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Gene : DSP Homo sapiens

Name  ? desmoplakin Cytological Location  6p24.3
Brief Description  desmoplakin
Description  This gene encodes a protein that anchors intermediate filaments to desmosomal plaques and forms an obligate component of functional desmosomes. Mutations in this gene are the cause of several cardiomyopathies and keratodermas, including skin fragility-woolly hair syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
  • synonyms:
  • KPPS2,
  • OTTHUMG00000014212,
  • desmoplakin (DPI, DPII),
  • DPI,
  • HGNC:3052,
  • NM_004415,
  • uc003mxp.2,
  • DSP,
  • DPII,
  • J05211,
  • PPKS2,
  • DCWHKTA,
  • DP
  • identifiers:
  • 1832,
  • ENSG00000096696,
  • DSP

Genome feature

Region: gene ? Length: 45044  
Location: 6:7541671-7586714 Cyto location: 6p24.3


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

6 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

3753 SN Ps

5 Cross References

20 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results