ENSG00000096696


Homo sapiens

Features
Gene ID: ENSG00000096696
  
Biological name :DSP
  
Synonyms : desmoplakin / DSP / P15924
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: 1
Band: p24.3
Gene start: 7541575
Gene end: 7586717
  
Corresponding Affymetrix probe sets: 200606_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000369129
Ensembl peptide - ENSP00000396591
NCBI entrez gene - 1832     See in Manteia.
OMIM - 125647
RefSeq - NM_001319034
RefSeq - NM_001008844
RefSeq - NM_004415
RefSeq Peptide - NP_001008844
RefSeq Peptide - NP_001305963
RefSeq Peptide - NP_004406
swissprot - P15924
Ensembl - ENSG00000096696
  
Related genetic diseases (OMIM): 607450 - Arrhythmogenic right ventricular dysplasia 8, 607450
  605676 - Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676
  615821 - Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821
  609638 - Epidermolysis bullosa, lethal acantholytic, 609638
  612908 - Keratosis palmoplantaris striata II, 612908
  607655 - Skin fragility-woolly hair syndrome, 607655
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 dspaENSDARG00000022309Danio rerio
 wu:fi04e12ENSDARG00000076673Danio rerio
 DSPENSGALG00000012790Gallus gallus
 DspENSMUSG00000054889Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PLEC / Q15149 / plectinENSG0000017820933
DST / Q03001 / dystoninENSG0000015191419
MACF1 / Q9UPN3 / microtubule-actin crosslinking factor 1ENSG0000012760318
EPPK1 / epiplakin 1ENSG0000026115017
EVPL / Q92817 / envoplakinENSG0000016788014
PPL / O60437 / periplakinENSG0000011889811
EVPLL / A8MZ36 / envoplakin likeENSG000002148601


Protein motifs (from Interpro)
Interpro ID Name
 IPR001101  Plectin repeat
 IPR018159  Spectrin/alpha-actinin
 IPR028462  Desmoplakin
 IPR035915  Plakin repeat superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002934 desmosome organization ISS
 biological_processGO:0003223 ventricular compact myocardium morphogenesis ISS
 biological_processGO:0008544 epidermis development TAS
 biological_processGO:0018149 peptide cross-linking IDA
 biological_processGO:0030216 keratinocyte differentiation IDA
 biological_processGO:0031424 keratinization TAS
 biological_processGO:0034332 adherens junction organization IEA
 biological_processGO:0042060 wound healing IEA
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0043588 skin development IEA
 biological_processGO:0045104 intermediate filament cytoskeleton organization IEA
 biological_processGO:0045109 intermediate filament organization ISS
 biological_processGO:0070268 cornification TAS
 biological_processGO:0071896 protein localization to adherens junction ISS
 biological_processGO:0086073 bundle of His cell-Purkinje myocyte adhesion involved in cell communication IMP
 biological_processGO:0086091 regulation of heart rate by cardiac conduction IMP
 biological_processGO:0098609 cell-cell adhesion IEA
 biological_processGO:0098911 regulation of ventricular cardiac muscle cell action potential IMP
 cellular_componentGO:0001533 cornified envelope IDA
 cellular_componentGO:0005634 nucleus HDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005882 intermediate filament ISS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005911 cell-cell junction IEA
 cellular_componentGO:0005916 fascia adherens IEA
 cellular_componentGO:0014704 intercalated disc IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016323 basolateral plasma membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030057 desmosome IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0101003 ficolin-1-rich granule membrane TAS
 molecular_functionGO:0003723 RNA binding HDA
 molecular_functionGO:0005080 protein kinase C binding IPI
 molecular_functionGO:0005198 structural molecule activity IDA
 molecular_functionGO:0005200 structural constituent of cytoskeleton TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0030674 protein binding, bridging IDA
 molecular_functionGO:0050839 cell adhesion molecule binding IEA
 molecular_functionGO:0086083 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication IC
 molecular_functionGO:0097110 scaffold protein binding IPI


Pathways (from Reactome)
Pathway description
Apoptotic cleavage of cell adhesion proteins
Neutrophil degranulation
Keratinization
Formation of the cornified envelope


