Biomarker: HMGA2

Histology type: endometrial serous carcinomas

Country: Spain

Region: Lleida

Followed up time :

Subgroup 1 name : EEC

Subgroup 1 number: 57

Subgroup 2 name: SC

Subgroup 2 number: 31

Conclusion: We propose an internally and externally validated 9-protein biomarker signature to predict the histologic type of EC (EEC or SC) by IHC. The results also suggest that mixed EEC-SC is molecularly ambiguous.

Sample type : tissue

Sample method: immunohistochemistry (IHC)

Expression pattern : HMGA2 ≥ 30

Expression elevation: IHC staining was graded semiquantitatively by considering the percentage and intensity of the staining. A histologic score (Hs) was obtained from each sample, and values ranged from 0 (no immunoreaction) to 300 (maximum immunoreactivity). The score was obtained by applying the following formula, Hs = 1 × (% light staining) + 2 × (% moderate staining) + 3 × (% strong staining). Scoring was independently performed by 2 of the authors (M. S. and O. M.). Interobserver agreement between these 2 authors was assessed by Cohen κ concordance measure, considering all the intervals in Hs range (0-300) at each 10 units, and with Pearson linear correlation.

Funtion Uniprot: Functions as a transcriptional regulator. Functions in cell cycle regulation through CCNA2. Plays an important role in chromosome condensation during the meiotic G2/M transition of spermatocytes. Plays a role in postnatal myogenesis, is involved in satellite cell activation (By similarity). Positively regulates IGF2 expression through PLAG1 and in a PLAG1-independent manner (PubMed:28796236).

UniProt ID: P52926

UniProt Link: https://www.uniprot.org/uniprotkb/P52926/entry

Biological function from UniProt: #Cell cycle #Cell division #DNA condensation #Growth regulation #Mitosis

Molecular function from UniProt:

Tissue specificity from UniProt: Expressed predominantly during embryogenesis.

Subcellular UniProt: #Nucleus

Alternative name from UniProt:

Recommended name: High mobility group protein HMGI-C

Gene name from HGNC: HMGA2 (BABL, HMGIC, LIPO)

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

AlphaFold DB: P52926

AlphaFold Link: https://alphafold.ebi.ac.uk/entry/P52926

HPA link: https://www.proteinatlas.org/ENSG00000149948-HMGA2

Tissue specificity RNA from HPA: Tissue enhanced (bone marrow, testis)

Tissue expression from HPA: Nuclear expression in most tissues.

Single cell type specificity Cell type enhanced (Smooth muscle cells, Granulosa cells, Pancreatic endocrine cells, Early spermatids, Glandular and luminal cells, Basal respiratory cells)

Immune cell specificity: Immune cell enhanced (basophil)

Subcellular summary HPA Located in Nucleoplasm, Nucleoli, Nucleoli rim (Single cell variability)

Cancer prognostic summary HPA Prognostic marker in urothelial cancer (unfavorable) and head and neck cancer (unfavorable)

Pathology link: https://www.proteinatlas.org/ENSG00000149948-HMGA2/pathology

Pathology endo: https://www.proteinatlas.org/ENSG00000149948-HMGA2/pathology/endometrial+cancer

Phenotype ID: 618908

Disease: Silver-Russell syndrome 5 (SRS5)

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

OMIM: 600698

OMIM link1: https://www.omim.org/entry/618908

OMIM link2: https://www.omim.org/entry/600698

HGNC ID: HGNC:5009

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5009