PIWIL2
Piwi Like RNA-Mediated Gene Silencing 2
Gene Information Card
| Symbol | PIWIL2 |
|---|---|
| Full Name | Piwi Like RNA-Mediated Gene Silencing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 8p21.3 |
| NCBI Gene ID | 55124 ncbi.nlm.nih.gov/gene/55124 |
| Ensembl ID | ENSG00000104447 |
| UniProt ID | Q8TC59 |
| OMIM ID | 610312 |
| HGNC ID | 17644 |
| Aliases | HILI, PIWIL1L, CT80, mCG_14905 |
Description
PIWIL2 (Piwi Like RNA-Mediated Gene Silencing 2) is a protein-coding gene that belongs to the Argonaute family of piwi subfamily. It plays a key role in germ cell development, stem cell self-renewal, and transposon silencing via the piRNA pathway. PIWIL2 is frequently overexpressed in various cancers and is implicated in tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure | PIWIL2 mutations disrupt piRNA-mediated transposon silencing in germ cells, leading to meiotic arrest and infertility. | ClinVar, OMIM |
| Testicular germ cell tumors | PIWIL2 overexpression promotes stem cell-like properties and inhibits apoptosis in germ cells. | COSMIC, PubMed |
| Breast cancer | PIWIL2 upregulation correlates with poor prognosis and may activate STAT3 signaling. | COSMIC, PubMed |
| Colorectal cancer | PIWIL2 overexpression is associated with tumor progression and metastasis. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Ovary | 1.2 | Low |
| Breast | 0.8 | Low |
| Colon | 0.5 | Low |
| Lung | 0.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NTERA-2 (testicular embryonal carcinoma) | 15.2 | High expression |
| MCF7 (breast cancer) | 3.1 | Moderate expression |
| HCT116 (colorectal carcinoma) | 2.8 | Moderate expression |
| A549 (lung carcinoma) | 0.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; associated with spermatogenic failure |
| c.567G>A (p.Gly189Arg) | Missense | Rare | Unknown functional impact |
| c.890_891insA (p.Gln297fs) | Frameshift | Rare | Loss of function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in PIWIL2 lead to truncated protein and loss of piRNA binding, impairing transposon silencing and germ cell development.
Gain of Function (GOF)
Not well documented; overexpression in cancers may act as a gain-of-function by promoting stemness and anti-apoptotic pathways.
Dominant Negative (DN)
No dominant negative mutations reported for PIWIL2.
View complete mutation data：
Gene Ontology (GO)
| • piRNA binding | • RNA binding |
| • endonuclease activity | • gene silencing by RNA |
| • regulation of transposition | • germ cell development |
| • stem cell population maintenance |
Pathways
• piRNA pathway
• Transposon silencing
• Stem cell pluripotency
Protein Summary
PIWIL2 is a 973-amino acid protein containing PAZ and Piwi domains. It binds piRNAs and mediates endonucleolytic cleavage of transposon transcripts, thereby silencing transposable elements in germ cells. PIWIL2 is also involved in epigenetic regulation and is aberrantly expressed in multiple cancers, where it may contribute to tumor initiation and progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PIWIL2 Knockout HEK293 Cell Line | EDJ-KQ14775 | Human | 55124 | Details Get a Quote |
| PIWIL2 Knockout MDA-MB-231 Cell Line | EDJ-KZ400 | Human | 55124 | Details Get a Quote |
| PIWIL2 Knockout HeLa Cell Line | EDJ-KQ56542 | Human | 55124 | Details Get a Quote |
| PIWIL2 Knockout A-549 Cell Line | EDJ-KQ65037 | Human | 55124 | Details Get a Quote |
| PIWIL2 Knockout HCT 116 Cell Line | EDJ-KQ73482 | Human | 55124 | Details Get a Quote |
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