Biomarker: SOX17

Histology type: endometrial cancer

Country: USA

Region: Ohio State

Followed up time :

Conclusion: In summary, our results demonstrate that SOX17 is a sensitive and specific marker for ovarian nonmucinous carcinomas and endometrial carcinomas.

Sample type : tissues

Sample method: immunohistochemistry

Expression pattern : upregulated

Funtion Uniprot: Acts as transcription regulator that binds target promoter DNA and bends the DNA. Binds to the sequences 5'-AACAAT-'3 or 5'-AACAAAG-3'. Modulates transcriptional regulation via WNT3A. Inhibits Wnt signaling. Promotes degradation of activated CTNNB1. Plays a key role in the regulation of embryonic development. Required for normal development of the definitive gut endoderm. Required for normal looping of the embryonic heart tube. Plays an important role in embryonic and postnatal vascular development, including development of arteries. Plays an important role in postnatal angiogenesis, where it is functionally redundant with SOX18. Required for the generation and maintenance of fetal hematopoietic stem cells, and for fetal hematopoiesis. Probable transcriptional activator in the premeiotic germ cells

UniProt ID: Q9H6I2

UniProt Link: https://www.uniprot.org/uniprotkb/Q9H6I2/entry

Biological function from UniProt: Transcription, Transcription regulation, Wnt signaling pathway

Molecular function from UniProt:

Tissue specificity from UniProt: Expressed in adult heart, lung, spleen, testis, ovary, placenta, fetal lung, and kidney. In normal gastrointestinal tract, it is preferentially expressed in esophagus, stomach and small intestine than in colon and rectum

Subcellular UniProt: #Nucleus

Recommended name: Transcription factor SOX-17

Gene name from HGNC: SOX17

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

AlphaFold DB: Q9H6I2

AlphaFold Link: https://alphafold.ebi.ac.uk/entry/Q9H6I2

HPA link: https://www.proteinatlas.org/ENSG00000164736-SOX17

Tissue specificity RNA from HPA: Tissue enhanced (adipose tissue)

Tissue expression from HPA: Abundant nuclear expression in reproductive tissues and gastrointestinal tract.

Single cell type specificity Group enriched (Glandular and luminal cells, Adipocytes, Endometrial ciliated cells, Endothelial cells)

Immune cell specificity: Not detected in immune cells

Subcellular summary HPA #Nucleus

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

Pathology link: https://www.proteinatlas.org/ENSG00000164736-SOX17/pathology

Pathology endo: https://www.proteinatlas.org/ENSG00000164736-SOX17/pathology/endometrial+cancer;

Phenotype ID: 613674

Disease: Vesicoureteral reflux 3 (VUR3)

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

OMIM: 610928

OMIM link1: https://www.omim.org/entry/613674

OMIM link2: https://www.omim.org/entry/610928

HGNC ID: HGNC:18122

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18122