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000535 Sparse eyebrows 
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 HP:0000653 Sparse eyelashes "Decreased density/number of eyelashes." [pmid:19125427]
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 HP:0000695 Neonatal teeth 
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 HP:0000982 Palmoplantar keratoderma 
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 HP:0000989 Pruritus "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:curators]
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 HP:0001030 Fragile skin 
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 HP:0001036 Parakeratosis 
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 HP:0001057 Aplasia cutis congenita "A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs." [HPO:curators]
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 HP:0001279 Syncope "Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. This term refers to an abnormally increased disposition to syncope." [HPO:curators]
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 HP:0001425 Heterogeneous 
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 HP:0001508 Failure to thrive 
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 HP:0001595 Hair abnormality 
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 HP:0001596 Alopecia "Loss of hair from the head or body." [HPO:curators]
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 HP:0001597 Abnormality of the nails "Abnormality of the fingernails or toenails." [HPO:curators]
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 HP:0001626 Abnormality of the cardiovascular system "Any abnormality of the heart or vasculature." [HPO:curators]
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 HP:0001635 Congestive heart failure "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators]
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 HP:0001638 Cardiomyopathy 
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 HP:0001640 Cardiomegaly 
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 HP:0001644 Dilated cardiomyopathy 
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 HP:0001645 Sudden cardiac death 
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 HP:0001663 Ventricular fibrillation 
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 HP:0001741 Phimosis 
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 HP:0001798 Anonychia "Total absence of nails." [HPO:curators]
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 HP:0001808 Fragile nails 
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 HP:0001820 Leukonychia 
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 HP:0001852 Gap between first and second toes "The presence of a larger than normal gap between the first and second toes related to medial displacement of the first toe." [HPO:curators]
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 HP:0002020 Gastroesophageal reflux 
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 HP:0002110 Bronchiectasis 
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 HP:0002164 Nail dysplasia 
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 HP:0002206 Pulmonary fibrosis 
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 HP:0002224 Woolly hair 
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 HP:0002289 Alopecia, complete 
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 HP:0002875 Exertional dyspnea 
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 HP:0003811 Neonatal death 
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 HP:0004057 Mitten deformity 
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 HP:0004756 Ventricular tachycardia 
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 HP:0004791 Esophageal ulceration 
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 HP:0005588 Palmoplantar keratoderma, patchy 
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 HP:0006682 Ventricular extrasystoles "Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node." [HPO:curators]
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 HP:0007475 Epidermolytic hyperkeratosis 
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 HP:0007548 Palmoplantar keratosis with erythema and scale 
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 HP:0008064 Ichthyosiform abnormality of the skin 
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 HP:0008094 Widely spaced toes "The presence of an abnormally wide spacing between the toes." [HPO:curators]
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 HP:0008404 Nail dystrophy, variable 
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 HP:0009804 Reduced number of teeth 
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 HP:0009884 Tapered distal phalanges of the hand 
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 HP:0010444 Pulmonary insufficiency "The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole." [HPO:curators]
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 HP:0011663 Arrhythmogenic right ventricular cardiomyopathy "Arrhythmogenic right ventricular cardiomyopathy (ARVC) is defined histologically by the presence of progressive replacement of right ventricular myocardium with adipose and fibrous tissue often confined to a triangle of dysplasia comprising the right ventricular inflow, outflow, and apex. While these pathologic abnormalities can result in functional and morphological right ventricular abnormalities, they also occur in the left ventricle, producing a DCM phenotype, or can be present in the absence of clinically detectable structural changes in either ventricle. For the purposes of this classification, ARVC is defined by the presence of right ventricular dysfunction (global or regional), with or without left ventricular disease, in the presence of histological evidence for the disease and/or electrocardiographic abnormalities in accordance with published criteria." [pmid:17916581]
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 HP:0012735 Cough "A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation." [HPO:probinson]
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 HP:0025175 Honeycomb lung "Extensive interstitial fibrosis with alveolar disruption and bronchiolectasis." []
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 HP:0025179 Ground-glass opacification "A descriptive term that is applied to computer tomography imaging and that refers to a hazy area of increased attenuation in the lung with preserved bronchial and vascular markings." []
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 HP:0025390 Reticular pattern on pulmonary HRCT "On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh." [PMID:23247773]
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 HP:0030816 Gingival recession "The loss of gum tissue. The result is that gum tissue is recessed and its position on the tooth is lowered, exposing the roots of the teeth." []
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 HP:0030830 Rales "Abnormal breath sounds characterized by discontinuous clicking or rattling." [UToronto:chum]
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 HP:0100759 Clubbing of fingers "Terminal broadening of the fingers (distal phalanges of the fingers)." [HPO:sdoelken]
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 HP:0100792 Acantolysis "The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes." [HPO:sdoelken]
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 HP:0200041 skin erosion "A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed." [HPO:SKOEHLER]
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 HP:0200097 Oral mucusa blisters 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000164305 CASP3 / P42574 / caspase 3  / reaction






 

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