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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

DSP Gene

protein-coding GIFtS: 66
GCID: GC06P007541

desmoplakin

(Previous names: desmoplakin (DPI, DPII) )

Explore 62 diseases affiliated with
DSP 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
Desmoplakin¹		KPPS2¹ ⁵
DPI¹ ²		PPKS2¹ ⁵
DPII¹ ²		Desmoplakin (DPI, DPII)¹
250/210 KDa Paraneoplastic Pemphigus Antigen² ³		Desmoplakin I²
DP² ³		Desmoplakin II²

External Ids:	HGNC: 3052¹	Entrez Gene: 1832²	Ensembl: ENSG00000096696⁷	OMIM: 125647⁵	UniProtKB: P15924³

Export aliases for DSP gene to outside databases

Previous GC identifers: GC06P007526 GC06P007486 GC06P007419

(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 DSP:

Desmosomes are intercellular junctions that tightly link adjacent cells. Desmoplakin is an obligate component of

functional desmosomes that anchors intermediate filaments to desmosomal plaques. The N-terminus of desmoplakin is

required for localization to the desmosome and interacts with the N-terminal region of plakophilin 1 and plakoglobin.

The C-terminus of desmoplakin binds with intermediate filaments. In the mid-region of desmoplakin, a coiled-coiled rod

domain is responsible for homodimerization. Mutations in this gene are the cause of several cardiomyopathies and

keratodermas as well as the autoimmune disease paraneoplastic pemphigus. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: DESP_HUMAN, P15924

Function: Major high molecular weight protein of desmosomes. Involved in the organization of the desmosomal

cadherin-plakoglobin complexes into discrete plasma membrane domains and in the anchoring of intermediate filaments to

the desmosomes

Gene Wiki entry for DSP (Desmoplakin)

(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_000006.11 NC_018917.1 NT_007592.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the DSP gene promoter:
AML1a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: DSP promoter sequence

Search SABiosciences Chromatin IP Primers for DSP

Epigenetics:

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

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

Entrez Gene cytogenetic band: 6p24 Ensembl cytogenetic band: 6p24.3 HGNC cytogenetic band: 6pter-p21

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

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06P007541: view genomic region (about GC identifiers)

Start:	7,541,808 bp from pter	End:	7,586,950 bp from pter
Size:	45,143 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: DESP_HUMAN, P15924 (See protein sequence)

Recommended Name: Desmoplakin

Size: 2871 amino acids; 331774 Da

Subunit: Homodimer. Interacts with COL17A1 (via cytoplasmic region). Associates (via C-terminal) with KRT5-KRT14 (via

rod region), KRT8-KRT18 and VIM intermediate filaments. Interacts with DSC2

Subcellular location: Cell junction, desmosome. Cytoplasm, cytoskeleton. Note=Innermost portion of the desmosomal

plaque. Colocalizes with epidermal KRT5-KRT14 and simple KRT8-KRT18 keratins and VIM intermediate filaments network

3 PDB 3D structures from and Proteopedia for DSP:

1LM5 (3D)

1LM7 (3D)

3R6N (3D)

Secondary accessions: B2RTT2 O75993 Q14189 Q9UHN4

Alternative splicing: 2 isoforms: P15924-1 P15924-2

Explore the universe of human proteins at neXtProt for DSP: NX_P15924

Post-translational modifications:

Ser-2849 is probably phosphorylated by a cAMP-dependent protein kinase. Phosphorylation on Ser-2849 probably affects

its association with epidermal, simple cytokeratins and VIM intermediate filaments¹

Substrate of transglutaminase. Some glutamines and lysines are cross-linked to other desmoplakin molecules, to other

proteins such as keratin, envoplakin, periplakin and involucrin, and to lipids like omega-hydroxyceramide¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P15924

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

REFSEQ proteins (2 alternative transcripts):

NP_001008844.1 NP_004406.2

ENSEMBL proteins:

ENSP00000369129 ENSP00000396591

Reactome Protein details: P15924
Human Recombinant Protein Products:

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	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for DSP

Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001533	cornified envelope	IDA	10908733
GO:0005624	membrane fraction	--	--
GO:0005739	mitochondrion	IEA	--
GO:0005882	colocalizes with intermediate filament	ISS	16917092
GO:0005886	plasma membrane	TAS	--

DSP for ontologies About GeneDecksing

DSP Antibody Products:

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	Novus Biologicals DSP Antibodies
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	Uscn Antibodies for DSP
	Search ThermoFisher Antibodies for DSP

Assay Products for DSP:

	Browse Kits and Assays available from EMD Millipore
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	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for DSP
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for DSP

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

DSP for domains About GeneDecksing

2 InterPro domains/families:

IPR018159 Spectrin/alpha-actinin

IPR001101 Plectin_repeat

Graphical View of Domain Structure for InterPro Entry P15924

ProtoNet protein and cluster: P15924

1 Blocks protein family: IPB001101 Plectin repeat

UniProtKB/Swiss-Prot: DESP_HUMAN, P15924

Domain: Its association with epidermal and simple keratins is dependent on the tertiary structure induced by

heterodimerization of these intermediate filaments proteins and most likely involves recognition sites located in the

rod domain of these keratins

Domain: The N-terminal region is required for localization to the desmosomal plaque and interacts with the N-terminal

region of plakophilin 1

Domain: The three tandem plakin repeat regions in the C-terminus mediate binding to intermediate filaments

Similarity: Belongs to the plakin or cytolinker family

Similarity: Contains 17 plectin repeats

Similarity: Contains 1 SH3 domain

Similarity: Contains 6 spectrin repeats

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

Function Summary:

UniProtKB/Swiss-Prot: DESP_HUMAN, P15924

Function: Major high molecular weight protein of desmosomes. Involved in the organization of the desmosomal

cadherin-plakoglobin complexes into discrete plasma membrane domains and in the anchoring of intermediate filaments to

the desmosomes

Genatlas biochemistry entry for DSP:

desmoplakin DPI/II (desmosomal plaque component),BPAG1 homolog,intermediate filament associated protein (IFAP,type

III),plakin family of cell junction proteins

miRNA Products:		miRTarBase miRNAs that target DSP: hsa-let-7b (MIRT001637)

		OriGene 3'-UTR Clone (see all 2): DSP Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DSP
		4 QIAGEN miScript miRNA Assays for microRNAs that regulate DSP:
		hsa-miR-548p hsa-miR-137 hsa-miR-561 hsa-miR-548c-3p
		SwitchGear 3'UTR luciferase reporter plasmid: DSP 3' UTR sequence

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Gene Editing
Products:

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		GenScript: all cDNA clones in your preferred vector (see all 2): DSP (NM_004415)
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for DSP
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DSP

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005080	protein kinase C binding	IPI	18474624
GO:0005198	structural molecule activity	IDA	10908733
GO:0005200	structural constituent of cytoskeleton	TAS	9887343
GO:0005515	protein binding	IPI	16917092
GO:0030674	protein binding, bridging	IDA	10908733

DSP for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Dsp^tm2Efu for DSP
     5 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Dsp):

cellular

embryogenesis

growth/size

integument

mortality/aging

DSP for phenotypes About GeneDecksing

(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 - 5/10 super-pathways (see all 10) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Apoptotic cleavage of cellular proteins

Apoptotic cleavage of cellular proteins

1.00

Apoptotic execution phase

0.73

Cytoskeleton remodeling Keratin filaments

Cytoskeleton remodeling Keratin filaments

1.00

Cytoskeleton remodeling_Keratin filaments

0.91

Cell adhesion Endothelial cell contacts by junctional mechanisms

Cell adhesion Endothelial cell contacts by junctional mechanisms

1.00

Cell adhesion_Endothelial cell contacts by junctional mechanisms

0.97

Arrhythmogenic right ventricular cardiomyopathy (ARVC)

Arrhythmogenic right ventricular cardiomyopathy (ARVC)

