Biomarker: RASSF1

Biomarker subtype: gene

Clinical application: prognosis(prognostic factor of endometrial carcinogenesis)

Histology type: benign tumor

Country: Slovakia

Region: Martin

Study type: prospective longitudinal study

Sample type : tissue

Clinical method: methylation-specific PCR (MSP)/bisulphidic modification technique

Expression pattern : methylation

Description: RASSF1 gene methylation could serve as a prognostic factor of endometrial carcinogenesis and could help to predict the behaviour of endometrial hyperplasia.

Approved symbol: RASSF1

Approved name: Ras association domain family member 1

Locus type: gene with protein product

HGNC ID: HGNC:9882

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9882

Symbol status: Approved

Alias symbols: NORE2A REH3P21 RDA32 123F2

OMIM: 605082

Omim link: https://www.omim.org/entry/605082

NCBI name: 11186

NCBI link: https://www.ncbi.nlm.nih.gov/gene/11186

Summary: This gene encodes a protein similar to the RAS effector proteins. Loss or altered expression of this gene has been associated with the pathogenesis of a variety of cancers, which suggests the tumor suppressor function of this gene. The inactivation of this gene was found to be correlated with the hypermethylation of its CpG-island promoter region. The encoded protein was found to interact with DNA repair protein XPA. The protein was also shown to inhibit the accumulation of cyclin D1, and thus induce cell cycle arrest. Several alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, May 2011]

Expression: Ubiquitous expression in bone marrow (RPKM 19.8), spleen (RPKM 15.6) and 25 other tissues

NCBI gene expression https://www.ncbi.nlm.nih.gov/gene/11186#gene-expression

PDB ID: Q9NS23

PDB link: https://www.ebi.ac.uk/pdbe/entry/search/index?uniprot_accession:(Q9NS23)