Biomarker: HMGA2

Histology type: endometrial serous carcinomas

Country: Northern Ireland

Region: Belfast

Followed up time :

Conclusion: HMGA2 is commonly expressed in uterine serous carcinomas and is a useful adjunct to diagnosis.

Sample type : tissue

Sample method: immunohistochemisty

Expression pattern : positive

Expression elevation: Staining was classified as negative (totally negative or occasional nuclei positive), 1+ (<10% of nuclei positive), 2+ (10-49% of nuclei positive), 3+ (50-74% of nuclei positive), or 4+ (≥75% of nuclei positive).On the whole tissue sections, positive staining was also classified as weak, moderate, or strong, and an immunohistochemical composite score, taking into account both extent and intensity of staining, was calculated.

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