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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

DES Gene

protein-coding GIFtS: 70
GCID: GC02P220283

desmin

Explore 241 diseases affiliated with
DES via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Desmin¹
CSM1¹ ²
CSM2¹ ²
CMD1I¹ ⁵
Intermediate Filament Protein²

External Ids:	HGNC: 2770¹	Entrez Gene: 1674²	Ensembl: ENSG00000175084⁷	OMIM: 125660⁵	UniProtKB: P17661³

Export aliases for DES gene to outside databases

Previous GC identifers: GC02P218305 GC02P219004 GC02P220247 GC02P220485 GC02P220109 GC02P219991 GC02P212136

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DES:

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)

UniProtKB/Swiss-Prot: DESM_HUMAN, P17661

Function: Desmin are class-III intermediate filaments found in muscle cells. In adult striated muscle they form a

fibrous network connecting myofibrils to each other and to the plasma membrane from the periphery of the Z-line

structures

Gene Wiki entry for DES (Desmin)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_005403.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the DES gene promoter:
TBP p53 AP-1 FOXO1a MyoD FOXO1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): DES promoter sequence

Search SABiosciences Chromatin IP Primers for DES

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DES

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q35 Ensembl cytogenetic band: 2q35 HGNC cytogenetic band: 2q35

DES Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DES gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02P220283: view genomic region (about GC identifiers)

Start:	220,283,099 bp from pter	End:	220,291,461 bp from pter
Size:	8,363 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DESM_HUMAN, P17661 (See protein sequence)

Recommended Name: Desmin

Size: 470 amino acids; 53536 Da

Subunit: Homopolymer. Interacts with DST (By similarity). Interacts with MTM1

Subcellular location: Cytoplasm

Secondary accessions: Q15787 Q549R7 Q549R8 Q549R9 Q8IZR1 Q8IZR6 Q8NES2 Q8NEU6 Q8TAC4 Q8TCX2 Q8TD99

Q9UHN5 Q9UJ80

Explore the universe of human proteins at neXtProt for DES: NX_P17661

Post-translational modifications:

ADP-ribosylation prevents ability to form intermediate filaments (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P17661

DES Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001918.3

ENSEMBL proteins:

ENSP00000363071

Reactome Protein details: P17661
Human Recombinant Protein Products for DES:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: DES OriGene Protein Over-expression Lysate: DES OriGene Custom Protein Services for DES
	GenScript Custom Purified and Recombinant Proteins Services for DES
	Novus Biologicals DES Protein Novus Biologicals DES Lysate
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for DES
	Browse Proteins at Uscn

Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	--	--
GO:0005626	insoluble fraction	--	--
GO:0005829	cytosol	TAS	--
GO:0005856	cytoskeleton	--	--
GO:0005882	intermediate filament	IEA	--

DES for ontologies About GeneDecksing

DES Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of DES
	R&D Systems Antibodies for DES (Desmin)
	Cell Signaling Technology (CST) Antibodies for DES (desmin)
	OriGene Antibodies (see all 3): DES OriGene Custom Antibody Services for DES
	GenScript Superior Antibodies for DES
	Novus Biologicals DES Antibodies
	Abcam antibodies for DES
	Browse Antibodies at Uscn
	ThermoFisher Antibody for DES

Assay Products for DES:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for DES
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

DES for domains About GeneDecksing

4 InterPro domains/families:

IPR001664 IF

IPR006821 Intermed_filament_DNA-bd

IPR016044 F

IPR018039 Intermediate_filament_CS

Graphical View of Domain Structure for InterPro Entry P17661

ProtoNet protein and cluster: P17661

1 Blocks protein family: IPB001664 Intermediate filament protein

UniProtKB/Swiss-Prot: DESM_HUMAN, P17661

Similarity: Belongs to the intermediate filament family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: DESM_HUMAN, P17661

