PRLR (Prolactin Receptor)
Gene encoding the prolactin receptor, involved in lactation, reproduction, and immune modulation.
Gene Information Card
| Symbol | PRLR |
|---|---|
| Full Name | Prolactin receptor |
| Gene Type | protein-coding |
| Chromosomal Location | 5p13.2 |
| NCBI Gene ID | 5618 ncbi.nlm.nih.gov/gene/5618 |
| Ensembl ID | ENSG00000113494 |
| UniProt ID | P16471 |
| OMIM ID | 176761 |
| HGNC ID | 9346 |
| Aliases | hPRLr, PRL-R, RP11-403I13.4 |
Description
The PRLR gene encodes the prolactin receptor, a single-pass transmembrane protein belonging to the class I cytokine receptor family. Upon binding prolactin, the receptor activates JAK2/STAT5 signaling, regulating lactation, mammary gland development, reproduction, and immune function. Alternative splicing yields multiple isoforms with varying intracellular domains.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hyperprolactinemia | PRLR loss-of-function variants impair prolactin signaling, leading to elevated serum prolactin and reproductive dysfunction. | ClinVar, OMIM |
| Breast cancer | PRLR overexpression and activating mutations promote cell proliferation via STAT5 and MAPK pathways. | COSMIC, NCBI |
| Prolactinoma | Somatic PRLR mutations in pituitary tumors contribute to autonomous prolactin secretion. | COSMIC, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Breast | 28.5 | High |
| Pituitary | 15.2 | Medium |
| Liver | 8.7 | Medium |
| Kidney | 4.1 | Low |
| Ovary | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 32.1 | High expression |
| T-47D (breast cancer) | 29.4 | High expression |
| HepG2 (liver) | 9.2 | Moderate expression |
| HEK293 (embryonic kidney) | 2.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1018C>T (p.Arg340Cys) | Missense | <0.01% | Reduced prolactin binding and signaling |
| c.1723G>A (p.Gly575Arg) | Missense | <0.01% | Gain-of-function, increased STAT5 activation |
| c.2071_2072insA (p.Ile691Asnfs*3) | Frameshift | <0.01% | Loss-of-function, truncated receptor |
Mutation functional classification
Loss of Function (LOF)
Mutations that truncate the receptor or disrupt ligand binding (e.g., p.Arg340Cys) impair JAK2/STAT5 signaling, leading to prolactin resistance and hyperprolactinemia.
Gain of Function (GOF)
Missense variants such as p.Gly575Arg enhance receptor dimerization and downstream signaling, associated with breast cancer and prolactinoma.
Dominant Negative (DN)
Isoforms with truncated intracellular domains can heterodimerize with full-length receptors, inhibiting normal signaling.
View complete mutation data：
Gene Ontology (GO)
| • prolactin receptor activity (GO:0004896) | • JAK-STAT cascade (GO:0007259) |
| • signal transduction (GO:0007165) | • plasma membrane (GO:0005886) |
| • metal ion binding (GO:0046872) |
Pathways
• Prolactin signaling pathway (KEGG hsa04917)
• JAK-STAT signaling pathway (KEGG hsa04630)
• Cytokine-cytokine receptor interaction (KEGG hsa04060)
Protein Summary
The prolactin receptor (PRLR) is a 598-amino-acid transmembrane protein with an extracellular ligand-binding domain, a single transmembrane helix, and a cytoplasmic domain containing Box1 and Box2 motifs essential for JAK2 recruitment. Upon prolactin binding, PRLR homodimerizes, activating JAK2 which phosphorylates STAT5 transcription factors, leading to gene expression changes that control lactation, cell growth, and differentiation. Multiple isoforms arise from alternative splicing, modulating signaling strength.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRLR Knockout HEK293 Cell Line | EDJ-KQ523 | Human | 5618 | Details Get a Quote |
| Prlr Knockout HT22 Cell Line | EDJ-KZ415 | Mouse | 19116 | Details Get a Quote |
| PRLR Knockout HeLa Cell Line | EDJ-KQ54219 | Human | 5618 | Details Get a Quote |
| PRLR Knockout A-549 Cell Line | EDJ-KQ62713 | Human | 5618 | Details Get a Quote |
| PRLR Knockout HCT 116 Cell Line | EDJ-KQ71185 | Human | 5618 | Details Get a Quote |
| PRLR Knockout HAP1 Cell Line | EDC09371 | Human | 5618 | Details Get a Quote |
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