Biomarker: Desmin

Histology type: endometrial stromal tumor

Country: China

Region: Beijing

Study type: Comparative Study

Followed up time :

Subgroup 1 name : Positive in EST

Subgroup 1 number: 5

Subgroup 2 name: negative in EST

Subgroup 2 number: 16

Conclusion: Highly cellular leiomyomas have distinct morphologic features. H-caldesmon, calponin, CD10, desmin and SMA are helpful in the differential diagnosis of HCL and EST.

Sample type : tissue

Sample method: immunohistochemistry

Expression pattern : expression

Funtion Uniprot: Muscle-specific type III intermediate filament essential for proper muscular structure and function. Plays a crucial role in maintaining the structure of sarcomeres, inter-connecting the Z-disks and forming the myofibrils, linking them not only to the sarcolemmal cytoskeleton, but also to the nucleus and mitochondria, thus providing strength for the muscle fiber during activity (PubMed:25358400). In adult striated muscle they form a fibrous network connecting myofibrils to each other and to the plasma membrane from the periphery of the Z-line structures (PubMed:24200904, PubMed:25394388, PubMed:26724190). May act as a sarcomeric microtubule-anchoring protein: specifically associates with detyrosinated tubulin-alpha chains, leading to buckled microtubules and mechanical resistance to contraction. Contributes to the transcriptional regulation of the NKX2-5 gene in cardiac progenitor cells during a short period of cardiomyogenesis and in cardiac side population stem cells in the adult. Plays a role in maintaining an optimal conformation of nebulette (NEB) on heart muscle sarcomeres to bind and recruit cardiac alpha-actin (By similarity).

UniProt ID: P17661

UniProt Link: https://www.uniprot.org/uniprotkb/P17661/entry

Molecular function from UniProt:

Subcellular UniProt: #Cell membrane #Cytoplasm #Intermediate filament #Membrane #Nucleus

Recommended name: Desmin

Gene name from HGNC: DES (CMD1I, CSM1, CSM2)

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

AlphaFold DB: P17661

AlphaFold Link: https://alphafold.ebi.ac.uk/entry/P17661

HPA link: https://www.proteinatlas.org/ENSG00000175084-DES

Tissue specificity RNA from HPA: Tissue enhanced (heart muscle, intestine, skeletal muscle)

Tissue expression from HPA: Selective cytoplasmic expression in heart, skeletal and smooth muscle.

Single cell type specificity Cell type enriched (Cardiomyocytes)

Immune cell specificity: Not detected in immune cells

Subcellular summary HPA Located in Intermediate filaments

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

Pathology link: https://www.proteinatlas.org/ENSG00000175084-DES/pathology

Pathology endo: https://www.proteinatlas.org/ENSG00000175084-DES/pathology/endometrial+cancer

Phenotype ID: 601419;604765;181400;

Disease: Myopathy, myofibrillar, 1 (MFM1);Cardiomyopathy, dilated 1I (CMD1I);Neurogenic scapuloperoneal syndrome Kaeser type (Kaeser syndrome);

Note1: The disease is caused by variants affecting the gene represented in this entry. Mutations in the DES gene are associated with a variable clinical phenotype which encompasses isolated myopathies, pure cardiac phenotypes (including dilated cardiomyopathy, restrictive cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy), cardiac conduction disease, and combinations of these disorders. If both cardiologic and neurologic features occur, they can manifest in any order, as cardiologic features can precede, occur simultaneously with, or follow manifestation of generalized neuromuscular disease (PubMed:19879535);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: 125660

OMIM link1: https://www.omim.org/entry/601419;https://www.omim.org/entry/604765;https://www.omim.org/entry/181400;

OMIM link2: https://www.omim.org/entry/125660

HGNC ID: HGNC:2770

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2770