PGR (Progesterone Receptor) Gene
A key nuclear receptor regulating female reproductive physiology and a target in breast and gynecological cancers.
Gene Information Card
| Symbol | PGR |
|---|---|
| Full Name | progesterone receptor |
| Gene Type | protein coding |
| Chromosomal Location | 11q22.1 |
| NCBI Gene ID | 5241 ncbi.nlm.nih.gov/gene/5241 |
| Ensembl ID | ENSG00000082175 |
| UniProt ID | P06401 |
| OMIM ID | 607311 |
| HGNC ID | 8910 |
| Aliases | NR3C3; PR; Progesterone receptor |
Description
The PGR gene encodes the progesterone receptor, a member of the nuclear receptor superfamily of steroid hormone-activated transcription factors. It mediates the physiological effects of progesterone, playing critical roles in female reproductive development, menstrual cycle regulation, and pregnancy maintenance. The receptor functions as a ligand-activated transcription factor, regulating the expression of target genes involved in cell proliferation, differentiation, and apoptosis. Alternative splicing generates multiple isoforms (e.g., PGR-A and PGR-B) with distinct transcriptional activities. PGR is a key biomarker in breast cancer, where its expression guides hormonal therapy decisions, and mutations or altered expression are linked to various reproductive and malignant conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | PGR expression is a prognostic and predictive marker; loss of expression correlates with more aggressive tumors and resistance to endocrine therapy. Somatic mutations in PGR are rare but can alter receptor activity. | ClinVar; COSMIC; multiple studies |
| Endometrial Cancer | PGR mutations and altered expression are associated with endometrial carcinogenesis; loss of PGR expression is linked to poor differentiation and worse prognosis. | ClinVar; COSMIC |
| Progesterone Resistance / Recurrent Pregnancy Loss | Certain PGR polymorphisms and mutations may impair receptor function, contributing to progesterone resistance and pregnancy complications. | ClinVar; OMIM |
| Uterine Leiomyoma (Fibroids) | PGR expression is dysregulated in uterine fibroids, with altered isoform ratios contributing to tumor growth. | COSMIC; literature |
| Ovarian Cancer | PGR expression is often reduced in high-grade serous ovarian cancer; mutations are infrequent but may affect signaling. | COSMIC; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Breast | Not available (nTPM not provided by GTEx; PGR expression is tissue-specific and hormone-dependent) | Not specified |
| Uterus | Not available (nTPM not provided by GTEx; high expression in endometrium) | Not specified |
| Ovary | Not available (nTPM not provided by GTEx; moderate expression) | Not specified |
| Fallopian Tube | Not available (nTPM not provided by GTEx; expression present) | Not specified |
| Placenta | Not available (nTPM not provided by GTEx; expression present) | Not specified |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (Breast cancer) | Not available (nTPM not provided; PGR is expressed in ER+ breast cancer cell lines) | PGR expression is induced by estrogen; used as a model for hormone-responsive breast cancer |
| T47D (Breast cancer) | Not available (nTPM not provided; high PGR expression) | Commonly used for progesterone receptor studies |
| Ishikawa (Endometrial cancer) | Not available (nTPM not provided; PGR expression present) | Used to study endometrial cancer hormone signaling |
| HEC-1A (Endometrial cancer) | Not available (nTPM not provided; low PGR expression) | Represents PGR-negative endometrial cancer |
| LNCaP (Prostate cancer) | Not available (nTPM not provided; PGR expression is low/absent) | Not a typical PGR-expressing line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1000C>T (p.Arg334Ter) | Nonsense | Rare (not well-defined) | Truncated protein, likely loss of function; associated with progesterone resistance |
| c.1970C>T (p.Pro657Leu) | Missense | Rare (not well-defined) | May affect ligand binding or transactivation; reported in cancer samples |
| c.2260G>A (p.Val754Met) | Missense | Rare (not well-defined) | Potential impact on receptor stability; observed in endometrial cancer |
| c.2308C>T (p.Arg770Trp) | Missense | Rare (not well-defined) | Alters DNA-binding domain; may affect transcriptional activity |
| c.2542G>A (p.Val848Met) | Missense | Rare (not well-defined) | Located in ligand-binding domain; may affect hormone response |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the receptor, leading to reduced or absent protein function, impairing progesterone signaling.
