Biomarker: AR

Histology type: endometrial stromal tumor

Country: Korea

Region: Seoul

Followed up time :

Subgroup 1 name : positive

Subgroup 1 number: 30

Subgroup 2 name: negative

Subgroup 2 number: 21

Conclusion: Hormone receptors that showed strong expression deserve further evaluation to clarify their importance as a therapeutic target and predictor of treatment response.

Sample type : tissue

Sample method: immunohistochemistry,qRT-PCR

Expression pattern : expression

Expression elevation: To determine the intensity of the immunoreaction, a semi-quantitative scoring system was adopted, and the score was categorized from 0 to 3. The calculation was performed by multiplying this score by the percentage of the total stained width to obtain the final score (0–20 points, negative; 21–80, weakly positive [1+]; 81–180, moderately positive [2+]; and 181–300, strongly positive [3+]).

Statictics: cutoff<47;cutoff>47

Cohort age: 29;22

Funtion Uniprot: Steroid hormone receptors are ligand-activated transcription factors that regulate eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues (PubMed:19022849). Transcription factor activity is modulated by bound coactivator and corepressor proteins like ZBTB7A that recruits NCOR1 and NCOR2 to the androgen response elements/ARE on target genes, negatively regulating androgen receptor signaling and androgen-induced cell proliferation (PubMed:20812024). Transcription activation is also down-regulated by NR0B2. Activated, but not phosphorylated, by HIPK3 and ZIPK/DAPK310 Publications Isoform 3 Lacks the C-terminal ligand-binding domain and may therefore constitutively activate the transcription of a specific set of genes independently of steroid hormones.1 Publication Isoform 4 Lacks the C-terminal ligand-binding domain and may therefore constitutively activate the transcription of a specific set of genes independently of steroid hormones.

UniProt ID: P10275

UniProt Link: https://www.uniprot.org/uniprotkb/P10275/entry

Biological function from UniProt: Transcription, Transcription regulation

Molecular function from UniProt:

Tissue specificity from UniProt: Isoform 2 Mainly expressed in heart and skeletal muscle.;Isoform 3 Expressed in basal and stromal cells of the prostate (at protein level).;

Subcellular UniProt: #Cytoplasm #Nucleus

Alternative name from UniProt:

Cleaved: Had previously been shown to interact with PELP1. However this paper was retracted as cell-based data was viewed as unreliable.

Miscellaneous: In the absence of ligand, steroid hormone receptors are thought to be weakly associated with nuclear components; hormone binding greatly increases receptor affinity. The hormone-receptor complex appears to recognize discrete DNA sequences upstream of transcriptional start sites. Transcriptional activity is enhanced by binding to RANBP9. The level of tyrosine phosphorylation may serve as a diagnostic tool to predict patient outcome in response to hormone-ablation therapy. Inhibition of tyrosine phosphorylation may be an effective intervention target for hormone-refractory prostate cancer.

Catalytic activity: AIM-100 (4-amino-5,6-biaryl-furo[2,3-d]pyrimidine) suppresses TNK2-mediated phosphorylation at Tyr-269. Inhibits the binding of the Tyr-269 phosphorylated form to androgen-responsive enhancers (AREs) and its transcriptional activity.PMID: 20623637

Activity regulation: AIM-100 (4-amino-5,6-biaryl-furo[2,3-d]pyrimidine) suppresses TNK2-mediated phosphorylation at Tyr-269. Inhibits the binding of the Tyr-269 phosphorylated form to androgen-responsive enhancers (AREs) and its transcriptional activity

Recommended name: Androgen receptor

Gene name from HGNC: AR (AIS, DHTR, HUMARA, NR3C4, SBMA, SMAX1)

HPA class: Cancer-related genes Disease related genes FDA approved drug targets Human disease related genes Nuclear receptors Plasma proteins Transcription factors

AlphaFold DB: P10275

AlphaFold Link: https://alphafold.ebi.ac.uk/entry/P10275

HPA link: https://www.proteinatlas.org/ENSG00000169083-AR

Tissue specificity RNA from HPA: Tissue enhanced (liver)

Tissue expression from HPA: Nuclear expression in several tissues, mainly in reproductive organs.

Single cell type specificity Cell type enhanced (Hepatocytes, Granulosa cells, Breast glandular cells, Peritubular cells, Leydig cells, Skeletal myocytes)

Immune cell specificity: Not detected in immune cells

Subcellular summary HPA Located in Cytosol

Cancer prognostic summary HPA Prognostic marker in renal cancer (favorable) and liver cancer (favorable)

Pathology link: https://www.proteinatlas.org/ENSG00000169083-AR/pathology

Pathology endo: https://www.proteinatlas.org/ENSG00000169083-AR/pathology/endometrial+cancer

Phenotype ID: 300068

Disease: Androgen insensitivity syndrome (AIS);Spinal and bulbar muscular atrophy X-linked 1 (SMAX1);Androgen insensitivity, partial (PAIS);Hypospadias 1, X-linked (HYSP1);

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

OMIM: 313700

OMIM link1: https://www.omim.org/entry/300068

OMIM link2: https://www.omim.org/entry/313700

HGNC ID: HGNC:644

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:644