Function: Desmin are class-III intermediate filaments found in muscle cells. In adult striated muscle they form a

fibrous network connecting myofibrils to each other and to the plasma membrane from the periphery of the Z-line

structures

Genatlas biochemistry entry for DES:

desmin,53kDa,found in smooth,cardiac and skeletal muscle,intermediate filament superfamily

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005200	structural constituent of cytoskeleton	TAS	9736733
GO:0005515	protein binding	IPI	--
GO:0008092	cytoskeletal protein binding	IPI	11309420

DES for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for DES:

Decreased Wnt reporter activit

Synthetic lethal with Ras

5 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Des):

behavior/neurological

cardiovascular system

homeostasis/metabolism

mortality/aging

muscle

DES for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Des^tm1Cap for DES

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for DES

miRNA Products:		OriGene 3'-UTR Clone: DES Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DES
		8 QIAGEN miScript miRNA Assays for microRNAs that regulate DES:
		hsa-miR-4324 hsa-miR-370 hsa-miR-642a hsa-miR-532-3p hsa-miR-3065-3p hsa-miR-766 hsa-miR-1976 hsa-miR-338-3p

		SwitchGear 3'UTR luciferase reporter plasmid: DES 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DES (see all 7) OriGene shRNA RFP: DES OriGene siRNA: DES
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DES
		Sirion Biotech Custom design and validation of potent shRNA sequences against DES

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for DES
			Sirion Biotech Customized adenovirus for overexpression of DES Sirion Biotech Customized adenovirus for potent knockdown of DES

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DES (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DES OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: DES (NM_001927)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for DES
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DES

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for DES
		Search LifeMap BioReagents cell lines for DES
		Sirion Biotech Customized stable knockdown cell line services for DES Sirion Biotech Customized inducible knockdown cell line services for DES Sirion Biotech Customized stable overexpressing cell line services for DES Sirion Biotech Customized inducible overexpressing cell line services for DES

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DES

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Striated Muscle Contraction

	Striated Muscle Contraction	1.00			Muscle contraction	0.65
	Striated Muscle Contraction	0.87

Cytoskeleton remodeling Neurofilaments

Cytoskeleton remodeling Neurofilaments

1.00

Cytoskeleton remodeling_Neurofilaments

0.91

Arrhythmogenic right ventricular cardiomyopathy (ARVC)

Arrhythmogenic right ventricular cardiomyopathy (ARVC)

1.00

Arrhythmogenic right ventricular cardiomyopathy

0.99

Hypertrophic cardiomyopathy (HCM)

Hypertrophic cardiomyopathy (HCM)

1.00

Dilated cardiomyopathy

0.75

Cytoskeletal Signaling

Cytoskeletal Signaling

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for DES

Cytoskeleton remodeling Neurofilaments

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for DES

Rho Family GTPases

1 Cell Signaling Technology (CST) Pathway for DES

Cytoskeletal Signaling

1 GeneGo (Thomson Reuters) Pathway for DES

Cytoskeleton remodeling Neurofilaments

3 BioSystems Pathways for DES

	Arrhythmogenic right ventricular cardiomyopathy
	Striated Muscle Contraction
	Aurora B signaling

2 Reactome Pathways for DES

	Muscle contraction
	Striated Muscle Contraction

3 Kegg Pathways (Kegg details for DES):

	Hypertrophic cardiomyopathy (HCM)
	Arrhythmogenic right ventricular cardiomyopathy (ARVC)
	Dilated cardiomyopathy

DES for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for DES

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/122 Interacting proteins for DES (P17661^{1, 2, 3} ENSP00000363071⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 122)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TRIM63	Q969Q1²^,³, ENSP00000363390⁴	MINT-6503570 MINT-6503390 I2D: score=1 STRING: ENSP00000363390
MLH1	P40692¹^,³	EBI-1055572,EBI-744248 I2D: score=1
SMURF2	Q9HAU4²^,³, ENSP00000262435⁴	MINT-6503910 MINT-6503730 I2D: score=1 STRING: ENSP00000262435
YWHAQ	P27348²^,³, ENSP00000238081⁴	MINT-7899812 I2D: score=1 STRING: ENSP00000238081
CAPN1	P07384³, ENSP00000279247⁴	I2D: score=3 STRING: ENSP00000279247