1.00

Arrhythmogenic right ventricular cardiomyopathy

0.99

Adhesion

Adhesion

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for DSP

	Cell adhesion Endothelial cell contacts by junctional mechanisms
	Cytoskeleton remodeling Keratin filaments

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for DSP

ILK Signaling

1 Cell Signaling Technology (CST) Pathway for DSP

Adhesion

2 GeneGo (Thomson Reuters) Pathways for DSP

	Cytoskeleton remodeling Keratin filaments
	Cell adhesion Endothelial cell contacts by junctional mechanisms

2 BioSystems Pathways for DSP

	Arrhythmogenic right ventricular cardiomyopathy
	Alpha6-Beta4 Integrin Signaling Pathway

4 Reactome Pathways for DSP

	Apoptotic cleavage of cell adhesion proteins
	Apoptotic execution phase
	Apoptotic cleavage of cellular proteins
	Apoptosis

1 PharmGKB Pathway for DSP

Antiarrhythmic Pathway, Pharmacodynamics

1 Kegg Pathway (Kegg details for DSP):

Arrhythmogenic right ventricular cardiomyopathy (ARVC)

DSP for pathways About GeneDecksing

Interactions:

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

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

5/834 Interacting proteins for DSP (P15924^{2, 3} ENSP00000369129⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 834)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UCHL5	Q9Y5K5²^,³, ENSP00000356425⁴	MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000356425
PKP4	Q99569²^,³, ENSP00000374409⁴	MINT-1792815 I2D: score=4 STRING: ENSP00000374409
RELB	Q01201²^,³, ENSP00000221452⁴	MINT-49027 I2D: score=2 STRING: ENSP00000221452
RANBP2	P49792²^,³	MINT-7945693 MINT-7947479 I2D: score=1
IKBKE	Q14164²^,³	MINT-48119 I2D: score=2

About this table

Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002934	desmosome organization	ISS	16917092
GO:0003223	ventricular compact myocardium morphogenesis	ISS	16917092
GO:0006915	apoptotic process	TAS	--
GO:0006921	cellular component disassembly involved in execution phase of apoptosis	TAS	--
GO:0008544	epidermis development	TAS	9887343

DSP 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

DSP for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for DSP
10/15 Novoseek chemical compound relationships for DSP gene (see all 15) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
asulam	74.1	1	12101406 (1)
n,n-dimethylformamide	25.9	4	8344991 (2), 1560038 (1)
tgf beta1	14.1	1	10653172 (1)
ryanodine	13.8	2	19205777 (1)
retinoic acid	13.3	3	8884182 (2), 9892899 (1)
calcium	4.77	11	7698224 (3), 8269999 (2), 1324844 (1), 8941678 (1) (see all 8)
sucrose	0	2	10852826 (1)
steroid	0	1	10527821 (1)
progesterone	0	4	15084247 (2), 9195978 (2)
tyrosine	0	3	10226596 (1), 10564641 (1), 10427965 (1)

Search CenterWatch for drugs/clinical trials and news about DSP / DESP

(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, 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 DSP gene (2 alternative transcripts):

NM_001008844.1 NM_004415.2

Unigene Cluster for DSP:

Desmoplakin

Hs.519873 [show with all ESTs]

Unigene Representative Sequence: NM_004415

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

ENST00000379802(uc003mxp.1 uc003mxq.1 uc021yle.1) ENST00000418664

ENST00000506617

miRNA Products:		OriGene 3'-UTR Clone (see all 2): DSP Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DSP
		4 QIAGEN miScript miRNA Assays for microRNAs that regulate DSP:
		hsa-miR-548p hsa-miR-137 hsa-miR-561 hsa-miR-548c-3p
		SwitchGear 3'UTR luciferase reporter plasmid: DSP 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DSP

Additional cDNA sequence:

AB209992.1 AB621818.1 AF139065.1 AK130229.1 AK296756.1 AK301676.1 AK304182.1 BC140802.1

BC144587.1 HM151899.1 J05211.1 M77830.3

18 DOTS entries:

DT.218340 DT.95300567 DT.91821901 DT.92047452 DT.92455313 DT.100820419 DT.121310943 DT.95199828

DT.100820421 DT.121310974 DT.121311064 DT.121311072 DT.40115466 DT.86840470 DT.95199822 DT.95199851

DT.95345525 DT.86856410

24/483 AceView cDNA sequences (see all 483):

