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DES

GENERAL INFORMATION

Gene name

 DES

Gene description

 Desmin

Protein class

 Cancer-related genes
Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 1
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Expressed in all
HPA (cell line):Group enriched (LHCN-M2, RH-30)
HPA (normal tissue):Tissue enhanced (heart muscle, skeletal muscle, smooth muscle)

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 Selective cytoplasmic expression in heart, skeletal and smooth muscle.

ANTIBODY IHC RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 2 antibodies.
HPA018803 , CAB000034
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PROGNOSTIC SUMMARY
Prognostic marker in renal cancer (unfavourable).
Renal cancer p<0.001
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Expressed in all

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Renal cancer

STAINING SUMMARY
HPA018803
CAB000034

GENE INFORMATION

Gene name

 DES (HGNC Symbol)

Synonyms

 CMD1I, CSM1, CSM2

Description

 Desmin (HGNC Symbol)

Entrez gene 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]

Chromosome

 2

Cytoband

 q35

Chromosome location (bp)

 219418377 - 219426739

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000175084 (version 83.38)

Entrez gene

 1674

UniProt

 P17661 (UniProt - Evidence at protein level)

neXtProt

 NX_P17661

Antibodypedia

 DES antibodies

PROTEIN BROWSER
DES-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
DES-001
ENSP00000363071
ENST00000373960
P17661 [Direct mapping]
Desmin
Q53SB5 [Target identity:100%; Query identity:100%]
Desmin, isoform CRA_a; Putative uncharacterized protein tmp_locus_29
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Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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GO:0005198 [structural molecule activity]
GO:0005200 [structural constituent of cytoskeleton]
GO:0005515 [protein binding]
GO:0005622 [intracellular]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005882 [intermediate filament]
GO:0005916 [fascia adherens]
GO:0006936 [muscle contraction]
GO:0007010 [cytoskeleton organization]
GO:0008016 [regulation of heart contraction]
GO:0008092 [cytoskeletal protein binding]
GO:0030018 [Z disc]
GO:0030049 [muscle filament sliding]
GO:0031594 [neuromuscular junction]
GO:0042383 [sarcolemma]
GO:0042802 [identical protein binding]
GO:0043292 [contractile fiber]
GO:0070062 [extracellular exosome]
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 470 aa
53.5 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.