Biomarker: Mad2

Histology type: endometrial carcinoma

Country: China

Region: Shandong

Study type: retrospective study

Followed up time :

Subgroup 1 name : negative in endometrial hyperplasia

Subgroup 1 number: 13

Subgroup 2 name: positive in endometrial hyperplasia

Subgroup 2 number: 17

Conclusion: The combination analysis of Bub1 and Mad2 might be the valuable prognostic clinicopathologic factor which can be applicable in routine examination.

Sample type : tissue

Sample method: indirect streptavidin-biotin-peroxidase complex method

Expression pattern : Bub1 negative and Mad2 positive

Expression elevation: Immunohistochemical staining was scored as follows: -, no positive staining or lower than 10 %;+, 11- 30 % positive staining; ++, 31-50 % positive staining;+++, positive staining more than 50 %.

Funtion Uniprot: Component of the spindle-assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate (PubMed:29162720, PubMed:15024386). In the closed conformation (C-MAD2) forms a heterotetrameric complex with MAD1L1 at unattached kinetochores during prometaphase, the complex recruits open conformation molecules of MAD2L1 (O-MAD2) and then promotes the conversion of O-MAD2 to C-MAD2 (PubMed:29162720). Required for the execution of the mitotic checkpoint which monitors the process of kinetochore-spindle attachment and inhibits the activity of the anaphase promoting complex by sequestering CDC20 until all chromosomes are aligned at the metaphase plate (PubMed:10700282, PubMed:11804586, PubMed:15024386).

UniProt ID: Q13257

UniProt Link: https://www.uniprot.org/uniprotkb/Q13257/entry

Biological function from UniProt: #Cell cycle #Cell division #Mitosis

Molecular function from UniProt:

Subcellular UniProt: #Centromere #Chromosome #Cytoplasm #Cytoskeleton #Kinetochore #Nucleus

Alternative name from UniProt:

Recommended name: Mitotic spindle assembly checkpoint protein MAD2A

Gene name from HGNC: MAD2L1 (HSMAD2, MAD2)

HPA class: Cancer-related genes Plasma proteins

AlphaFold DB: Q13257

AlphaFold Link: https://alphafold.ebi.ac.uk/entry/Q13257

HPA link: https://www.proteinatlas.org/ENSG00000164109-MAD2L1

Tissue specificity RNA from HPA: Non-specific - Cell cycle regulation (mainly)

Tissue expression from HPA: Estimation of protein expression could not be performed. View primary data.

Single cell type specificity Non-specific - Cell cycle regulation (mainly)

Immune cell specificity: Low immune cell specificity

Subcellular summary HPA Located in Nucleoplasm (CCD Transcript)

Cancer prognostic summary HPA Prognostic marker in renal cancer (unfavorable), liver cancer (unfavorable) and lung cancer (unfavorable)

Pathology link: https://www.proteinatlas.org/ENSG00000164109-MAD2L1/pathology

Pathology endo: https://www.proteinatlas.org/ENSG00000164109-MAD2L1/pathology/endometrial+cancer

OMIM: 601467

OMIM link2: https://www.omim.org/entry/601467

HGNC ID: HGNC:6763

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6763