Biomarker: c-erb-B2

Histology type: endometrial carcinoma

Country: Greece

Region: Alexandroupolis

Followed up time :

Subgroup 1 name : overexpression

Subgroup 1 number: 47

Subgroup 2 name: Low expression

Subgroup 2 number: 73

Conclusion: These results indicate that c-erb-B2 is a specific marker of endometrial cancer. It is also an independent prognostic indicator of poor outcome. Cytoplasmic staining is as important as membranous staining, and is also a specific finding.

Sample type : tissue

Sample method: immunohistochemistry

Expression pattern : cytoplasmic positive expression

Expression elevation: overexpression, indicated by membranous and cytoplasmic staining of at least 10% of the tumor cells

Statictics: Range

Cohort age: 40-88

Funtion Uniprot: Protein tyrosine kinase that is part of several cell surface receptor complexes, but that apparently needs a coreceptor for ligand binding. Essential component of a neuregulin-receptor complex, although neuregulins do not interact with it alone. GP30 is a potential ligand for this receptor. Regulates outgrowth and stabilization of peripheral microtubules (MTs). Upon ERBB2 activation, the MEMO1-RHOA-DIAPH1 signaling pathway elicits the phosphorylation and thus the inhibition of GSK3B at cell membrane. This prevents the phosphorylation of APC and CLASP2, allowing its association with the cell membrane. In turn, membrane-bound APC allows the localization of MACF1 to the cell membrane, which is required for microtubule capture and stabilization.Curated In the nucleus is involved in transcriptional regulation. Associates with the 5'-TCAAATTC-3' sequence in the PTGS2/COX-2 promoter and activates its transcription. Implicated in transcriptional activation of CDKN1A; the function involves STAT3 and SRC. Involved in the transcription of rRNA genes by RNA Pol I and enhances protein synthesis and cell growth.3 Publications

UniProt ID: P04626

UniProt Link: https://www.uniprot.org/uniprotkb/P04626/entry

Biological function from UniProt: #Transcription #Transcription regulation

Molecular function from UniProt:

Tissue specificity from UniProt: Expressed in a variety of tumor tissues including primary breast tumors and tumors from small bowel, esophagus, kidney and mouth.

Subcellular UniProt: #Cell membrane #Cytoplasm #Endosome #Membrane #Nucleus

Alternative name from UniProt:

Catalytic activity: ATP + L-tyrosyl-[protein] = ADP + H+ + O-phospho-L-tyrosyl-[protein]

Activity regulation: Activated by dimerization. Not activated by EGF, TGF-alpha and amphiregulin. Interaction with PTK6 increases its intrinsic kinase activity.

Recommended name: Receptor tyrosine-protein kinase erbB-2

Gene name from HGNC: ERBB2 (CD340, HER-2, HER2, NEU, NGL)

CD antigen name: CD340

HPA class: Cancer-related genes CD markers Disease related genes Enzymes FDA approved drug targets Human disease related genes Metabolic proteins Plasma proteins

AlphaFold DB: P04626

AlphaFold Link: https://alphafold.ebi.ac.uk/entry/P04626

HPA link: https://www.proteinatlas.org/ENSG00000141736-ERBB2

Tissue specificity RNA from HPA: Low tissue specificity

Tissue expression from HPA: Cytoplasmic and membranous expression in several tissues.

Single cell type specificity Cell type enhanced (Collecting duct cells, Proximal enterocytes, Distal enterocytes)

Immune cell specificity: Immune cell enhanced (gdT-cell)

Subcellular summary HPA Located in Plasma membrane, Cytosol

Cancer prognostic summary HPA Prognostic marker in renal cancer (favorable), endometrial cancer (unfavorable) and pancreatic cancer (unfavorable)

Pathology link: https://www.proteinatlas.org/ENSG00000141736-ERBB2/pathology

Pathology endo: https://www.proteinatlas.org/ENSG00000141736-ERBB2/pathology/endometrial+cancer

Phenotype ID: 137800;167000;211980;613659;;619465

Disease: Glioma (GLM);Ovarian cancer (OC);Lung cancer (LNCR);Gastric cancer (GASC);No disease ID;Visceral neuropathy, familial, 2, autosomal recessive (VSCN2)

Note1: The gene represented in this entry is involved in disease pathogenesis; The gene represented in this entry is involved in disease pathogenesis;The gene represented in this entry is involved in disease pathogenesis;The protein represented in this entry is involved in disease pathogenesis;Chromosomal aberrations involving ERBB2 may be a cause gastric cancer. Deletions within 17q12 region producing fusion transcripts with CDK12, leading to CDK12-ERBB2 fusion leading to truncated CDK12 protein not in-frame with ERBB2; The disease is caused by variants affecting the gene represented in this entry;

OMIM: 164870

OMIM link1: https://www.omim.org/entry/137800;https://www.omim.org/entry/167000;https://www.omim.org/entry/211980;https://www.omim.org/entry/613659;;https://www.omim.org/entry/619465;

OMIM link2: https://www.omim.org/entry/164870

HGNC ID: HGNC:3430

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3430