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MIRAGE

desmoplakin

Summary

Gene Symbol

DSP

Organism

Homo sapiens (human)

External Links

NCBI Gene

1832

KEGG Gene ID

PubChem

1832

Alliance of Genome Resources

HGNC:3052

Annotation

Keyword

3D-structure
Alternative splicing
Cardiomyopathy
Cell junction
Cell membrane
Cell projection
Coiled coil
Cytoplasm
DNA-binding
Disease variant
Epidermolysis bullosa
Methylation
Nucleus
Palmoplantar keratoderma
Phosphoprotein
Proteomics identification
Reference proteome
Repeat
SH3 domain

Proteins

Displaying **all 3** entries
UniProt	Protein Name
A0AAQ5BH43
P15924	250/210 kDa paraneoplastic pemphigus antigen
B4DKX6

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 45 in total

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GO Term	Evidence Code	PMID
telomere maintenance	IMP
desmosome maintenance	ISS
desmosome maintenance	IEA
desmosome organization	ISS
desmosome organization	IEA

GO Hierarchy

biological process

cellular process [inference]

cell adhesion [inference]

cell-cell adhesion

homotypic cell-cell adhesion [inference]

cardiac muscle cell-cardiac muscle cell adhesion [inference]

bundle of His cell-Purkinje myocyte adhesion involved in cell communication

heterotypic cell-cell adhesion [inference]

bundle of His cell-Purkinje myocyte adhesion involved in cell communication

epithelial cell-cell adhesion

metabolic process [inference]

macromolecule metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

peptide cross-linking

macromolecule modification [inference]

protein modification process [inference]

peptide cross-linking

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

telomere maintenance

primary metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

telomere maintenance

protein metabolic process [inference]

protein modification process [inference]

peptide cross-linking

cellular process involved in reproduction in multicellular organism [inference]

germ cell development

intermediate filament-based process [inference]

intermediate filament cytoskeleton organization

intermediate filament organization

cellular developmental process [inference]

cell differentiation [inference]

epithelial cell differentiation [inference]

epidermal cell differentiation [inference]

keratinocyte differentiation

cell development [inference]

epithelial cell development [inference]

endothelial cell development [inference]

establishment of endothelial barrier

germ cell development

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

cytoskeleton organization [inference]

intermediate filament cytoskeleton organization

intermediate filament organization

chromosome organization [inference]

telomere organization [inference]

telomere maintenance

cell junction organization [inference]

cell junction maintenance [inference]

cell-cell junction maintenance [inference]

desmosome maintenance

cell-cell junction organization [inference]

desmosome organization

desmosome maintenance

adherens junction organization

cell-cell junction maintenance [inference]

desmosome maintenance

cellular component maintenance [inference]

cell junction maintenance [inference]

cell-cell junction maintenance [inference]

desmosome maintenance

supramolecular fiber organization [inference]

intermediate filament organization

reproductive process [inference]

developmental process involved in reproduction [inference]

germ cell development

multicellular organismal reproductive process [inference]

cellular process involved in reproduction in multicellular organism [inference]

germ cell development

multicellular organismal process [inference]

pattern specification process [inference]

regionalization [inference]

neural tube patterning

developmental process [inference]

developmental process involved in reproduction [inference]

germ cell development

anatomical structure morphogenesis [inference]

tissue morphogenesis [inference]

muscle tissue morphogenesis [inference]

cardiac muscle tissue morphogenesis [inference]

ventricular cardiac muscle tissue morphogenesis [inference]

ventricular compact myocardium morphogenesis

anatomical structure development [inference]

tissue development [inference]

epidermis development

cell development [inference]

epithelial cell development [inference]

endothelial cell development [inference]

establishment of endothelial barrier

germ cell development

animal organ development [inference]

skin development

cellular developmental process [inference]

cell differentiation [inference]

epithelial cell differentiation [inference]

epidermal cell differentiation [inference]

keratinocyte differentiation

cell development [inference]

epithelial cell development [inference]

endothelial cell development [inference]

establishment of endothelial barrier

germ cell development

response to stimulus [inference]

response to stress [inference]

response to wounding [inference]

wound healing

localization [inference]

macromolecule localization [inference]

intracellular protein localization [inference]

protein localization to cell junction [inference]

protein localization to cell-cell junction

biological regulation [inference]

regulation of biological process [inference]

regulation of localization [inference]

regulation of protein localization

positive regulation of protein localization

positive regulation of biological process [inference]

