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: P63267

UniProt Link: https://www.uniprot.org/uniprotkb/P63267/entry

Molecular function from UniProt:

Tissue specificity from UniProt: In the intestine, abundantly expressed in smooth muscle cells of muscularis mucosa and muscularis propria. Also detected in intestinal vascular smooth muscle cells.

Subcellular UniProt: #Cytoplasm #Cytoskeleton

Alternative name from UniProt:

Cleaved: Cleaved into 1 chains Actin, gamma-enteric 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, gamma-enteric smooth muscle

Gene name from HGNC: ACTG2 (ACTA3, ACTL3, ACTSG)

HPA class: Disease related genes Human disease related genes

AlphaFold DB: P63267

AlphaFold Link: https://alphafold.ebi.ac.uk/entry/P63267

HPA link: https://www.proteinatlas.org/ENSG00000163017-ACTG2

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

Tissue expression from HPA: Cytoplasmic expression of myoepithelial cells.

Single cell type specificity Group enriched (Breast myoepithelial cells, Smooth muscle cells)

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

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

Pathology link: https://www.proteinatlas.org/ENSG00000163017-ACTG2/pathology

Pathology endo: https://www.proteinatlas.org/ENSG00000163017-ACTG2/pathology/endometrial+cancer

Phenotype ID: 155310;619431;

Disease: Visceral myopathy 1 (VSCM1);Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 (MMIHS5);

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;

Note2: A number sign (#) is used with this entry because of evidence that visceral myopathy-1 (VSCM1) is caused by heterozygous mutation in the ACTG2 gene (102545) on chromosome 2p13.;A number sign (#) is used with this entry because of evidence that megacystis-microcolon-intestinal hypoperistalsis syndrome-5 (MMIHS5) is caused by heterozygous mutation in the ACTG2 gene (102545) on chromosome 2p13. Visceral myopathy-1 (VSCM1; 155310), which overlaps phenotypically with MMIHS5, is also caused by heterozygous mutation in the ACTG2 gene.;

OMIM: 102545;155310;619431;

OMIM link1: https://www.omim.org/entry/155310;https://www.omim.org/entry/619431;

OMIM link2: https://www.omim.org/entry/102545;https://www.omim.org/entry/155310;https://www.omim.org/entry/619431;

Phenotype: Visceral myopathy 1;Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 ;

HGNC ID: HGNC:145

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:145