Biomarker: SMA

Histology type: endometrial stromal tumor

Country: China

Region: Xinjiang

Study type: retrospective study

Followed up time :

Subgroup 1 name : endometrial stromal tumor

Subgroup 1 number: 30

Subgroup 2 name: cellular leiomyoma

Subgroup 2 number: 33

Conclusion: IFITM1, CD10, SMA, and h-caldesmon are a good combination for the differential diagnosis of EST and CL.

Sample type : tissue

Sample method: immunohistochemical staining

Expression pattern : expression

Expression elevation: The extent of staining was evaluated as 0%, 0–25%, 26–50%, 51–75%, and 76–100%, and the intensity of staining as absent (0), weak (1+), moderate (2+), and strong (3+). When a different staining evaluation was used, the higher intensity score was used as the final score. The staining score was obtained by multiplying percentage with intensity and this score was used for our statistics analysis.

Statictics: Median;Range

Subgroup 1 age: 49.5 ;(27–73)

Subgroup 2 age: 41 ;(26–60)

Funtion Uniprot: Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.

UniProt ID: P62736

UniProt Link: https://www.uniprot.org/uniprotkb/P62736/entry

Molecular function from UniProt:

Subcellular UniProt: #Cytoplasm #Cytoskeleton

Alternative name from UniProt:

Cleaved: Cleaved into 1 chains Actin, aortic smooth muscle, intermediate form

Miscellaneous: In vertebrates 3 main groups of actin isoforms, alpha, beta and gamma have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins coexist in most cell types as components of the cytoskeleton and as mediators of internal cell motility.

Recommended name: Actin, aortic smooth muscle

Gene name from HGNC: ACTA2 (ACTSA)

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

AlphaFold DB: P62736

AlphaFold Link: https://alphafold.ebi.ac.uk/entry/P62736

Induction: Up-regulated in response to enterovirus 71 (EV71) infection.

HPA link: https://www.proteinatlas.org/ENSG00000107796-ACTA2

Tissue specificity RNA from HPA: Tissue enhanced (endometrium, seminal vesicle, smooth muscle)

Tissue expression from HPA: Selective expression in smooth muscle cells and myoepithelial cells.

Single cell type specificity Cell type enhanced (Peritubular cells, Sertoli cells, Smooth muscle cells, Breast myoepithelial cells)

Immune cell specificity: Immune cell enhanced (T-reg)

Subcellular summary HPA Located in Actin filaments

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

Pathology link: https://www.proteinatlas.org/ENSG00000107796-ACTA2/pathology

Pathology endo: https://www.proteinatlas.org/ENSG00000107796-ACTA2/pathology/endometrial+cancer

Phenotype ID: ;611788;614042;613834;

Disease: No disease ID;Aortic aneurysm, familial thoracic 6 (AAT6);Moyamoya disease 5 (MYMY5);Multisystemic smooth muscle dysfunction syndrome (MSMDS);

Note1: ACTA2 mutations predispose patients to a variety of diffuse and diverse vascular diseases, premature onset coronary artery disease (CAD), premature ischemic strokes and Moyamoya disease;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: 102620

OMIM link1: https://www.omim.org/entry/611788;https://www.omim.org/entry/614042;https://www.omim.org/entry/613834;

OMIM link2: https://www.omim.org/entry/102620

HGNC ID: HGNC:130

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:130