positive regulation of cellular process [inference]

positive regulation of cell differentiation [inference]

positive regulation of epithelial cell differentiation [inference]

positive regulation of epidermal cell differentiation [inference]

positive regulation of keratinocyte differentiation

positive regulation of vasculogenesis

positive regulation of developmental process [inference]

positive regulation of cell differentiation [inference]

positive regulation of epithelial cell differentiation [inference]

positive regulation of epidermal cell differentiation [inference]

positive regulation of keratinocyte differentiation

positive regulation of vasculogenesis

positive regulation of epidermis development [inference]

positive regulation of epidermal cell differentiation [inference]

positive regulation of keratinocyte differentiation

positive regulation of multicellular organismal process [inference]

positive regulation of keratinocyte differentiation

positive regulation of protein localization

negative regulation of biological process [inference]

negative regulation of cellular process [inference]

negative regulation of developmental process [inference]

negative regulation of cell differentiation

regulation of developmental process [inference]

regulation of cell differentiation [inference]

regulation of epithelial cell differentiation [inference]

positive regulation of epithelial cell differentiation [inference]

positive regulation of epidermal cell differentiation [inference]

positive regulation of keratinocyte differentiation

regulation of epidermal cell differentiation [inference]

positive regulation of epidermal cell differentiation [inference]

positive regulation of keratinocyte differentiation

regulation of keratinocyte differentiation [inference]

positive regulation of keratinocyte differentiation

negative regulation of cell differentiation

positive regulation of cell differentiation [inference]

positive regulation of epithelial cell differentiation [inference]

positive regulation of epidermal cell differentiation [inference]

positive regulation of keratinocyte differentiation

positive regulation of vasculogenesis

regulation of vasculogenesis [inference]

positive regulation of vasculogenesis

regulation of epidermis development [inference]

regulation of epidermal cell differentiation [inference]

positive regulation of epidermal cell differentiation [inference]

positive regulation of keratinocyte differentiation

regulation of keratinocyte differentiation [inference]

positive regulation of keratinocyte differentiation

positive regulation of epidermis development [inference]

positive regulation of epidermal cell differentiation [inference]

positive regulation of keratinocyte differentiation

negative regulation of developmental process [inference]

negative regulation of cell differentiation

positive regulation of developmental process [inference]

positive regulation of cell differentiation [inference]

positive regulation of epithelial cell differentiation [inference]

positive regulation of epidermal cell differentiation [inference]

positive regulation of keratinocyte differentiation

positive regulation of vasculogenesis

positive regulation of epidermis development [inference]

positive regulation of epidermal cell differentiation [inference]

positive regulation of keratinocyte differentiation

regulation of multicellular organismal development [inference]

regulation of epithelial cell differentiation [inference]

positive regulation of epithelial cell differentiation [inference]

positive regulation of epidermal cell differentiation [inference]

positive regulation of keratinocyte differentiation

regulation of epidermal cell differentiation [inference]

positive regulation of epidermal cell differentiation [inference]

positive regulation of keratinocyte differentiation

regulation of keratinocyte differentiation [inference]

positive regulation of keratinocyte differentiation

regulation of cellular process [inference]

regulation of actin filament-based process [inference]

regulation of actin filament-based movement [inference]

regulation of cardiac muscle cell contraction [inference]

regulation of ventricular cardiac muscle cell action potential

regulation of cell differentiation [inference]

regulation of epithelial cell differentiation [inference]

positive regulation of epithelial cell differentiation [inference]

positive regulation of epidermal cell differentiation [inference]

positive regulation of keratinocyte differentiation

regulation of epidermal cell differentiation [inference]

positive regulation of epidermal cell differentiation [inference]

positive regulation of keratinocyte differentiation

regulation of keratinocyte differentiation [inference]

positive regulation of keratinocyte differentiation

negative regulation of cell differentiation

positive regulation of cell differentiation [inference]

positive regulation of epithelial cell differentiation [inference]

positive regulation of epidermal cell differentiation [inference]

positive regulation of keratinocyte differentiation

positive regulation of vasculogenesis

regulation of vasculogenesis [inference]

positive regulation of vasculogenesis

positive regulation of cellular process [inference]

positive regulation of cell differentiation [inference]

positive regulation of epithelial cell differentiation [inference]

positive regulation of epidermal cell differentiation [inference]

positive regulation of keratinocyte differentiation

positive regulation of vasculogenesis

negative regulation of cellular process [inference]

regulation of cell cycle [inference]

