PIWIL4
Piwi Like RNA-Mediated Gene Silencing 4
Gene Information Card
| Symbol | PIWIL4 |
|---|---|
| Full Name | Piwi Like RNA-Mediated Gene Silencing 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q21 |
| NCBI Gene ID | 143689 ncbi.nlm.nih.gov/gene/143689 |
| Ensembl ID | ENSG00000134627 |
| UniProt ID | Q7Z3Z3 |
| OMIM ID | 610745 |
| HGNC ID | 18444 |
| Aliases | HIWI2, PIWIL4a, piwi-like 4 |
Description
PIWIL4 (Piwi Like RNA-Mediated Gene Silencing 4) is a protein-coding gene that encodes a member of the Piwi subfamily of Argonaute proteins. These proteins are essential for germ cell development and maintenance, primarily through their role in the piRNA (Piwi-interacting RNA) pathway, which silences transposable elements and regulates gene expression during spermatogenesis. PIWIL4 is predominantly expressed in testis and is also implicated in certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure | Loss of PIWIL4 disrupts piRNA-mediated transposon silencing, leading to meiotic arrest and impaired sperm production | OMIM 610745; mouse knockout models show male infertility |
| Testicular germ cell tumors | Altered PIWIL4 expression may contribute to tumorigenesis via dysregulated piRNA pathways | COSMIC; literature reports of overexpression in seminomas |
| Ovarian cancer | PIWIL4 upregulation associated with poor prognosis, potentially through epigenetic silencing of tumor suppressors | COSMIC; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 48.2 | High |
| Ovary | 3.1 | Low |
| Brain | 1.5 | Low |
| Lung | 0.8 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NTERA-2 (embryonal carcinoma) | 12.4 | Moderate expression |
| HeLa (cervical carcinoma) | 0.2 | Not detected |
| A549 (lung carcinoma) | 0.1 | Not detected |
| MCF7 (breast carcinoma) | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function; associated with spermatogenic failure |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Loss of function; reported in male infertility |
| c.890A>G (p.Tyr297Cys) | Missense | <0.01% | Unknown effect; rare variant |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) lead to truncated protein and loss of piRNA binding/slicer activity, causing meiotic arrest and infertility.
Gain of Function (GOF)
Not documented in curated databases.
Dominant Negative (DN)
Not documented in curated databases.
View complete mutation data：
Gene Ontology (GO)
| • piRNA binding | • endonuclease activity |
| • RNA binding | • gene silencing by RNA |
| • regulation of transposition | • germ cell development |
| • spermatogenesis |
Pathways
• piRNA pathway
• Transposon silencing
• Germ cell development
Protein Summary
The PIWIL4 protein (also known as HIWI2) is a 861-amino acid endonuclease that binds piRNAs to silence transposable elements in the germline. It localizes to the cytoplasm and nuage (germ cell granules) and is essential for meiotic progression during spermatogenesis. The protein contains PAZ and Piwi domains, with the latter providing slicer activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PIWIL4 Knockout HEK293 Cell Line | EDJ-KQ10392 | Human | 143689 | Details Get a Quote |
| PIWIL4 Knockout HeLa Cell Line | EDJ-KQ58494 | Human | 143689 | Details Get a Quote |
| PIWIL4 Knockout A-549 Cell Line | EDJ-KQ66983 | Human | 143689 | Details Get a Quote |
| PIWIL4 Knockout HCT 116 Cell Line | EDJ-KQ75383 | Human | 143689 | Details Get a Quote |
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