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    DES desmin [ Homo sapiens (human) ]

    Gene ID: 1674, updated on 17-Jun-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See DES in Genome Data Viewer
    Location:
    2q35
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (219418377..219426734)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (219903171..219911530)
    105.20220307 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001382708.1NP_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:107414
      Filament; Intermediate filament protein
      pfam04732
      Location:9106
      Filament_head; Intermediate filament head (DNA binding) region
    2. NM_001382709.1NP_001369638.1  desmin isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC053503
      Conserved Domains (2) summary
      pfam00038
      Location:107247
      Filament; Intermediate filament protein
      pfam04732
      Location:9106
      Filament_head; Intermediate filament head (DNA binding) region
    3. NM_001382710.1NP_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:107392
      Filament; Intermediate filament protein
      pfam04732
      Location:9106
      Filament_head; Intermediate filament head (DNA binding) region
    4. NM_001382711.1NP_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:107408
      Filament; Intermediate filament protein
      pfam04732
      Location:9106
      Filament_head; Intermediate filament head (DNA binding) region
    5. NM_001382712.1NP_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:107415
      Filament; Intermediate filament protein
      pfam04732
      Location:9106
      Filament_head; Intermediate filament head (DNA binding) region
    6. NM_001382713.1NP_001369642.1  desmin isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC053503
      UniProtKB/TrEMBL
      L7RDA5
      Conserved Domains (2) summary
      pfam00038
      Location:107325
      Filament; Intermediate filament protein
      pfam04732
      Location:9106
      Filament_head; Intermediate filament head (DNA binding) region
    7. NM_001927.4NP_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:107415
      Filament; Intermediate filament protein
      pfam04732
      Location:9106
      Filament_head; Intermediate filament head (DNA binding) region

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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)