RAD54L2
RAD54-like 2 (S. cerevisiae)
Gene Information Card
| Symbol | RAD54L2 |
|---|---|
| Full Name | RAD54-like 2 (S. cerevisiae) |
| Gene Type | protein-coding |
| Chromosomal Location | 3p21.2 |
| NCBI Gene ID | 23132 ncbi.nlm.nih.gov/gene/23132 |
| Ensembl ID | ENSG00000114520 |
| UniProt ID | Q9Y4B4 |
| OMIM ID | 614545 |
| HGNC ID | 21088 |
| Aliases | ARIP4, RAD54B, RAD54L, RAD54B2 |
Description
RAD54L2 (RAD54-like 2) is a protein-coding gene that encodes a member of the SNF2/RAD54 family of DNA helicases. The protein is involved in DNA repair, chromatin remodeling, and transcriptional regulation. It functions as an ATP-dependent DNA helicase and interacts with various nuclear receptors, modulating their activity. RAD54L2 is implicated in homologous recombination repair and cellular responses to DNA damage.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered expression and potential role in DNA repair deficiency | COSMIC, ClinVar |
| Colorectal cancer | Somatic mutations and copy number alterations | COSMIC |
| Lung cancer | Overexpression and potential oncogenic role | COSMIC |
| Prostate cancer | Interaction with androgen receptor and transcriptional modulation | UniProt, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.3 | Medium |
| Lymph node | 7.1 | Medium |
| Brain | 4.2 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 10.5 | Moderate expression |
| MCF7 | 8.9 | Moderate expression |
| A549 | 6.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function |
| c.567G>A (p.Glu189Lys) | Missense | 0.2% | Unknown functional impact |
| c.2345_2346insA | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations predicted to truncate the protein, impairing helicase activity and DNA repair.
Gain of Function (GOF)
Not well characterized; some missense variants may alter substrate specificity or interaction partners.
Dominant Negative (DN)
Not reported for RAD54L2.
View complete mutation data：
Gene Ontology (GO)
| • DNA helicase activity | • ATP binding |
| • chromatin binding | • DNA repair |
| • homologous recombination | • transcription coactivator activity |
Pathways
• Homologous recombination
• DNA double-strand break repair
• Chromatin remodeling
Protein Summary
RAD54L2 is a 1,209-amino acid protein belonging to the SNF2/RAD54 helicase family. It contains a conserved helicase ATP-binding domain and a C-terminal domain involved in nuclear receptor interaction. The protein localizes to the nucleus and exhibits ATP-dependent DNA helicase activity, unwinding DNA in the 3' to 5' direction. It participates in homologous recombination repair by promoting Rad51 filament formation and strand exchange. Additionally, RAD54L2 acts as a coactivator for androgen receptor and other nuclear receptors, linking DNA repair to transcriptional regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAD54L2 Knockout HEK293 Cell Line | EDJ-KQ7846 | Human | 23132 | Details Get a Quote |
| RAD54L2 Knockout A-549 Cell Line | EDJ-KQ33399 | Human | 23132 | Details Get a Quote |
| RAD54L2 Knockout HCT 116 Cell Line | EDJ-KQ33400 | Human | 23132 | Details Get a Quote |
| RAD54L2 Knockout HeLa Cell Line | EDJ-KQ33401 | Human | 23132 | Details Get a Quote |
