DSP

GENERAL INFORMATION

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Gene name

DSP

Gene description

Desmoplakin

Protein class

Cytoskeleton related proteins
Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Group enriched (esophagus, skin)
GTEx:Tissue enhanced (skin)

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic and membranous expression in squamous epithelium and intercalated discs of the heart muscle.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 3 antibodies.
HPA045840 , HPA054950 , CAB037324
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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

Liver

Colon

Kidney

Testis

Skin



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Group enriched (esophagus, skin)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (skin)

Organ

Expression



GENE INFORMATION

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Gene name

DSP (HGNC Symbol)

Synonyms

DPI, DPII, KPPS2, PPKS2

Description

Desmoplakin (HGNC Symbol)

Entrez gene summary

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]

Chromosome

6

Cytoband

p24.3

Chromosome location (bp)

7541575 - 7586717

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000096696 (version 78.38)

Entrez gene

1832

UniProt

P15924 (UniProt - Evidence at protein level)

neXtProt

NX_P15924

Antibodypedia

DSP antibodies


PROTEIN BROWSER

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ENST00000379802
 
ENST00000418664
 
 
 
 


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)

DSP-001 ENSP00000369129
ENST00000379802
P15924
Show all »
Show » Show » 2871 331.8 No 0
DSP-002 ENSP00000396591
ENST00000418664
P15924
Show all »
Show » Show » 2272 260.1 No 0