RAI2 Gene - Retinoic Acid Induced 2
Comprehensive genomic and functional overview of RAI2, a gene implicated in transcriptional regulation and cancer progression.
Gene Information Card
| Symbol | RAI2 |
|---|---|
| Full Name | retinoic acid induced 2 |
| Gene Type | protein-coding |
| Chromosomal Location | Xp22.2 |
| NCBI Gene ID | 10742 ncbi.nlm.nih.gov/gene/10742 |
| Ensembl ID | ENSG00000102144 |
| UniProt ID | Q9Y5P3 |
| OMIM ID | 300574 |
| HGNC ID | 9834 |
| Aliases | FLJ10156, MGC138499 |
Description
RAI2 (retinoic acid induced 2) is a protein-coding gene located on the X chromosome. It is induced by retinoic acid and is involved in transcriptional regulation, cell differentiation, and cancer progression. RAI2 has been implicated in breast cancer metastasis and other malignancies, functioning as a potential tumor suppressor.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Loss of RAI2 expression promotes metastasis and epithelial-mesenchymal transition (EMT). | PMID: 25624453 |
| Prostate Cancer | RAI2 downregulation correlates with aggressive disease and poor prognosis. | PMID: 29348625 |
| Colorectal Cancer | RAI2 silencing via promoter methylation contributes to tumor progression. | PMID: 30356098 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Breast | 8.2 | Low |
| Prostate | 6.5 | Low |
| Colon | 5.1 | Low |
| Lung | 4.3 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 3.4 | Low expression |
| PC3 (prostate cancer) | 2.1 | Low expression |
| HCT116 (colorectal cancer) | 1.8 | Very low expression |
| HEK293 (embryonic kidney) | 7.6 | Moderate expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | 0.01% | Unknown functional impact |
| c.202C>T | Nonsense | 0.005% | Predicted loss of function |
| c.350_351del | Frameshift | 0.002% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in RAI2 are predicted to cause loss of function, consistent with its proposed tumor suppressor role.
Gain of Function (GOF)
No gain-of-function mutations have been reported for RAI2.
Dominant Negative (DN)
No dominant-negative mutations have been described for RAI2.
View complete mutation data:
Gene Ontology (GO)
| • DNA binding (GO:0003677) | • nucleus (GO:0005634) |
| • regulation of transcription (GO:0006355) | • positive regulation of transcription by RNA polymerase II (GO:0045944) |
Pathways
• Retinoic acid signaling pathway
• Epithelial-mesenchymal transition (EMT) pathway
Protein Summary
The RAI2 protein (UniProt Q9Y5P3) is a nuclear protein of 402 amino acids. It contains a DNA-binding domain and is involved in transcriptional regulation. RAI2 is induced by retinoic acid and plays a role in cell differentiation. Loss of RAI2 expression is associated with cancer metastasis, particularly in breast and prostate cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAI2 Knockout HEK293 Cell Line | EDJ-KQ7143 | Human | 10742 | Details Get a Quote |
| RAI2 Knockout HeLa Cell Line | EDJ-KQ55476 | Human | 10742 | Details Get a Quote |
| RAI2 Knockout A-549 Cell Line | EDJ-KQ63964 | Human | 10742 | Details Get a Quote |
| RAI2 Knockout HCT 116 Cell Line | EDJ-KQ72418 | Human | 10742 | Details Get a Quote |