Biomarker: ANCCA

Histology type: endometrial carcinoma

Country: China

Region: Harbin

Followed up time :

Subgroup 1 name : Low

Subgroup 1 number: 48

Subgroup 2 name: High

Subgroup 2 number: 159

Conclusion: We identified ANCCA protein expression as a novel independent poor prognostic indicator in EC.

Sample type : tissue

Sample method: immunohistochemistry

Expression pattern : Overexpression( >3)

Expression elevation: The expression levels of ANCCA were classified semiquantitatively based on the total combined scores of the percentage of positively stained tumor cells together with the staining intensity. Based on the number of positive tumor cells, the staining was scored as follows: ‘0’ if 0 % of the tumor cells were positively stained, ‘1’ if 1 to 50 %, ‘2’ if 51 to 75 %, and ‘3’ if ≥76 % of the cells were positive. The staining intensity was scored as follows: score 1 (weak staining) and score 2 (strong staining) in at least five different high-power fields. The final score of ANCCA expression was defined as ‘low expression’ if the product of the positive score and the corresponding intensity score is ≤3 and ‘high expression’ if the product is >3.

Funtion Uniprot: Essential for mitochondrial network organization, mitochondrial metabolism and cell growth at organism and cellular level. May play an important role in mitochondrial protein synthesis. May also participate in mitochondrial DNA replication. May bind to mitochondrial DNA D-loops and contribute to nucleoid stability. Required for enhanced channeling of cholesterol for hormone-dependent steroidogenesis. Involved in mitochondrial-mediated antiviral innate immunity (PubMed:31522117).

UniProt ID: Q9NVI7

UniProt Link: https://www.uniprot.org/uniprotkb/Q9NVI7/entry

Molecular function from UniProt:

Tissue specificity from UniProt: Overexpressed in lung adenocarcinomas (at protein level).

Subcellular UniProt: #Membrane #Mitochondrion #Mitochondrion inner membrane #Mitochondrion nucleoid

Recommended name: ATPase family AAA domain-containing protein 3A

Gene name from HGNC: ATAD2 (ANCCA, CT137, DKFZp667N1320, MGC29843, MGC5254, PRO2000)

AlphaFold DB: Q9NVI7

AlphaFold Link: https://alphafold.ebi.ac.uk/entry/Q9NVI7

Induction: Up-regulated by AngiotensiGT

HPA link: https://www.proteinatlas.org/ENSG00000156802-ATAD2

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

Tissue expression from HPA: Nuclear expression in proliferating cells.

Single cell type specificity Cell type enhanced (Spermatocytes, Spermatogonia, Erythroid cells)

Immune cell specificity: Low immune cell specificity

Subcellular summary HPA Located in Nucleoplasm (Single cell variability, CCD Protein, CCD Transcript)

Cancer prognostic summary HPA Prognostic marker in renal cancer (unfavorable) and endometrial cancer (unfavorable)

Pathology link: https://www.proteinatlas.org/ENSG00000156802-ATAD2/pathology

Pathology endo: https://www.proteinatlas.org/ENSG00000156802-ATAD2/pathology/endometrial+cancer

Phenotype ID: 617183；618810

Disease: Harel-Yoon syndrome (HAYOS)；Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL)

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

OMIM: 612316

OMIM link1: https://www.omim.org/entry/617183；https://www.omim.org/entry/618810

OMIM link2: https://www.omim.org/entry/612316

HGNC ID: HGNC:18116

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18116