Biomarker: H19

Biomarker subtype: gene

Clinical application: diagnosis(MT-EC(containing endometrioid and serous differentiation))

Histology type: rare type

Country: USA

Region: Los Angeles

Sample type : tissue

Clinical method: Immunohistochemistry,Sample selection and RNA extraction,Gene expression analysis,

Expression pattern : differentially expressed

Description: Novel specific markers of MT-EC could be of diagnostic utility and could represent novel therapeutic targets in the future.

Expression figure legend: H&E stained sections of USC and EAC region within an MT-EC (Patient 5).

Expression figure link: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4488511/figure/pone.0130909.g001/

Approved symbol: H19

Approved name: H19 imprinted maternally expressed transcript

Locus type: RNA, long non-coding

HGNC ID: HGNC:4713

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4713

Symbol status: Approved

Alias symbols: D11S813E ASM ASM1 NCRNA00008 LINC00008 MIR675HG

Subgroup: Long non-coding RNAs|"Long non-coding RNAs", "MicroRNA host genes"

OMIM: 103280

Omim link: https://www.omim.org/entry/103280

NCBI name: 283120

NCBI link: https://www.ncbi.nlm.nih.gov/gene/283120

Summary: This gene is located in an imprinted region of chromosome 11 near the insulin-like growth factor 2 (IGF2) gene. This gene is only expressed from the maternally-inherited chromosome, whereas IGF2 is only expressed from the paternally-inherited chromosome. The product of this gene is a long non-coding RNA which functions as a tumor suppressor. Mutations in this gene have been associated with Beckwith-Wiedemann Syndrome and Wilms tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

Expression: Biased expression in placenta (RPKM 2773.7), adrenal (RPKM 234.1) and 2 other tissues

NCBI gene expression https://www.ncbi.nlm.nih.gov/gene/283120#gene-expression