negative regulation of cell cycle

regulation of multicellular organismal process [inference]

regulation of system process [inference]

regulation of muscle system process [inference]

regulation of muscle contraction [inference]

regulation of striated muscle contraction [inference]

regulation of cardiac muscle contraction [inference]

regulation of cardiac muscle cell contraction [inference]

regulation of ventricular cardiac muscle cell action potential

regulation of blood circulation [inference]

regulation of heart contraction [inference]

regulation of heart rate [inference]

regulation of heart rate by cardiac conduction

regulation of cardiac muscle contraction [inference]

regulation of cardiac muscle cell contraction [inference]

regulation of ventricular cardiac muscle cell action potential

cardiac conduction [inference]

regulation of heart rate by cardiac conduction

positive regulation of multicellular organismal process [inference]

positive regulation of keratinocyte differentiation

regulation of multicellular organismal development [inference]

regulation of epithelial cell differentiation [inference]

positive regulation of epithelial cell differentiation [inference]

positive regulation of epidermal cell differentiation [inference]

positive regulation of keratinocyte differentiation

regulation of epidermal cell differentiation [inference]

positive regulation of epidermal cell differentiation [inference]

positive regulation of keratinocyte differentiation

regulation of keratinocyte differentiation [inference]

positive regulation of keratinocyte differentiation

regulation of action potential [inference]

regulation of cardiac muscle cell action potential [inference]

regulation of ventricular cardiac muscle cell action potential

regulation of biological quality [inference]

regulation of heart rate [inference]

regulation of heart rate by cardiac conduction

regulation of protein stability [inference]

protein stabilization

regulation of membrane potential [inference]

regulation of action potential [inference]

regulation of cardiac muscle cell action potential [inference]

regulation of ventricular cardiac muscle cell action potential

Displaying entries **6 - 10** of 36 in total

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GO Term	Evidence Code	PMID
cytoplasm	ISS
cytoplasm	EXP
cytoplasm	IDA
cytoplasm	IBA
cytoplasm	IEA

GO Hierarchy

cellular component

cellular anatomical structure [inference]

cytoplasm

membrane [inference]

plasma membrane

cornified envelope

organelle membrane [inference]

vesicle membrane [inference]

cytoplasmic vesicle membrane [inference]

secretory granule membrane [inference]

ficolin-1-rich granule membrane

bounding membrane of organelle [inference]

secretory granule membrane [inference]

ficolin-1-rich granule membrane

plasma membrane region [inference]

basolateral plasma membrane

anchoring junction [inference]

cell-cell junction

cell-cell contact zone [inference]

intercalated disc

cell projection [inference]

plasma membrane bounded cell projection [inference]

neuron projection [inference]

axon

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular membrane-bounded organelle [inference]

nucleus

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

membraneless organelle [inference]

intracellular membraneless organelle [inference]

cytoskeleton

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

intracellular membraneless organelle [inference]

cytoskeleton

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

supramolecular complex [inference]

supramolecular polymer [inference]

supramolecular fiber [inference]

polymeric cytoskeletal fiber [inference]

intermediate filament

Displaying entries **1 - 5** of 8 in total

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GO Term	Evidence Code	PMID
RNA binding	HDA
protein kinase C binding	IPI
structural molecule activity	IBA
structural molecule activity	IEA
structural constituent of cytoskeleton	TAS

GO Hierarchy

molecular function

structural molecule activity

structural constituent of cytoskeleton

binding [inference]

nucleic acid binding [inference]

RNA binding

protein binding

enzyme binding [inference]

kinase binding [inference]

protein kinase binding [inference]

protein kinase C binding

cell adhesion molecule binding [inference]

cell adhesion mediator activity [inference]

cell-cell adhesion mediator activity [inference]

protein binding involved in heterotypic cell-cell adhesion [inference]

cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication

scaffold protein binding

Gene Ontology information from NCBI Gene and UniProt.

Disease

Disease Ontology

Displaying **all 5** entries
DO ID	Disease Name	Source
DOID:0110076	arrhythmogenic right ventricular dysplasia 8	Alliance of Genome Resources
DOID:12930	dilated cardiomyopathy	Alliance of Genome Resources
DOID:0050431	arrhythmogenic right ventricular cardiomyopathy	Alliance of Genome Resources
DOID:0081109	keratosis palmoplantaris striata 2	Alliance of Genome Resources
DOID:0090128	Carvajal syndrome	Alliance of Genome Resources

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Last updated: April 6, 2026