AAR2 Splicing Factor
AAR2 Homolog, Spliceosome Assembly Factor
Gene Information Card
| Symbol | AAR2 |
|---|---|
| Full Name | AAR2 Homolog, Spliceosome Assembly Factor |
| Gene Type | Protein coding |
| Chromosomal Location | 20p13 |
| NCBI Gene ID | 196472 ncbi.nlm.nih.gov/gene/196472 |
| Ensembl ID | ENSG00000125869 |
| UniProt ID | Q9Y312 |
| OMIM ID | 618836 |
| HGNC ID | 15866 |
| Aliases | FLJ10156, MGC13170 |
Description
The AAR2 gene encodes a protein involved in spliceosome assembly, specifically in the maturation of the U5 small nuclear ribonucleoprotein (snRNP). It is essential for pre-mRNA splicing and is conserved from yeast to humans. The protein interacts with the U5 snRNP component PRPF8 and is required for the formation of the active spliceosome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis Pigmentosa | Impaired spliceosome assembly due to AAR2 mutations leads to retinal degeneration | ClinVar, OMIM |
| Cancer (general) | Dysregulation of splicing factors, including AAR2, contributes to oncogenesis | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Heart | 6.1 | Low |
| Liver | 4.7 | Low |
| Kidney | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Embryonic kidney cells |
| HeLa | 9.8 | Cervical cancer cells |
| K562 | 7.5 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Loss of function, associated with retinitis pigmentosa |
| c.208C>T | Nonsense | Rare | Premature stop, loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations in AAR2 cause loss of spliceosome assembly function, leading to retinal degeneration.
Gain of Function (GOF)
No evidence of gain-of-function mutations in AAR2.
Dominant Negative (DN)
No evidence of dominant-negative mutations in AAR2.
View complete mutation data：
Gene Ontology (GO)
| • GO:0000244 - spliceosomal tri-snRNP complex assembly | • GO:0005682 - U5 snRNP |
| • GO:0005689 - U12-type spliceosomal complex | • GO:0006397 - mRNA processing |
| • GO:0008380 - RNA splicing |
Pathways
• Spliceosome (KEGG: hsa03040)
• mRNA Splicing - Major Pathway (Reactome: R-HSA-72163)
Protein Summary
The AAR2 protein is a 244-amino acid factor that localizes to the nucleus and is a component of the U5 snRNP. It facilitates the assembly of the tri-snRNP complex (U4/U6.U5) by binding to PRPF8. Loss of AAR2 function disrupts splicing and is linked to retinitis pigmentosa.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TAAR2 Knockout HEK293 Cell Line | EDJ-KQ6537 | Human | 9287 | Details Get a Quote |
| AAR2 Knockout HEK293 Cell Line | EDJ-KQ8337 | Human | 25980 | Details Get a Quote |
| AAR2 Knockout A-549 Cell Line | EDJ-KQ34345 | Human | 25980 | Details Get a Quote |
| AAR2 Knockout HCT 116 Cell Line | EDJ-KQ34346 | Human | 25980 | Details Get a Quote |
| AAR2 Knockout HeLa Cell Line | EDJ-KQ34347 | Human | 25980 | Details Get a Quote |
| TAAR2 Knockout HeLa Cell Line | EDJ-KQ55121 | Human | 9287 | Details Get a Quote |
| TAAR2 Knockout A-549 Cell Line | EDJ-KQ63600 | Human | 9287 | Details Get a Quote |
| TAAR2 Knockout HCT 116 Cell Line | EDJ-KQ72065 | Human | 9287 | Details Get a Quote |
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