AI911702 AI076962 BQ003362 AU127260 BM674755 AA340777 R33456 BU956852

AI220573 AW771865 BM839177 BU727697 NM_004415 J05211 CB216510 AI439101

AI304772 AF139065 BM981054 BM759512 AI304615 AW591892 AA918281 AW514597

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for DSP About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4a	·	4b	^	5	^	6	^	7a	·	7b	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19	^	20	^	21	^	22	^	23a	·
SP1:																			-
SP2:																			-
SP3:

ExUns:	23b	^	24
SP1:	-
SP2:
SP3:

ECgene alternative splicing isoforms for DSP

(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

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

About this image

DSP expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

4 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Extraembryonic Mesoderm

Extraembryonic Capillary Plexus

Extraembryonic Angioblasts

Endothelium

Heart

Endocardium

Cushion Mesenchymal Cells

Endocardium

Kidney

Lung

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 7 LifeMap Cells

Name

Category

PureStem™ progenitor E68 (Embryonic Progenitor Cell)

PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)

Intermediate Mesoderm, Kidney

PureStem™ progenitor T42 (Embryonic Progenitor Cell)

PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ progenitor E69 (Embryonic Progenitor Cell)

PureStem™ progenitor T36 (Embryonic Progenitor Cell)

Posterior foregut-like cells (A scalable, suspensi...)

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

SOURCE GeneReport for Unigene cluster: Hs.519873

UniProtKB/Swiss-Prot: DESP_HUMAN, P15924

Tissue specificity: Isoform DPI is apparently an obligate constituent of all desmosomes. Isoform DPII resides

predominantly in tissues and cells of stratified origin

SABiosciences Expression via Pathway-Focused PCR Arrays including DSP:

Adherens Junctions in human mouse rat

Cancer PathwayFinder in human mouse rat

Cell Junction PathwayFinder in human mouse rat

Epithelial to Mesenchymal Transition (EMT) in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DSP

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DSP

(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 DSP gene from 6/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	DSP¹	desmoplakin	74.17(n) 77.77(a)		420869 XM_418957.3 XP_418957.3
lizard (Anolis carolinensis)	Reptilia	DSP⁶	--	74(a)	1 ↔ 1	GL343209.1(651547-708883)
African clawed frog (Xenopus laevis)	Amphibia	Xl.24434²	Xenopus laevis transcribed sequence with moderate similarity more	76.71(n)		CB209537.1
zebrafish (Danio rerio)	Actinopterygii	dspa⁶ CABZ01076173.1⁶	--	50(a) 37(a)	1 ↔ many 1 ↔ many	2(1936037-1964852) 20(53194569-53204058)
fruit fly (Drosophila melanogaster)	Insecta	shot⁶	short stop	4(a)	1 → many	2R(9751742-9829615)
worm (Caenorhabditis elegans)	Secernentea	D2096.11⁶ M116.5⁶ (see all 3)	Protein M116.5 (see all 3)	9(a) 9(a) (see all 3)	possible ortholog possible ortholog (see all 3)	IV(8389134-8392850) IV(8414280-8421050)