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006936	muscle contraction	TAS	9697706
GO:0007010	cytoskeleton organization	TAS	9736733
GO:0008016	regulation of heart contraction	TAS	9697706
GO:0030049	muscle filament sliding	TAS	--

DES for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

DES for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for DES
10/83 Novoseek chemical compound relationships for DES gene (see all 83) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
paraffin	59.4	29	9062704 (1), 8050903 (1), 11688464 (1), 17121196 (1) (see all 29)
progesterone	57.4	88	19227277 (2), 19781188 (2), 9062704 (1), 9308729 (1) (see all 84)
hematoxylin	55.4	11	7512798 (1), 12928636 (1), 16949932 (1), 19252433 (1) (see all 11)
estrogen	52.8	95	12090595 (2), 12004356 (2), 19781188 (2), 8980365 (1) (see all 89)
ethylene glycol bis(succinimidyl succinate)	46.4	1	1606966 (1)
reticulin	46.1	3	11858401 (1), 15363323 (1), 8629902 (1)
s 100	43.4	2	11253120 (1), 16859566 (1)
dermatan sulfate	37.4	20	8533121 (2), 8873586 (2), 9626917 (2), 9100165 (2) (see all 14)
orcein	37.1	2	16796160 (1), 15363323 (1)
glycogen	36.2	4	8281497 (1), 2162615 (1), 18691923 (1), 19820381 (1)

Search CenterWatch for drugs/clinical trials and news about DES / DESM

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for DES gene:

NM_001927.3

Unigene Cluster for DES:

Desmin

Hs.594952 [show with all ESTs]

Unigene Representative Sequence: AK022087

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000373960(uc002vll.3) ENST00000477226 ENST00000492726 ENST00000483395

miRNA Products:		OriGene 3'-UTR Clone: DES Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DES
		8 QIAGEN miScript miRNA Assays for microRNAs that regulate DES:
		hsa-miR-4324 hsa-miR-370 hsa-miR-642a hsa-miR-532-3p hsa-miR-3065-3p hsa-miR-766 hsa-miR-1976 hsa-miR-338-3p

		SwitchGear 3'UTR luciferase reporter plasmid: DES 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DES (see all 7) OriGene shRNA RFP: DES OriGene siRNA: DES
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DES
		Sirion Biotech Custom design and validation of potent shRNA sequences against DES

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DES (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DES OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: DES (NM_001927)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for DES
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DES

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DES Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat DES
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DES
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DES

Additional cDNA sequence:

AF055081.1 AF055082.1 AF055083.1 AF137053.1 AF167579.1 AF486807.1 AF487828.1 AF521879.1

AF527578.1 AK022087.1 AK097038.1 AK098332.1 AK123787.1 AK300654.1 AY083345.1 AY125465.1

BC010072.2 BC032116.2 DQ104335.1 DQ104336.1 DQ104337.1 EF617312.1 U59167.1

24/52 DOTS entries (see all 52):

DT.102835624 DT.92443837 DT.100780678 DT.95368501 DT.100780681 DT.100044594 DT.95128451 DT.100043038

DT.100780680 DT.100780676 DT.95368662 DT.120985112 DT.120985160 DT.120985174 DT.40123795 DT.120985091

DT.120985110 DT.120985159 DT.92443830 DT.95345359 DT.100780683 DT.120985129 DT.120985119 DT.120985156

24/667 AceView cDNA sequences (see all 667):

