DES

GENERAL INFORMATION

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Gene name

DES

Gene description

Desmin

Protein class

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

Predicted localization

Intracellular

Number of transcripts

1
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Selective cytoplasmic expression in heart, skeletal and smooth muscle.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA018803 , CAB000034
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Smooth muscle

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

1674

UniProt

P17661 (UniProt - Evidence at protein level)

neXtProt

NX_P17661

Antibodypedia

DES antibodies


PROTEIN BROWSER

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ENST00000373960
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DES-001 ENSP00000363071
ENST00000373960
P17661
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