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for DSP gene

MACF1² EVPLL² EVPL² DST² EPPK1² PPL² PLEC²

1 SIMAP similar gene for DSP using alignment to 2 protein entries: DESP_HUMAN (see all proteins):

DSP variant protein

DSP 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)
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SNP ID	Valid	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28763962^1,2	C,	non-pathogenic	7449439(+)	`TCGGCT/CTGGGA`	2	--	int¹		3		CSA WA EU	751
rs121912998^1,2	C,F,	pathogenic	7419842(+)	`ACGAGG/ATGACC`	4	/M /V	mis¹		1		NA	2746
rs121912992^1,2	C,	pathogenic	7443327(+)	`TGGAGC/G/TGACAA`	6	S R	mis¹ syn¹		0	--	--	--	--
rs28931610^1,2	C	pathogenic	7462062(+)	`GTATTC/TGCTTA`	4	R C	mis¹		1		NA	2
rs77445784^1,2	C,F,	probable-non-pathogenic	7419859(+)	`GGCGGG/AGGCAC`	4	/G	syn¹		1		NA	2608
rs17604693^1,2	C,F,H,	probable-non-pathogenic	7443343(+)	`CCAACA/TTCGCT`	4	I F	mis¹		15		NA NS EA EU	7195
rs28763968^1,2	C,F,	probable-non-pathogenic	7458669(+)	`AAGAGG/AAAGAA`	3	/R	int¹ syn¹		2		NA EU	5237
rs145362059^1,2	C,F,	probable-non-pathogenic	7463267(+)	`GACACC/GAGCAG`	4	T	syn¹		2		NA EU	5551
rs148417566^1,2	C,	unknown	7449213(+)	`CACTTC/TTGCCT`	2	--	int¹		0	--	--	--	--
rs80325569^1,2	C,F,	unknown	7454690(+)	`TATCTG/AGCAAA`	4	/S /G	mis¹		2		WA NA	4664

HapMap Linkage Disequilibrium report for DSP (7541808 - 7586950 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for DSP: --
Human Gene Mutation Database (HGMD): DSP

Locus Specific Mutation Databases (LSDB): DSP

SABiosciences Cancer Mutation PCR Assays

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

DNA2.0 Custom Variant and Variant Library Synthesis for DSP

(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.)
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DSP for disorders           About GeneDecksing

OMIM gene information: 125647
OMIM disorders: 612908  605676  607450  607655  609638
UniProtKB/Swiss-Prot: DESP_HUMAN, P15924

Defects in DSP are the cause of palmoplantar keratoderma striate type 2 (SPPK2) [MIM:612908]; also known as

keratosis palmoplantaris striata II. SPPK2 is characterized by skin thickening in the palms (linear pattern) and the

soles (island-like pattern) and flexor aspect of the fingers. Abnormalities of the nails, the teeth and the hair are

rarely present

Defects in DSP are the cause of cardiomyopathy dilated with woolly hair and keratoderma (DCWHK) [MIM:605676];

also known as Carvajal syndrome or palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair.

DCWHK is an autosomal recessive cardiocutaneous syndrome characterized by a generalized striate keratoderma

particularly affecting the palmoplantar epidermis, woolly hair, and dilated left ventricular cardiomyopathy

Defects in DSP are the cause of familial arrhythmogenic right ventricular dysplasia type 8 (ARVD8)

[MIM:607450]; also known as arrhythmogenic right ventricular cardiomyopathy 8 (ARVC8). ARVD is an autosomal dominant

disease characterized by partial degeneration of the myocardium of the right ventricle, electrical instability, and

sudden death. It is clinically defined by electrocardiographic and angiographic criteria; pathologic findings,

replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular

free wall

Defects in DSP are the cause of skin fragility-woolly hair syndrome (SFWHS) [MIM:607655]. SFWHS is an

autosomal recessive genodermatosis characterized by focal and diffuse palmoplantar keratoderma, hyperkeratotic plaques

on the trunk and limbs, and woolly hair with varying degrees of alopecia

Defects in DSP are the cause of epidermolysis bullosa lethal acantholytic (EBLA) [MIM:609638]. EBLA is

characterized by severe fragility of skin and mucous membranes. The phenotype is lethal in the neonatal period because

of immense transcutaneous fluid loss. Typical features include universal alopecia, neonatal teeth, and nail loss.

