Biomarker: SMA

Histology type: benign tumor

Country: China

Region: Beijing

Study type: Comparative Study

Followed up time :

Subgroup 1 name : Positive in EST

Subgroup 1 number: 4

Subgroup 2 name: negative in EST

Subgroup 2 number: 17

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: 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