopathy
      Title: Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy.
    7. Two nonsense and 13 missense MYPN variants were identified in subjects with hypertrophic, dilated and/or restrictive cardiomyopathy.
      Title: Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations.
    8. mutations in PDLIM3 and MYPN are infrequent in hypertrophic cardiomyopathies
      Title: Analysis of the Z-disc genes PDLIM3 and MYPN in patients with hypertrophic cardiomyopathy.
    9. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    10. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Dilated cardiomyopathy 1KK
    MedGen: C3714995 OMIM: 615248 GeneReviews: Not available
    		not available
    MYPN-related myopathy
    MedGen: C4479186 OMIM: 617336 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    EBI GWAS Catalog
    Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SH3 domain binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables cell-cell adhesion mediator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cytoskeletal protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables muscle alpha-actinin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in axon guidance IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in dendrite self-avoidance IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in homophilic cell adhesion via plasma membrane adhesion molecules IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sarcomere organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in I band IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    colocalizes_with Z disc IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Z disc IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_032118.1 RefSeqGene

      Range
      5001..110901
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_410

    mRNA and Protein(s)

    1. NM_001256267.2 → NP_001243196.1  myopalladin isoform a

      See identical proteins and their annotated locations for NP_001243196.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Both variants 1 and 4 encode isoform a.
      Source sequence(s)
      AC016395, AC024258, AL512429
      Consensus CDS
      CCDS7275.1
      UniProtKB/Swiss-Prot
      Q5VV35, Q5VV36, Q86T37, Q86TC9, Q8N3L4, Q96K90, Q96KF5
      UniProtKB/TrEMBL
      A0A8J9ASZ5
      Related
      ENSP00000480757.2, ENST00000613327.5
      Conserved Domains (3) summary
      cd00096
      Location:962 → 1031
      Ig; Immunoglobulin domain
      pfam07679
      Location:269 → 355
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:1189 → 1263
      Ig; Immunoglobulin domain

    2. NM_001256268.2 → NP_001243197.1  myopalladin isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains four additional exons in the 5' region and it thus differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a.
      Source sequence(s)
      AC016395, AC024258, AL512429
      UniProtKB/TrEMBL
      A0A087WX60
      Conserved Domains (3) summary
      cd00096
      Location:668 → 737
      Ig; Immunoglobulin domain
      pfam07679
      Location:779 → 869
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:895 → 969
      Ig; Immunoglobulin domain

    3. NM_032578.4 → NP_115967.2  myopalladin isoform a

      See identical proteins and their annotated locations for NP_115967.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a). Both variants 1 and 4 encode isoform a.
      Source sequence(s)
      AC016395, AF328296, AL832002, BQ009261
      Consensus CDS
      CCDS7275.1
      UniProtKB/Swiss-Prot
      Q5VV35, Q5VV36, Q86T37, Q86TC9, Q8N3L4, Q96K90, Q96KF5
      UniProtKB/TrEMBL
      A0A8J9ASZ5
      Related
      ENSP00000351790.5, ENST00000358913.10
      Conserved Domains (3) summary
      cd00096
      Location:962 → 1031
      Ig; Immunoglobulin domain
      pfam07679
      Location:269 → 355
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:1189 → 1263
      Ig; Immunoglobulin domain

    RNA

    1. NR_045662.4 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses alternate exon structure in the 5' region, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF. Translation of the upstream ORF renders the transcript a candidate for nonsense-mediated decay (NMD).
      Source sequence(s)
      AC016395, AC024258, AL512429
      Related
      ENST00000354393.7

    2. NR_045663.4 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two alternate exons in the central region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC016395, AC024258, AL512429
      Related
      ENST00000688812.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      68087897..68212017
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425879.1 → XP_047281835.1  myopalladin isoform X3

    2. XM_017016834.3 → XP_016872323.1  myopalladin isoform X2

      UniProtKB/Swiss-Prot
      Q5VV35, Q5VV36, Q86T37, Q86TC9, Q8N3L4, Q96K90, Q96KF5
      UniProtKB/TrEMBL
      A0A8J9ASZ5
      Related
      ENSP00000441668.3, ENST00000540630.6
      Conserved Domains (3) summary
      cd00096
      Location:962 → 1031
      Ig; Immunoglobulin domain
      pfam07679
      Location:269 → 355
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:1189 → 1263
      Ig; Immunoglobulin domain

    3. XM_047425877.1 → XP_047281833.1  myopalladin isoform X3

    4. XM_047425876.1 → XP_047281832.1  myopalladin isoform X1

      UniProtKB/TrEMBL
      A0A8J9ASZ5

    5. XM_017016833.2 → XP_016872322.1  myopalladin isoform X1

      UniProtKB/TrEMBL
      A0A8J9ASZ5

    6. XM_047425878.1 → XP_047281834.1  myopalladin isoform X3

    7. XM_047425880.1 → XP_047281836.1  myopalladin isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      68956458..69080820
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366984.1 → XP_054222959.1  myopalladin isoform X3

    2. XM_054366982.1 → XP_054222957.1  myopalladin isoform X3

    3. XM_054366981.1 → XP_054222956.1  myopalladin isoform X2

      UniProtKB/TrEMBL
      A0A8J9ASZ5

    4. XM_054366980.1 → XP_054222955.1  myopalladin isoform X1

      UniProtKB/TrEMBL
      A0A8J9ASZ5

    5. XM_054366983.1 → XP_054222958.1  myopalladin isoform X3

    6. XM_054366985.1 → XP_054222960.1  myopalladin isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86TC9.2 GenPept UniProtKB/Swiss-Prot:Q86TC9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Other Literature Sources
    Chemical Information
    Molecular Biology Databases
    Research Materials
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