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DES desmin [ Homo sapiens (human) ]

Gene ID: 1674, updated on 27-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
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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
  • 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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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 IBA
Inferred from Biological aspect of Ancestor
more info
  
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 IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
is_active_in cytoplasm 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 
is_active_in intermediate filament IBA
Inferred from Biological aspect of Ancestor
more info
  
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

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