Biomarker: desmoplakin II

Histology type: endometrial carcinoma

Country: Japan

Region: Sapporo

Followed up time :

Conclusion: Reduction of desmoplakin II expression may play an important role in the invasiveness and metastatic activity of human endometrial carcinoma. They can therefore be used as differentiation markers for endometrial carcinoma.

Sample type : tissue

Sample method: immunofluorescence

Expression pattern : expression

Funtion Uniprot: Major high molecular weight protein of desmosomes. Involved in the organization of the desmosomal cadherin-plakoglobin complexes into discrete plasma membrane domains and in the anchoring of intermediate filaments to the desmosomes.

UniProt ID: P15924

UniProt Link: https://www.uniprot.org/uniprotkb/P15924/entry

Molecular function from UniProt:

Tissue specificity from UniProt: Expressed in oral mucosa (at protein level) (PubMed:30479852). Expressed in arrector pili muscle (at protein level) (PubMed:29034528). Isoform DPI Apparently an obligate constituent of all desmosomes. Isoform DPII Resides predominantly in tissues and cells of stratified origin.

Subcellular UniProt: #Cell junction #Cell membrane #Cytoplasm #Cytoskeleton #Membrane

Alternative name from UniProt:

Recommended name: Desmoplakin

Gene name from HGNC: DSP (DPI, DPII, KPPS2, PPKS2)

HPA class: Disease related genes Human disease related genes Plasma proteins

AlphaFold DB: P15924

AlphaFold Link: https://www.sasbdb.org/uniprot/P15924/

HPA link: https://www.proteinatlas.org/ENSG00000096696-DSP

Tissue specificity RNA from HPA: Tissue enhanced (esophagus, skin)

Tissue expression from HPA: Cytoplasmic and membranous expression most abundant in squamous epithelia and intercalated discs.

Single cell type specificity Cell type enhanced (Suprabasal keratinocytes, Squamous epithelial cells, Basal keratinocytes, Cardiomyocytes

Immune cell specificity: Immune cell enriched (naive B-cell)

Subcellular summary HPA Located in Cell Junctions

Cancer prognostic summary HPA Prognostic marker in renal cancer (favorable) and urothelial cancer (unfavorable)

Pathology link: https://www.proteinatlas.org/ENSG00000096696-DSP/pathology

Pathology endo: https://www.proteinatlas.org/ENSG00000096696-DSP/pathology/endometrial+cancer

Phenotype ID: 612908| 605676|607450| 607655| 609638|615821

Disease: Keratoderma, palmoplantar, striate 2 (SPPK2)|Cardiomyopathy, dilated, with woolly hair and keratoderma (DCWHK)| Arrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8)| Skin fragility-woolly hair syndrome (SFWHS)|Epidermolysis bullosa, lethal acantholytic (EBLA)|Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis (DCWHKTA)

Note1: The disease is caused by variants affecting the gene represented in this entry |The disease is caused by variants affecting the gene represented in this entry| The disease is caused by variants affecting the gene represented in this entry| The disease is caused by variants affecting the gene represented in this entry|The disease is caused by variants affecting the gene represented in this entry| The disease is caused by variants affecting the gene represented in this entry

OMIM link1: https://www.omim.org/entry/612908 |https://www.omim.org/entry/605676| https://www.omim.org/entry/607450| https://www.omim.org/entry/607655|https://www.omim.org/entry/609638|https://www.omim.org/entry/615821

HGNC ID: HGNC:3052

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3052