Biomarker: Smad7

Biomarker subtype: gene

Clinical application: prognosis(unfavorable)

Histology type: endometrial carcinoma

Country: USA

Region: MN?

Followed up time : median follow-up 43 months

Protocol age: 20;19

Control age: 51;49

Sample type : tissue

Clinical method: quantitative real-time PCR,immunohistochemistry

Expression pattern : Overexpression

Expression elevation: A grading score was obtained by multiplying the percentage of cells staining by the grading intensity (from 0 to 3+) as described

Statictics: cutoff<60;cutoff>60

Protocol age: 20;19

Control age: 51;49

Description: Smad7 appears to be upregulated in endometrial cancers compared to normal endometrium. Furthermore, high Smad7 gene expression was associated with a shorter time to recurrence. Given that many endometrial cancers have been shown to be TGF-beta-unresponsive, Smad7 should be investigated as a potential target to restore TGF-beta responsiveness and limit tumor growth.

Approved symbol: SMAD7

Approved name: SMAD family member 7

Locus type: gene with protein product

HGNC ID: HGNC:6773

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6773

Symbol status: Approved

Previous symbols: MADH8 MADH7

Alternative gene group name: Mother against Dpp (MAD) homology (MH) domain transcription factors"

OMIM: 602932

Omim link: https://www.omim.org/entry/602932

NCBI name: 4092

NCBI link: https://www.ncbi.nlm.nih.gov/gene/4092

Summary: The protein encoded by this gene is a nuclear protein that binds the E3 ubiquitin ligase SMURF2. Upon binding, this complex translocates to the cytoplasm, where it interacts with TGF-beta receptor type-1 (TGFBR1), leading to the degradation of both the encoded protein and TGFBR1. Expression of this gene is induced by TGFBR1. Variations in this gene are a cause of susceptibility to colorectal cancer type 3 (CRCS3). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

Expression: Ubiquitous expression in lung (RPKM 15.3), placenta (RPKM 11.2) and 25 other tissues

NCBI gene expression https://www.ncbi.nlm.nih.gov/gene/4092#gene-expression

PDB ID: O15105

PDB link: https://www.ebi.ac.uk/pdbe/entry/search/index/?searchParams=%7B%22q_uniprot%22:%5B%7B%22value%22:%22(O15105)%22,%22condition1%22:%22AND%22,%22condition2%22:%22Contains%22%7D%5D,%22resultState%22:%7B%22tabIndex%22:0,%22paginationIndex%22:1,%22perPage%22:%2210%22,%22sortBy%22:%22Sort%20by%22%7D%7D

BP term ID: GO:1902761$GO:1903041$GO:1903043

BP term name: positive regulation of chondrocyte development$regulation of chondrocyte hypertrophy$positive regulation of chondrocyte hypertrophy

Source description: WP$ CORUM

Term ID: WP:WP3924$CORUM:2992$CORUM:2996

Term name: Hfe effect on hepcidin production$ Ubiquitin E3 ligase (SMAD7, SMURF2)$Ubiquitin E3 ligase (SMAD7, SMURF1)