Biomarker: KGFR

Histology type: endometrial carcinoma

Country: Italy

Region: Roma

Study type: Comparative Study

Followed up time :

Subgroup 1 name : positive

Subgroup 1 number: 12

Subgroup 2 name: negative

Subgroup 2 number: 6

Conclusion: Taken together;these observations suggest that KGFR may represent an additional prognostic indicator in endometrial cancer.

Sample type : tissue

Sample method: immunohistochemistry/Western blot analysis

Expression pattern : overexpression

Statictics: Range

Cohort age: 40-84

Funtion Uniprot: Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation, migration and apoptosis, and in the regulation of embryonic development. Required for normal embryonic patterning, trophoblast function, limb bud development, lung morphogenesis, osteogenesis and skin development. Plays an essential role in the regulation of osteoblast differentiation, proliferation and apoptosis, and is required for normal skeleton development. Promotes cell proliferation in keratinocytes and immature osteoblasts, but promotes apoptosis in differentiated osteoblasts. Phosphorylates PLCG1, FRS2 and PAK4. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. FGFR2 signaling is down-regulated by ubiquitination, internalization and degradation. Mutations that lead to constitutive kinase activation or impair normal FGFR2 maturation, internalization and degradation lead to aberrant signaling. Over-expressed FGFR2 promotes activation of STAT1.

UniProt ID: P21802

UniProt Link: https://www.uniprot.org/uniprotkb/P21802/entry

Biological function from UniProt: #Apoptosis

Molecular function from UniProt:

Subcellular UniProt: #Cell membrane #Cytoplasmic vesicle #Golgi apparatus #Membrane #Secreted

Alternative name from UniProt:

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

Activity regulation: Present in an inactive conformation in the absence of bound ligand. Ligand binding leads to dimerization and activation by autophosphorylation on tyrosine residues. Inhibited by ARQ 523 and ARQ 069; these compounds maintain the kinase in an inactive conformation and inhibit autophosphorylation.

Recommended name: Fibroblast growth factor receptor 2

Gene name from HGNC: FGFR2 (BEK, CD332, CEK3, CFD1, ECT1, JWS, K-SAM, KGFR, TK14, TK25)

CD antigen name: CD332

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

AlphaFold DB: P21802

AlphaFold Link: https://alphafold.ebi.ac.uk/entry/P21802

HPA link: https://www.proteinatlas.org/ENSG00000066468-FGFR2

Tissue specificity RNA from HPA: Tissue enhanced (brain, choroid plexus)

Tissue expression from HPA: General cytoplasmic expression.

Single cell type specificity Group enriched (Oligodendrocytes, Astrocytes, Cholangiocytes)

Immune cell specificity: Group enriched (basophil, eosinophil)

Subcellular summary HPA Located in Nucleoplasm, Vesicles, Cell Junctions

Cancer prognostic summary HPA Prognostic marker in cervical cancer (favorable) and head and neck cancer (favorable)

Pathology link: https://www.proteinatlas.org/ENSG00000066468-FGFR2/pathology

Pathology endo: https://www.proteinatlas.org/ENSG00000066468-FGFR2/pathology/endometrial+cancer

Phenotype ID: 123500;123150;101200;101600;123790;609579;149730; 207410; 614592;101400;

Disease: Crouzon syndrome (CS);Jackson-Weiss syndrome (JWS);Apert syndrome (APRS);Pfeiffer syndrome (PS);Beare-Stevenson cutis gyrata syndrome (BSTVS);Familial scaphocephaly syndrome (FSPC);Lacrimo-auriculo-dento-digital syndrome (LADDS);Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis (ABS2);Bent bone dysplasia syndrome (BBDS) ;Saethre-Chotzen syndrome (SCS) ;

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;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;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;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;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;

OMIM link1: https://www.omim.org/entry/123500;https://www.omim.org/entry/123150;https://www.omim.org/entry/101200;https://www.omim.org/entry/101600;https://www.omim.org/entry/123790; https://www.omim.org/entry/609579;https://www.omim.org/entry/149730;https://www.omim.org/entry/207410;https://www.omim.org/entry/614592; https://www.omim.org/entry/101400 ;

HGNC ID: HGNC:3689

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3689