Biomarker: myocardin

Histology type: endometrial stromal tumor

Country: China

Region: Shanxi

Followed up time :

Subgroup 1 name : positive in uterine smooth muscle tumors( even in the regions with epithelioid features)

Subgroup 1 number: 39

Subgroup 2 name: negative

Subgroup 2 number: 0

Conclusion: Our study indicates that the myocardin is expressed in normal and neoplastic uterine smooth muscle cells sensitively and that the evaluation of myocardin expression is useful in distinguishing SMTs from ESSs.

Sample type : tissue

Sample method: immunohistochemistry

Expression pattern : expression

Expression elevation: The percentage of positive tumor cells (0, negative; 1+ , positivity in less than 5% of tumor cells; 2 + , positivity in 5% to 25% of tumor cells; 3 + , positivity in 26% to 50% of tumor cells; and 4 + , positivity in more than 50% of tumor cells) and the intensity of the staining (strong, moderate, weak) as the final results.

Funtion Uniprot: Smooth muscle cells (SM) and cardiac muscle cells-specific transcriptional factor which uses the canonical single or multiple CArG boxes DNA sequence. Acts as a cofactor of serum response factor (SRF) with the potential to modulate SRF-target genes. Plays a crucial role in cardiogenesis, urinary bladder development, and differentiation of the smooth muscle cell lineage (myogenesis) (By similarity).

UniProt ID: Q8IZQ8

UniProt Link: https://www.uniprot.org/uniprotkb/Q8IZQ8/entry

Biological function from UniProt: #Transcription #Transcription regulation

Molecular function from UniProt:

Tissue specificity from UniProt: Expressed in heart, aorta, and in smooth muscle cell-containing tissues: stomach, bladder, small intestine, colon, lung, placenta and uterus. Very faint expression in prostate and skeletal muscle.

Subcellular UniProt: #Nucleus

Recommended name: Myocardin

Gene name from HGNC: MYOCD (MYCD)

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

AlphaFold DB: Q8IZQ8

AlphaFold Link: https://alphafold.ebi.ac.uk/entry/Q8IZQ8

Induction: Up-regulated during heart failure

HPA link: https://www.proteinatlas.org/ENSG00000141052-MYOCD

Tissue specificity RNA from HPA: Tissue enhanced (intestine)

Tissue expression from HPA: Nuclear expression in all tissues.

Single cell type specificity Group enriched (Peritubular cells, Endometrial stromal cells, Cardiomyocytes, Smooth muscle cells, Sertoli cells)

Immune cell specificity: Not detected in immune cells

Subcellular summary HPA Located in Nucleoplasm

Cancer prognostic summary HPA Gene product is not prognostic

Pathology link: https://www.proteinatlas.org/ENSG00000141052-MYOCD/pathology

Pathology endo: https://www.proteinatlas.org/ENSG00000141052-MYOCD/pathology/endometrial+cancer

Phenotype ID: 618719

Disease: Megabladder, congenital (MGBL)

Note1: The disease may be caused by variants affecting the gene represented in this entry

Note2: A number sign (#) is used with this entry because of evidence that congenital megabladder (MGBL) is caused by heterozygous mutation in the MYOCD gene (606127) on chromosome 17p12.

OMIM: 606127;618719;

OMIM link1: https://www.omim.org/entry/618719

OMIM link2: https://www.omim.org/entry/606127;https://www.omim.org/entry/618719;

Phenotype: MEGABLADDER, CONGENITAL

HGNC ID: HGNC:16067

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16067