F36207 F30002 BQ951374 F30266 F15520 AK097038 F24630 BM679733

AI202332 BP379978 AI675808 BM728119 F21523 AL047179 AA363115 C05549

BM680675 AJ706792 CB156933 CA391414 BP373183 AU076415 CF552039 F29143

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for DES About this scheme

ExUns:	1	^	2a	·	2b	·	2c	^	3a	·	3b	^	4	^	5	^	6a	·	6b	^	7a	·	7b	^	8	^	9	^	10
SP1:									-
SP2:							-		-
SP3:
SP4:									-

ECgene alternative splicing isoforms for DES

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

DES expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCCCGGCCAC

About this image

DES expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/74 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 74)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Myocardium

Skeletal Muscle

Multinuclear Myocytes

Skeletal Muscle

Mandibular Arch Muscles

Mononuclear Myocytes

Skeletal Muscle

Mandibular Arch Muscles

Multinuclear Myocytes

Skeletal Muscle

Lateral Plate Mesoderm

Pericytes

Developing Peritubular Myoid Cells

Reproductive System

Pericytes

Myocardium

Forelimb Dorsal Muscles

Mononuclear Myocytes

Skeletal Muscle

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 8 LifeMap Cells

Name

Category

PureStem™ progenitor EN13 (Embryonic Progenitor Cell)

PureStem™ progenitor EN7 (Embryonic Progenitor Cell)

Lateral plate mesoderm-derived smooth muscle cells (Generation of human ...)

Paraxial mesoderm-derived smooth muscle cells (Generation of human ...)

Cardiomyocyte-like cells (Spontaneous differen...)

Neuroectoderm-like cells (Motor neuron differe...)

Skeletal myocytes (Generation of skelet...)

Neural rosettes (Motor neuron differe...)

See DES Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DES

SOURCE GeneReport for Unigene cluster: Hs.594952

SABiosciences Expression via Pathway-Focused PCR Arrays including DES:

Embryonic Stem Cells in human mouse rat

Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DES Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat DES
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DES
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DES

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DES

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for DES gene from 5/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	DES⁶	Uncharacterized protein	81(a)	1 ↔ 1	7(23731369-23733891)
lizard (Anolis carolinensis)	Reptilia	-- DES⁶	--	87(a)	possible ortholog 1 ↔ 1	AAWZ02039762(4434-6932) 1(95399521-95413584)
African clawed frog (Xenopus laevis)	Amphibia	des-prov²	desmin	77.2(n)		BC046651.1
zebrafish (Danio rerio)	Actinopterygii	desm²	desmin	79.48(n)		30148 NM_130963.1
worm (Caenorhabditis elegans)	Secernentea	ifp-1⁶ ifc-2⁶ (see all 12)	Intermediate filament protein ifc-2 (see all 12)	8(a) 7(a) (see all 12)	possible ortholog possible ortholog (see all 12)	X(9675786-9680111) X(642160-654902)

ENSEMBL Gene Tree for DES (if available)
TreeFam Gene Tree for DES (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for DES gene

LMNB1² SYNM² VIM² INA² LMNA² NES² PRPH² NEFM²

LMNB2² NEFH² GFAP²

18/64 SIMAP similar genes for DES using alignment to 6 protein entries: DESM_HUMAN (see all proteins) (see all similar genes):

