Biomarker: beta-catenin

Histology type: endometrial stromal tumor

Stage: low grade

Country: Korea

Region: Seoul

Study type: retrospective study

Followed up time :

Subgroup 1 name : nuclear beta-catenin immunostaining positive

Subgroup 1 number: 17

Subgroup 2 name: nuclear beta-catenin immunostaining negative

Subgroup 2 number: 3

Conclusion: Taken together, these results indicate that nuclear beta-catenin immunostaining can serve as a sensitive immunohistochemical marker for the diagnosis of endometrial stromal tumors and is useful for differentiating low-grade endometrial stromal sarcomas from uterine cellular leiomyomata.

Sample type : tissue

Sample method: immunohistochemistry

Expression pattern : exon 3

Expression elevation: The degree of immunoreactivity for b-catenin was evaluated semi-quantitatively on the basis of staining intensity and the percentage of positive cells, as described previously.10 The staining intensity was classified as negative, weak, moderate or strong expression. The staining percentage was classified as focal or diffuse using 50% as a cutoff point.

Funtion Uniprot: Key downstream component of the canonical Wnt signaling pathway (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:18957423, PubMed:21262353, PubMed:22155184, PubMed:22647378, PubMed:22699938). In the absence of Wnt, forms a complex with AXIN1, AXIN2, APC, CSNK1A1 and GSK3B that promotes phosphorylation on N-terminal Ser and Thr residues and ubiquitination of CTNNB1 via BTRC and its subsequent degradation by the proteasome (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:18957423, PubMed:21262353, PubMed:22155184, PubMed:22647378, PubMed:22699938). In the presence of Wnt ligand, CTNNB1 is not ubiquitinated and accumulates in the nucleus, where it acts as a coactivator for transcription factors of the TCF/LEF family, leading to activate Wnt responsive genes (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:18957423, PubMed:21262353, PubMed:22155184, PubMed:22647378, PubMed:22699938). Involved in the regulation of cell adhesion, as component of an E-cadherin:catenin adhesion complex (By similarity). Acts as a negative regulator of centrosome cohesion (PubMed:18086858). Involved in the CDK2/PTPN6/CTNNB1/CEACAM1 pathway of insulin internalization (PubMed:21262353). Blocks anoikis of malignant kidney and intestinal epithelial cells and promotes their anchorage-independent growth by down-regulating DAPK2 (PubMed:18957423). Disrupts PML function and PML-NB formation by inhibiting RANBP2-mediated sumoylation of PML (PubMed:22155184). Promotes neurogenesis by maintaining sympathetic neuroblasts within the cell cycle (By similarity). Involved in chondrocyte differentiation via interaction with SOX9: SOX9-binding competes with the binding sites of TCF/LEF within CTNNB1, thereby inhibiting the Wnt signaling (By similarity).

UniProt ID: P35222

UniProt Link: https://www.uniprot.org/uniprotkb/P35222/entry

Biological function from UniProt: #Cell adhesion #Host-virus interaction #Neurogenesis #Transcription #Transcription regulation #Wnt signaling pathway

Molecular function from UniProt:

Tissue specificity from UniProt: Expressed in several hair follicle cell types: basal and peripheral matrix cells, and cells of the outer and inner root sheaths. Expressed in colon. Present in cortical neurons (at protein level). Expressed in breast cancer tissues (at protein level) (PubMed:29367600).

Subcellular UniProt: #Cell junction #Cell membrane #Cell projection #Cytoplasm #Cytoskeleton

Alternative name from UniProt:

Caution: A paper showing an interaction with TBP and phosphorylation at Tyr-86 and Tyr-654 has been retracted due to panel duplication in several figures.

Recommended name: Catenin beta-1

Gene name from HGNC: CTNNB1 (armadillo, beta-catenin, CTNNB)

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

AlphaFold DB: P35222

AlphaFold Link: https://alphafold.ebi.ac.uk/entry/P35222

HPA link: https://www.proteinatlas.org/ENSG00000168036-CTNNB1

Tissue specificity RNA from HPA: Low tissue specificity

Tissue expression from HPA: Membranous expression in most tissues.

Single cell type specificity Cell type enhanced (Syncytiotrophoblasts)

Immune cell specificity: Low immune cell specificity

Subcellular summary HPA Located in Plasma membrane

Cancer prognostic summary HPA Prognostic marker in colorectal cancer (favorable)

Pathology link: https://www.proteinatlas.org/ENSG00000168036-CTNNB1/pathology

Pathology endo: https://www.proteinatlas.org/ENSG00000168036-CTNNB1/pathology/endometrial+cancer

Phenotype ID: 114500;;132600;155255;167000;156240;615075;617572;

Disease: Colorectal cancer (CRC);No disease ID;Pilomatrixoma (PTR);Medulloblastoma (MDB);Ovarian cancer (OC);No disease ID;Mesothelioma, malignant (MESOM);Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV);Vitreoretinopathy, exudative 7 (EVR7);

Note1: The gene represented in this entry may be involved in disease pathogenesis;Activating mutations in CTNNB1 have oncogenic activity resulting in tumor development. Somatic mutations are found in various tumor types, including colon cancers, ovarian and prostate carcinomas, hepatoblastoma (HB), hepatocellular carcinoma (HCC). HBs are malignant embryonal tumors mainly affecting young children in the first three years of life;The gene represented in this entry is involved in disease pathogenesis;The gene represented in this entry may be involved in disease pathogenesis;Disease susceptibility is associated with variants affecting the gene represented in this entry;A chromosomal aberration involving CTNNB1 is found in salivary gland pleiomorphic adenomas, the most common benign epithelial tumors of the salivary gland. Translocation t(3;8)(p21;q12) with PLAG1;The gene represented in this entry may be involved in disease pathogenesis;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; ;An aggressive neoplasm of the serosal lining of the chest. It appears as broad sheets of cells, with some regions containing spindle-shaped, sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos.;An autosomal dominant disorder characterized by global developmental delay, severe intellectual disability with absent or very limited speech, microcephaly, spasticity, and visual abnormalities.;A form of exudative vitreoretinopathy, a disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery.;

OMIM: 116806

OMIM link1: https://www.omim.org/entry/114500;;https://www.omim.org/entry/132600;https://www.omim.org/entry/132600;https://www.omim.org/entry/155255;https://www.omim.org/entry/155255;https://www.omim.org/entry/167000;https://www.omim.org/entry/156240;https://www.omim.org/entry/615075;https://www.omim.org/entry/617572;

OMIM link2: https://www.omim.org/entry/116806

HGNC ID: HGNC:2514

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2514