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    DES desmin [ Homo sapiens (human) ]

    Gene ID: 1674, updated on 3-Nov-2024

    Summary

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    Official Symbol
    DESprovided by HGNC
    Official Full Name
    desminprovided by HGNC
    Primary source
    HGNC:HGNC:2770
    See related
    Ensembl:ENSG00000175084 MIM:125660; AllianceGenome:HGNC:2770
    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
    CSM1; CSM2; CDCD3; LGMD1D; LGMD1E; LGMD2R
    Summary
    This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [provided by RefSeq, Jul 2008]
    Annotation information
    Note: We recognize that OMIM uses LGMD1D to refer to the locus on chromosome 6. There are many citations, however, including PubMed 8533766, 15316618, 20682716, and 21376592 which define LGMD1D as the locus on chromosome 7. We are retaining the usage of the HUGO Gene Nomenclature Committee (HGNC). [24 Jul 2017]
    Expression
    Biased expression in heart (RPKM 2605.8), esophagus (RPKM 953.7) and 6 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DES in Genome Data Viewer
    Location:
    2q35
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (219418377..219426734)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (219903171..219911530)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (220283099..220291456)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17151 Neighboring gene uncharacterized LOC105373883 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220251315-220252161 Neighboring gene aspartyl aminopeptidase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12354 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12355 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12356 Neighboring gene DNPEP antisense RNA 1 Neighboring gene desmin locus control region Neighboring gene VISTA enhancer hs2169 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220313846-220314453 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220315912-220316716 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:220317062-220318261 Neighboring gene striated muscle enriched protein kinase Neighboring gene ReSE screen-validated silencer GRCh37_chr2:220325404-220325584 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220329861-220330528 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220330529-220331194 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220331442-220331984 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220339972-220340679 Neighboring gene Sharpr-MPRA regulatory region 8597 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220341387-220342094 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220348981-220349782 Neighboring gene ASIC4 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 15624 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220361035-220361852 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220361853-220362670 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220362671-220363488 Neighboring gene SPEG neighbor

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Immunoadsorption and subsequent immunoglobulin substitution decreases myocardial gene expression of desmin in dilated cardiomyopathy. Kallwellis-Opara A, et al. J Mol Med (Berl), 2007 Dec. PMID 17924085
    2. Phenotypic Patterns of Cardiomyopathy Caused by Mutations in the Desmin Gene. A Clinical and Genetic Study in Two Inherited Heart Disease Units. Ripoll-Vera T, et al. Rev Esp Cardiol (Engl Ed), 2015 Nov. PMID 26431784
    3. Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy. Levin J, et al. J Neuropathol Exp Neurol, 2010 Apr. PMID 20448486
    4. Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks. Otten E, et al. Heart Rhythm, 2010 Aug. PMID 20423733
    5. Mutations in desmin's carboxy-terminal "tail" domain severely modify filament and network mechanics. Bär H, et al. J Mol Biol, 2010 Apr 16. PMID 20171226

    See all (201) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Skeletal muscle desmin alterations following revascularization in peripheral artery disease claudicants.
      Title: Skeletal muscle desmin alterations following revascularization in peripheral artery disease claudicants.
    2. Unraveling Desmin's Head Domain Structure and Function.
      Title: Unraveling Desmin's Head Domain Structure and Function.
    3. Desmin and Plectin Recruitment to the Nucleus and Nuclei Orientation Are Lost in Emery-Dreifuss Muscular Dystrophy Myoblasts Subjected to Mechanical Stimulation.
      Title: Desmin and Plectin Recruitment to the Nucleus and Nuclei Orientation Are Lost in Emery-Dreifuss Muscular Dystrophy Myoblasts Subjected to Mechanical Stimulation.
    4. Critical contribution of mitochondria in the development of cardiomyopathy linked to desmin mutation.
      Title: Critical contribution of mitochondria in the development of cardiomyopathy linked to desmin mutation.
    5. Desmin and its molecular chaperone, the alphaB-crystallin: How post-translational modifications modulate their functions in heart and skeletal muscles?
      Title: Desmin and its molecular chaperone, the αB-crystallin: How post-translational modifications modulate their functions in heart and skeletal muscles?
    6. A Severe Form of Familial Desminopathy Due to a Homozygous Nonsense DES Variant in Two Siblings.
      Title: A Severe Form of Familial Desminopathy Due to a Homozygous Nonsense DES Variant in Two Siblings.
    7. Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function.
      Title: Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function.
    8. The N-Terminal Part of the 1A Domain of Desmin Is a Hot Spot Region for Putative Pathogenic DES Mutations Affecting Filament Assembly.
      Title: The N-Terminal Part of the 1A Domain of Desmin Is a Hot Spot Region for Putative Pathogenic DES Mutations Affecting Filament Assembly.
    9. The gene variant for desmin rs1058261 may protect against combined cancer and cardiovascular death, the Tampere adult population cardiovascular risk study.
      Title: The gene variant for desmin rs1058261 may protect against combined cancer and cardiovascular death, the Tampere adult population cardiovascular risk study.
    10. New roles for desmin in the maintenance of muscle homeostasis.
      Title: New roles for desmin in the maintenance of muscle homeostasis.
    Submit: New GeneRIF Correction See all GeneRIFs (114)