tmp_locus_29 VIM PRPH KRTHB6 LMNB1 DKFZp761K0922

GFAP NEFL KRT79 LMNB2 NES NEFM

KRT4 SYNM KRT80 INA KRT1B KRT3

DES for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs1318299^1,2	C,F,A,H	non-pathogenic	220283259(+)	`TTCCCG/ACTCGG`	2	/P	syn¹ ese³		9		NA WA EA EU	687
rs2017800^1,2	C,F,A,H	non-pathogenic	220283277(+)	`CTGAGC/TTCGCC`	2	S	syn¹ ese³		9		NA CSA WA EA EU	573
rs75882680^1,2	C,F	non-pathogenic	224581511(+)	`CGCATT/CGACCT`	2	/I	syn¹		2		WA NA	4668
rs121913002^1,2	C	pathogenic	224576062(+)	`ACCATC/G/TGAGAC`	3	I M	mis¹ syn¹		1		NA	4508
rs121913005^1,2	C	pathogenic	224576090(+)	`CCATAC/TCAAGA`	2	T I	mis¹		0	--	--	--	--
rs121913003^1,2	C	pathogenic	224580259(+)	`CCTACC/TGGAAG`	2	R W	mis¹		0	--	--	--	--
rs121913001^1,2	C	pathogenic	224580297(+)	`GCTCAA/TCGTGA`	2	N I	mis¹		0	--	--	--	--
rs121913004^1,2	C	pathogenic	224580309(+)	`GTACCA/CGGACC`	2	Q P	mis¹		0	--	--	--	--
rs57955682^1,2	C	pathogenic	224580321(+)	`CCATCC/TGCGCG`	2	P L	mis¹		0	--	--	--	--
rs58687088^1,2	C	pathogenic	224580379(+)	`AGGAC-/AACATTGC`	1	--	cds¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for DES (220283099 - 220291461 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for DES
1 CNV: 0030
Human Gene Mutation Database (HGMD): DES

Locus Specific Mutation Databases (LSDB): DES

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DES

DNA2.0 Custom Variant and Variant Library Synthesis for DES

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

DES for disorders           About GeneDecksing

OMIM gene information: 125660
OMIM disorders: 601419  604765  181400
UniProtKB/Swiss-Prot: DESM_HUMAN, P17661

Defects in DES are the cause of myopathy myofibrillar type 1 (MFM1) [MIM:601419]. A neuromuscular disorder

characterized by skeletal muscle weakness associated with cardiac conduction blocks, arrhythmias, restrictive heart

failure, and by myofibrillar destruction with intracytoplasmic accumulation of desmin-reactive deposits in cardiac and

skeletal muscle cells. Note=Mutations in the DES gene are associated with a variable clinical phenotype which

encompasses isolated myopathies, pure cardiac phenotypes (including dilated cardiomyopathy, restrictive cardiomyopathy

and arrhythmogenic right ventricular cardiomyopathy), cardiac conduction disease, and combinations of these disorders.

If both cardiologic and neurologic features occur, they can manifest in any order, as cardiologic features can

precede, occur simultaneously with, or follow manifestation of generalized neuromuscular disease (PubMed:19879535)

Defects in DES are the cause of cardiomyopathy dilated type 1I (CMD1I) [MIM:604765]. Dilated cardiomyopathy is

a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure

and arrhythmia. Patients are at risk of premature death

Defects in DES are the cause of neurogenic scapuloperoneal syndrome Kaeser type (Kaeser syndrome)

[MIM:181400]. Kaeser syndrome is an autosomal dominant disorder with a peculiar scapuloperoneal distribution of

weakness and atrophy. A large clinical variability is observed ranging from scapuloperoneal, limb grindle and distal

phenotypes with variable cardiac or respiratory involvement. Facial weakness, dysphagia and gynaecomastia are frequent

additional symptoms. Affected men seemingly bear a higher risk of sudden, cardiac death as compared to affected women.

Histological and immunohistochemical examination of muscle biopsy specimens reveal a wide spectrum of findings ranging

from near normal or unspecific pathology to typical, myofibrillar changes with accumulation of desmin

20/241 diseases for DES (see all 241): About MalaCards

myopathy, desmin-related, cardioskeletal scapuloperoneal syndrome, neurogenic, kaeser type myopathy desmoplastic small round cell tumor

spheroid body myopathy emery-dreifuss muscular dystrophy infantile myofibromatosis mixed epithelial stromal tumour

atypical teratoid rhabdoid tumor fibrous histiocytoma infantile digital fibromatosis inclusion body myopathy

malignant peripheral nerve sheath tumor malignant giant cell tumor of soft parts dermatofibrosarcoma protuberans alveolar soft part sarcoma

cytoplasmic body myopathy malignant fibrous histiocytoma sertoli-leydig cell tumor giant cell tumor