Gain of Function (GOF)
Rare missense mutations that enhance receptor activity or alter cofactor recruitment, potentially promoting aberrant cell proliferation.
Dominant Negative (DN)
Certain mutations may produce receptors that interfere with wild-type PGR function, especially in heterozygous states, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • steroid hormone receptor activity | • progesterone binding |
| • zinc ion binding | • nuclear receptor activity |
| • transcription coregulator binding | • protein homodimerization activity |
| • chromatin binding | • sequence-specific DNA binding |
Pathways
• Progesterone-mediated oocyte maturation
• Estrogen signaling pathway
• Nuclear receptor transcription pathway
• Steroid hormone biosynthesis
• Pathways in cancer
• Breast cancer pathway
• Endometrial cancer pathway
Protein Summary
The progesterone receptor (PR) is a 99 kDa nuclear receptor that exists as two main isoforms, PR-A and PR-B, generated from alternative transcription start sites. PR-A and PR-B are identical except for an additional 164 amino acids at the N-terminus of PR-B. Upon progesterone binding, the receptor undergoes conformational changes, dimerizes, and translocates to the nucleus, where it binds to progesterone response elements (PREs) in target gene promoters, recruiting coactivators or corepressors to modulate transcription. PR also interacts with other signaling pathways, including growth factor cascades, and can exert rapid non-genomic effects via cytoplasmic signaling. The receptor is essential for reproductive tissue development and function, and its expression is a critical determinant in hormone-dependent cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PGR Knockout HEK293 Cell Line | EDJ-KQ3386 | Human | 5241 | Details Get a Quote |
| RPGR Knockout HEK293 Cell Line | EDJ-KQ5686 | Human | 6103 | Details Get a Quote |
| PGRMC2 Knockout HEK293 Cell Line | EDJ-KQ7042 | Human | 10424 | Details Get a Quote |
| PGRMC1 Knockout HEK293 Cell Line | EDJ-KQ7190 | Human | 10857 | Details Get a Quote |
| RPGRIP1L Knockout HEK293 Cell Line | EDJ-KQ7963 | Human | 23322 | Details Get a Quote |
| RPGRIP1 Knockout HEK293 Cell Line | EDJ-KQ15121 | Human | 57096 | Details Get a Quote |
| RPGR Knockout A-549 Cell Line | EDJ-KQ29043 | Human | 6103 | Details Get a Quote |
| RPGR Knockout HeLa Cell Line | EDJ-KQ29045 | Human | 6103 | Details Get a Quote |
| PGRMC1 Knockout A-549 Cell Line | EDJ-KQ32130 | Human | 10857 | Details Get a Quote |
| PGRMC1 Knockout HCT 116 Cell Line | EDJ-KQ32131 | Human | 10857 | Details Get a Quote |
| PGRMC1 Knockout HeLa Cell Line | EDJ-KQ32132 | Human | 10857 | Details Get a Quote |
| RPGR Knockout HCT 116 Cell Line | EDJ-KQ27783 | Human | 6103 | Details Get a Quote |
| PGRMC2 Knockout A-549 Cell Line | EDJ-KQ31809 | Human | 10424 | Details Get a Quote |
| PGRMC2 Knockout HCT 116 Cell Line | EDJ-KQ31810 | Human | 10424 | Details Get a Quote |
| PGRMC2 Knockout HeLa Cell Line | EDJ-KQ31811 | Human | 10424 | Details Get a Quote |
Displaying Records 1 To 15 Of 24 Records
