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DES desmin [ Homo sapiens (human) ]

Gene ID: 1674, updated on 10-Apr-2021

Summary

Official Symbol
DESprovided by HGNC
Official Full Name
desminprovided by HGNC
Primary source
HGNC:HGNC:2770
See related
Ensembl:ENSG00000175084 MIM:125660
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

See DES in Genome Data Viewer
Location:
2q35
Exon count:
9
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (219418377..219426734)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (220283099..220291456)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373883 Neighboring gene aspartyl aminopeptidase Neighboring gene uncharacterized LOC105373884 Neighboring gene desmin locus control region Neighboring gene VISTA enhancer hs2169 Neighboring gene striated muscle enriched protein kinase Neighboring gene ASIC4 antisense RNA 1

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

Homology

Clone Names

  • FLJ12025, FLJ39719, FLJ41013, FLJ41793

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cytoskeletal protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cytoskeleton organization TAS
Traceable Author Statement
more info
PubMed 
intermediate filament organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
muscle contraction TAS
Traceable Author Statement
more info
PubMed 
muscle filament sliding TAS
Traceable Author Statement
more info
 
regulation of heart contraction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Z disc IDA
Inferred from Direct Assay
more info
PubMed 
cardiac myofibril IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
fascia adherens IEA
Inferred from Electronic Annotation
more info
 
intercalated disc IDA
Inferred from Direct Assay
more info
PubMed 
intermediate filament IEA
Inferred from Electronic Annotation
more info
 
intermediate filament cytoskeleton IDA
Inferred from Direct Assay
more info
 
neuromuscular junction IEA
Inferred from Electronic Annotation
more info
 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
sarcolemma IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
desmin
Names
cardiomyopathy, dilated 1F (autosomal dominant)
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_001382708.1NP_001369637.1  desmin isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC053503
  2. NM_001382709.1NP_001369638.1  desmin isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC053503
  3. NM_001382710.1NP_001369639.1  desmin isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC053503
  4. NM_001382711.1NP_001369640.1  desmin isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC053503
  5. NM_001382712.1NP_001369641.1  desmin isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC053503
  6. NM_001382713.1NP_001369642.1  desmin isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC053503
  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
    UniProtKB/TrEMBL
    Q53SB5
    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: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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