20/36 diseases from the University of Copenhagen DISEASES database for DES (see all 36):

Leiomyosarcoma Rhabdomyosarcoma Leiomyoma Sarcoma

Mesenchymal cell neoplasm Malignant fibroxanthoma Myopathy Vascular cancer

Myofibroma Hemangiopericytoma Angiomyolipoma Carcinosarcoma

Endometrial stromal sarcoma Fibrosarcoma Carcinoma Fibrous histiocytoma

Gastrointestinal stromal tumor Alveolar soft part sarcoma Germ cell cancer Neurilemmoma

10/95 Novoseek disease relationships for DES gene (see all 95) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
leiomyosarcoma	88.5	53	8933907 (3), 14576480 (2), 2174404 (2), 11759055 (2) (see all 45)
desmin-related myopathy	87.2	27	9697706 (3), 11668632 (2), 10417796 (2), 11001821 (2) (see all 17)
myofibroblastoma	87.1	11	8980367 (2), 10235504 (1), 9805854 (1), 11889594 (1) (see all 10)
stromal tumors	86.9	15	11914617 (3), 2159271 (1), 16550975 (1), 1783095 (1) (see all 9)
rhabdomyosarcoma	86.3	61	16010486 (2), 1669003 (2), 2119961 (2), 10877277 (2) (see all 49)
gastrointestinal stromal tumor	85.6	7	18359707 (2), 11598621 (1), 20495760 (1), 15232741 (1) (see all 6)
leiomyoma	85.1	51	8933907 (3), 11914617 (2), 12193211 (2), 8980367 (1) (see all 41)
smooth muscle tumor	84.7	15	11914617 (2), 12090595 (1), 19722741 (1), 1710946 (1) (see all 11)
rhabdomyosarcoma embryonal	82.1	10	8042414 (2), 16010486 (1), 18656317 (1), 8685098 (1) (see all 9)
tumors	80.8	767	18359707 (4), 1783095 (3), 1712542 (3), 15232741 (3) (see all 99)

Genatlas disease: DES

desmin-related myopathy characterized by muscle weakness,associated with cardiac dilated cardiomyopathy,conduction

blocks,arrhythmias restrictive heart failure,intestinal malabsorption and pseudoobstruction,desmin-reactive deposits

in cardiac and skeletal muscle cells

GeneTests: DES

Dilated Cardiomyopathy

Myofibrillar Myopathy

Genetic Association Database (GAD): DES
Human Genome Epidemiology (HuGE) Navigator: DES (235 documents)

Export disorders for DES gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for DES gene, integrated from 9 sources (see all 1683):
(articles sorted by number of sources associating them with DES)

Utopia: connect your pdf to the dynamic
world of online information

A dysfunctional desmin mutation in a patient with severe generalized myopathy. (PubMed id 9736733)^{1, 2, 3, 9} Munoz-Marmol A.M.... Fuchs E. (1998)
Human desmin-coding gene: complete nucleotide sequence, characterization and regulation of expression during myogenesis and development. (PubMed id 2673923)^{1, 2, 3} Li Z.... Paulin D. (1989)
Functional significance of the specific sites phosphorylated in desmin at cleavage furrow: Aurora-B may phosphorylate and regulate type III intermediate filaments during cytokinesis coordinatedly with Rho-kinase. (PubMed id 12686604)^{1, 2, 9} Kawajiri A....Inagaki M. (2003)
A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates. (PubMed id 11061256)^{1, 2, 9} Sugawara M.... Toyoshima I. (2000)
Severe cardiac phenotype with right ventricular predo minance in a large cohort of patients with a single missense mutation in the DE S gene. (PubMed id 19879535)^{1, 2, 9} van Tintelen J.P....van den Berg M.P. (2009)
Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy. (PubMed id 14648196)^{1, 2, 9} Kaminska A.... Goldfarb L.G. (2004)
Missense mutations in desmin associated with familial cardiac and skeletal myopathy. (PubMed id 9697706)^{1, 2, 9} Goldfarb L.G....Dalakas M.C. (1998)
Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family. (PubMed id 18061454)^{1, 2, 9} Pica E.C....Yee W.C. (2008)
Structural and functional analysis of a new desmin variant causing desmin-related myopathy. (PubMed id 11668632)^{1, 2, 9} Goudeau B.... Vicart P. (2001)
A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation. (PubMed id 10545598)^{1, 2, 9} Sjoeberg G.... Sejersen T. (1999)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 1674	HGNC: 2770	AceView: DES	Ensembl:ENSG00000175084	euGenes: HUgn1674
ECgene: DES	Kegg: 1674	H-InvDB: DES

