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.

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 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
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