Biomarker: endoglin

Histology type: endometrial carcinoma

Stage: advanced stage

Region: Silesia

Followed up time :

Subgroup 1 name : endometrioid endometrial cancer

Subgroup 1 number: 45

Subgroup 2 name: without neoplastic changes control group

Subgroup 2 number: 15

Conclusion: Endoglin can be considered a valuable complementary molecular marker, allowing to visualize the advancement of the cancer process, including endometrial cancer.

Sample type : tissue

Sample method: immunohistochemistry

Expression pattern : expression(positively stained)

Expression elevation: The intensity of staining was measured as the optical density of the reaction product in each positively stained cell. The image analysis program NISAR (Nikon) was used to calculate the average optical density.

Funtion Uniprot: Vascular endothelium glycoprotein that plays an important role in the regulation of angiogenesis (PubMed:21737454, PubMed:23300529). Required for normal structure and integrity of adult vasculature (PubMed:7894484). Regulates the migration of vascular endothelial cells (PubMed:17540773). Required for normal extraembryonic angiogenesis and for embryonic heart development (By similarity). May regulate endothelial cell shape changes in response to blood flow, which drive vascular remodeling and establishment of normal vascular morphology during angiogenesis (By similarity). May play a critical role in the binding of endothelial cells to integrins and/or other RGD receptors (PubMed:1692830). Acts as TGF-beta coreceptor and is involved in the TGF-beta/BMP signaling cascade that ultimately leads to the activation of SMAD transcription factors (PubMed:8370410, PubMed:21737454, PubMed:22347366, PubMed:23300529). Required for GDF2/BMP9 signaling through SMAD1 in endothelial cells and modulates TGFB1 signaling through SMAD3 (PubMed:21737454, PubMed:22347366, PubMed:23300529)

UniProt ID: P17813

UniProt Link: https://www.uniprot.org/uniprotkb/P17813/entry

Molecular function from UniProt:

Tissue specificity from UniProt: Detected on umbilical veil endothelial cells (PubMed:10625079). Detected in placenta (at protein level) (PubMed:1692830). Detected on endothelial cells (PubMed:1692830).

Subcellular UniProt: #Cell membrane #Membrane

Recommended name: Endoglin

Gene name from HGNC: ENG (CD105, END, HHT1, ORW, ORW1)

CD antigen name: CD105

HPA class: Cancer-related genes Candidate cardiovascular disease genes CD markers Disease related genes Human disease related genes Plasma proteins

AlphaFold DB: P17813

AlphaFold Link: https://alphafold.ebi.ac.uk/entry/P17813

HPA link: https://www.proteinatlas.org/ENSG00000106991-ENG

Tissue specificity RNA from HPA: Tissue enhanced (heart muscle)

Tissue expression from HPA: Selective expression in endothelial cells and placental trophoblasts.

Single cell type specificity Cell type enhanced (Peritubular cells, Hepatic stellate cells, Endothelial cells, Leydig cells, Adipocytes, Syncytiotrophoblasts, Theca cells, Extravillous trophoblasts)

Immune cell specificity: Group enriched (intermediate monocyte, non-classical monocyte, classical monocyte, myeloid DC, NK-cell)

Subcellular summary HPA Located in Nuclear bodies, Plasma membrane (Single cell variability)

Cancer prognostic summary HPA Prognostic marker in liver cancer (favorable), renal cancer (unfavorable) and head and neck cancer (favorable)

Pathology link: https://www.proteinatlas.org/ENSG00000106991-ENG/pathology

Pathology endo: https://www.proteinatlas.org/ENSG00000106991-ENG/pathology/endometrial+cancer

Expression figure legend: expression of endoglin

Expression figure link: https://www.eurekaselect.com/article/94828

Phenotype ID: 187300

Disease: Telangiectasia, hereditary hemorrhagic, 1 (HHT1)

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

Note2: HHT TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER OSLER-RENDU-WEBER DISEASE ORW DISEASE

OMIM: 131195;187300;

OMIM link1: https://www.omim.org/entry/187300

OMIM link2: https://www.omim.org/entry/131195;

Phenotype: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1

HGNC ID: HGNC:3349

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3349