    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
    Desmin-related myofibrillar myopathy
    MedGen: C1832370 OMIM: 601419 GeneReviews: Dilated Cardiomyopathy Overview
    		not available
    Dilated cardiomyopathy 1I
    MedGen: C1858154 OMIM: 604765 GeneReviews: Dilated Cardiomyopathy Overview
    		not available
    Neurogenic scapuloperoneal syndrome, Kaeser type
    MedGen: C1867005 OMIM: 181400 GeneReviews: Not available
    		not available
    Primary dilated cardiomyopathy
    MedGen: C0007193 GeneReviews: Dilated Cardiomyopathy Overview
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol HIV-1 protease cleaves the intermediate filament proteins vimentin, desmin, and glial fibrillary acidic protein in vitro PubMed

    Go to the HIV-1, Human Interaction Database

    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

    Clone Names

    • FLJ12025, FLJ39719, FLJ41013, FLJ41793

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytoskeletal protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of cytoskeleton TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cytoskeleton organization TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in intermediate filament organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in muscle contraction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in nuclear envelope organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of heart contraction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in skeletal muscle organ development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Z disc IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Z disc IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cardiac myofibril IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cell tip ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in cell-cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in fascia adherens IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in intercalated disc IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in intermediate filament IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in intermediate filament cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		  
    located_in neuromuscular junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nuclear envelope ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in sarcolemma IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in sarcolemma IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    desmin
    Names
    cardiomyopathy, dilated 1F (autosomal dominant)
    cardiomyopathy, dilated 1I
    epididymis secretory sperm binding protein
    intermediate filament protein

    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_008043.1 RefSeqGene

      Range
      5001..13363
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_380

    mRNA and Protein(s)

    1. NM_001382708.1 → NP_001369637.1  desmin isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC053503
      UniProtKB/TrEMBL
      A0A384NPX1, A5Z217, L7RDA5, Q45VM6, Q45VM7, Q45VM8, Q9H319
      Conserved Domains (2) summary
      pfam00038
      Location:107 → 414
      Filament; Intermediate filament protein
      pfam04732
      Location:9 → 106
      Filament_head; Intermediate filament head (DNA binding) region

    2. NM_001382709.1 → NP_001369638.1  desmin isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC053503
      Conserved Domains (2) summary
      pfam00038
      Location:107 → 247
      Filament; Intermediate filament protein
      pfam04732
      Location:9 → 106
      Filament_head; Intermediate filament head (DNA binding) region

    3. NM_001382710.1 → NP_001369639.1  desmin isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC053503
      UniProtKB/TrEMBL
      A0A384NPX1, A5Z217, L7RDA5, Q45VM6, Q45VM7, Q45VM8, Q9H319
      Conserved Domains (2) summary
      pfam00038
      Location:107 → 392
      Filament; Intermediate filament protein
      pfam04732
      Location:9 → 106
      Filament_head; Intermediate filament head (DNA binding) region

    4. NM_001382711.1 → NP_001369640.1  desmin isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC053503
      UniProtKB/TrEMBL
      A0A384NPX1, A5Z217, L7RDA5, Q45VM6, Q45VM7, Q45VM8, Q9H319
      Conserved Domains (2) summary
      pfam00038
      Location:107 → 408
      Filament; Intermediate filament protein
      pfam04732
      Location:9 → 106
      Filament_head; Intermediate filament head (DNA binding) region

    5. NM_001382712.1 → NP_001369641.1  desmin isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC053503
      UniProtKB/TrEMBL
      A0A384NPX1, A5Z217, L7RDA5, Q45VM6, Q45VM7, Q45VM8, Q9H319
      Conserved Domains (2) summary
      pfam00038
      Location:107 → 415
      Filament; Intermediate filament protein
      pfam04732
      Location:9 → 106
      Filament_head; Intermediate filament head (DNA binding) region

    6. NM_001382713.1 → NP_001369642.1  desmin isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC053503
      UniProtKB/TrEMBL
      L7RDA5
      Conserved Domains (2) summary
      pfam00038
      Location:107 → 325
      Filament; Intermediate filament protein
      pfam04732
      Location:9 → 106
      Filament_head; Intermediate filament head (DNA binding) region

    7. NM_001927.4 → NP_001918.3  desmin isoform 1

      See identical proteins and their annotated locations for NP_001918.3

      Status: REVIEWED

      Source sequence(s)
      AL541778, BC010072, BC032116, BQ941246
      Consensus CDS
      CCDS33383.1
      UniProtKB/Swiss-Prot
      P17661, Q15787, Q549R7, Q549R8, Q549R9, Q8IZR1, Q8IZR6, Q8NES2, Q8NEU6, Q8TAC4, Q8TCX2, Q8TD99, Q9UHN5, Q9UJ80
      UniProtKB/TrEMBL
      A0A024R450, A0A384NPX1, A5Z217, L7RDA5, Q45VM6, Q45VM7, Q45VM8, Q53SB5, Q9H319
      Related
      ENSP00000363071.3, ENST00000373960.4
      Conserved Domains (2) summary
      pfam00038
      Location:107 → 415
      Filament; Intermediate filament protein
      pfam04732
      Location:9 → 106
      Filament_head; Intermediate filament head (DNA binding) region

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      219418377..219426734
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      219903171..219911530
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P17661.3 GenPept UniProtKB/Swiss-Prot:P17661

    Gene LinkOut

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

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