DSP (desmoplakin)

2007-02-01 Affiliation

Identity

HGNC

DSP

LOCATION

6p24.3

LOCUSID

1832

ALIAS

DCWHKTA,DP

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 1832
MIM: 125647
HGNC: 3052
Ensembl: ENSG00000096696

Variants:

dbSNP: 1832
ClinVar: 1832
TCGA: ENSG00000096696
COSMIC: DSP

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000096696	ENST00000379802	P15924
ENSG00000096696	ENST00000418664	P15924

Expression (GTEx)

500

1000

1500

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Arrhythmogenic right ventricular cardiomyopathy (ARVC)	KEGG	ko05412
Arrhythmogenic right ventricular cardiomyopathy (ARVC)	KEGG	hsa05412
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
Programmed Cell Death	REACTOME	R-HSA-5357801
Apoptosis	REACTOME	R-HSA-109581
Apoptotic execution phase	REACTOME	R-HSA-75153
Apoptotic cleavage of cellular proteins	REACTOME	R-HSA-111465
Apoptotic cleavage of cell adhesion proteins	REACTOME	R-HSA-351906
Developmental Biology	REACTOME	R-HSA-1266738
Neutrophil degranulation	REACTOME	R-HSA-6798695
Keratinization	REACTOME	R-HSA-6805567
Formation of the cornified envelope	REACTOME	R-HSA-6809371

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PMIDs
PA134871907	TMEM43	Gene	DataAnnotation	associated
PA27489	DSC2	Gene	DataAnnotation	associated
PA27502	DSG2	Gene	DataAnnotation	associated
PA33357	PKP2	Gene	DataAnnotation	associated
PA446847	Arrhythmogenic Right Ventricular Dysplasia	Disease	DataAnnotation, Literature, MultilinkAnnotation	associated	23788249

References

Pubmed ID	Year	Title	Citations
12373648	2002	Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy.	117
16917092	2006	Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy.	89
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
20031617	2009	Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.	61
16365169	2005	Desmoplakin assembly dynamics in four dimensions: multiple phases differentially regulated by intermediate filaments and actin.	58
16061754	2005	Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy.	50
22240500	2012	Electrophysiological abnormalities precede overt structural changes in arrhythmogenic right ventricular cardiomyopathy due to mutations in desmoplakin-A combined murine and human study.	48
16175511	2005	Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa.	41
22791817	2012	Desmoplakin acts as a tumor suppressor by inhibition of the Wnt/β-catenin signaling pathway in human lung cancer.	40
16467215	2006	Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome.	31

Citation

Dessen P

DSP (desmoplakin)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45936/dsp-(desmoplakin)