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for DES	Pharmacogenomics, SNPs, Pathways
Human Intermediate Filament Mutation Database	http://www.interfil.org
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DES
Wikipedia	http://en.wikipedia.org/wiki/Desmin

Intellectual Property for DES gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for DES gene:
Search GeneIP for patents involving DES

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section

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desmin

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Carcinoma Spindle Cell
Thecoma
MYOPATHY, CONGENITAL
Lymphangiomyomatosis
GASTRIC TUMOR
Cardiomyopathy Restrictive
INCLUSION BODY MYOPATHY
Liposarcoma Dedifferentiated
Hemangiopericytoma
pediatric neoplasm
Polyps
Distal Myopathies
malignant fibrous histiocytoma
Sarcoma Alveolar Soft Part
Metaplasia
Lymphangioleiomyomatosis
Leiomyosarcoma Epithelioid
Rhabdomyoma
Central Core Disease
primary tumor
FASCIITIS NODULAR
pancreatic fibrosis
Neuromuscular Diseases
Rhabdomyosarcoma
Rhabdomyosarcoma Embryonal
DESMIN-RELATED MYOPATHY
Cardiomyopathy
Carcinosarcoma
SPHEROID BODY MYOPATHY
Fibroma
Leiomyoma
Myxoma
Smooth Muscle Tumor
Hamartoma
Uterine leiomyoma
Muscular Dystrophy Duchenne
Myofibroblastoma
Sex Cord-Stromal Tumor
Tumors
Malignant mesothelioma
gastrointestinal stromal tumor
Metastasis
Sarcoma
Fibrosarcoma
Necrosis
Rhabdomyosarcoma Alveolar
Lipoma
Adenosarcoma
Melanoma
Chondrosarcoma
Sarcoma Endometrial Stromal
Medulloblastoma
Dermatofibroma
Centronuclear myopathy
Glomus Tumor
Muscular Dystrophies
uterine sarcoma
Histiocytoma Fibrous
Fibromatosis
uterine leiomyosarcoma
Carcinoma
Rhabdoid Tumor
Liposarcoma
epithelial tumor
VAGINAL POLYP
Chordoma
Adenoma Pleomorphic
Calcification
Myopathy
desmoid tumor
Wilms tumor
Sarcoma Synovial
Leiomyoblastoma
Granulosa Cell Tumor
Pseudotumor Inflammatory
desmoplastic small round-cell tumor
Sertoli Cell Tumor
Chondrosarcoma Mesenchymal
benign tumor
Muscle Neoplasms
Giant Cell Tumors
mesothelioma
Infantile myofibromatosis
Ewings sarcoma
Angiomyolipoma
Schwannoma
Granular cell tumor
Cardiomyopathy familial
Myofibrillar Myopathy
DERMATOFIBROSARCOMA PROTUBERANS
Myopathies Nemaline
stromal tumors
Sarcoma Spindle Cell
Myosarcoma
Leiomyosarcoma
Dilated Cardiomyopathy

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DES Gene

desmin

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