Histopathology of the skin shows suprabasal clefting and acantholysis throughout the spinous layer, mimicking

pemphigus

20/62 diseases for DSP (see all 62): About MalaCards

pemphigus arrhythmogenic right ventricular dysplasia epidermolysis bullosa, lethal acantholytic keratoderma

skin fragility-woolly hair syndrome keratosis palmoplantaris striata ii hailey-hailey disease arrhythmogenic right ventricular dysplasia 8

woolly hair syndrome epidermolysis bullosa dilated cardiomyopathy with woolly hair and keratoderma cardiomyopathy

nonepidermolytic palmoplantar keratoderma erythema multiforme retinol binding protein pemphigus vulgaris

dendritic cell sarcoma follicular dendritic cell sarcoma plexiform schwannoma cellular schwannoma

5 diseases from the University of Copenhagen DISEASES database for DSP:

Bullous pemphigoid Arrhythmogenic right ventricular dysplasia Keratosis Erythema multiforme

LEOPARD syndrome

10/41 Novoseek disease relationships for DSP gene (see all 41) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
carvajal syndrome	93.2	5	14761782 (1), 16175511 (1), 19558499 (1), 17045679 (1) (see all 5)
naxos disease	89.8	5	16096717 (1), 16722579 (1), 16698823 (1), 19558499 (1) (see all 5)
keratoderma palmoplantar	88.1	18	15149499 (2), 10594734 (2), 18957847 (1), 16175511 (1) (see all 14)
pemphigus	87.1	20	9784047 (5), 1601988 (2), 1375506 (1), 7999603 (1) (see all 9)
arrhythmogenic right ventricular dysplasia	86.3	9	15941723 (2), 17413274 (1), 18957847 (1), 12373648 (1) (see all 8)
pemphigus vulgaris	83.6	6	2054341 (3), 1375506 (1), 11736914 (1)
pemphigoid bullous	83	41	1390446 (2), 2247105 (2), 7999603 (1), 1497365 (1) (see all 28)
hailey-hailey disease	75.9	7	2054341 (3), 7520458 (2), 1694381 (1)
keratoderma	73.1	3	11063735 (1), 15897387 (1), 11841538 (1)
cardiomyopathy	70.6	13	14761782 (1), 16461827 (1), 19178614 (1), 17105773 (1) (see all 13)

GeneTests: DSP

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant

Human Genome Epidemiology (HuGE) Navigator: DSP (19 documents)

Export disorders for DSP 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)
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PubMed articles for DSP gene, integrated from 9 sources (see all 385):
(articles sorted by number of sources associating them with DSP)

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

Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. (PubMed id 16175511)^{1, 2, 9} Jonkman M.F.... Pas H.H. (2005)
Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations. (PubMed id 15941723)^{1, 2, 9} Bauce B.... Nava A. (2005)
Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. (PubMed id 11841538)^{1, 2, 9} Whittock N.V....McGrath J.A. (2002)
Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. (PubMed id 12373648)^{1, 2, 9} Rampazzo A....Danieli G.A. (2002)
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. (PubMed id 11063735)^{1, 2, 9} Norgett E.E....Kelsell D.P. (2000)
Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma. (PubMed id 9887343)^{1, 2, 9} Armstrong D.K.... Hughes A.E. (1999)
Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. (PubMed id 10594734)^{1, 2, 9} Whittock N.V.... McGrath J.A. (1999)
Molecular structure of the human desmoplakin I and II amino terminus. (PubMed id 1731325)^{1, 2, 9} Virata M.L.A.... Green K.J. (1992)
Structure of the human desmoplakins. Implications for function in the desmosomal plaque. (PubMed id 1689290)^{1, 2, 9} Green K.J.... Nilles L.A. (1990)
Structures of two intermediate filament-binding fragments of desmoplakin reveal a unique repeat motif structure. (PubMed id 12101406)^{1, 2, 9} Choi H.J....Weis W.I. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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)
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Entrez Gene: 1832	HGNC: 3052	AceView: DSP	Ensembl:ENSG00000096696	euGenes: HUgn1832
ECgene: DSP	Kegg: 1832	H-InvDB: DSP

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for DSP	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DSP
Wikipedia	http://en.wikipedia.org/wiki/Desmoplakin

Intellectual Property for DSP gene
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Patent Information for DSP gene:
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GeneCards and IP:
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Pemphigoid Bullous
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