ANGEL2 Gene
ANGEL2: Angel Homolog 2 – A 3'-5' RNA Exoribonuclease Involved in RNA Metabolism and Cellular Stress Response
Gene Information Card
| Symbol | ANGEL2 |
|---|---|
| Full Name | Angel Homolog 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 1q32.3 |
| NCBI Gene ID | 90861 ncbi.nlm.nih.gov/gene/90861 |
| Ensembl ID | ENSG00000116754 |
| UniProt ID | Q9BYK6 |
| OMIM ID | 618472 |
| HGNC ID | 24073 |
| Aliases | FLJ12529, MGC131851 |
Description
ANGEL2 (Angel Homolog 2) is a protein-coding gene located on chromosome 1q32.3. It encodes a 3'-5' RNA exoribonuclease belonging to the Angel family. The enzyme is involved in RNA metabolism, including the degradation of specific RNA substrates, and has been implicated in cellular stress responses. ANGEL2 is ubiquitously expressed, with highest levels in the testis and brain. Mutations in ANGEL2 have been associated with neurodevelopmental disorders and are observed in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly and seizures | Loss-of-function mutations impair RNA processing, leading to neuronal dysfunction | ClinVar; OMIM 618472 |
| Glioblastoma | Somatic mutations and altered expression may contribute to tumor progression | COSMIC; NCBI Gene |
| Colorectal cancer | Recurrent missense mutations observed in tumor samples | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Brain | 15.2 | Medium |
| Heart | 10.8 | Medium |
| Liver | 6.3 | Low |
| Kidney | 8.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.4 | Embryonic kidney cells |
| HeLa | 9.7 | Cervical cancer cells |
| SH-SY5Y | 14.1 | Neuroblastoma cells |
| HepG2 | 7.2 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | 0.001% (gnomAD) | Loss of exoribonuclease activity |
| c.1234G>A (p.Gly412Arg) | Missense | 0.0005% (gnomAD) | Reduced RNA binding |
| c.789_790del (p.Glu264fs) | Frameshift | <0.0001% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated protein lacking catalytic domain, resulting in loss of RNA exoribonuclease activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ANGEL2.
Dominant Negative (DN)
Missense mutations in the catalytic domain may interfere with wild-type protein function, but dominant-negative effects are not well established.
View complete mutation data：
Gene Ontology (GO)
| • 3'-5' exoribonuclease activity (GO:0000175) | • RNA binding (GO:0003723) |
| • cytoplasm (GO:0005737) | • nucleus (GO:0005634) |
| • RNA catabolic process (GO:0006401) |
Pathways
• RNA degradation (KEGG: hsa03018)
• mRNA surveillance pathway (KEGG: hsa03015)
Protein Summary
The ANGEL2 protein (UniProt Q9BYK6) is a 3'-5' exoribonuclease that processes RNA substrates in the cytoplasm and nucleus. It contains an N-terminal Angel domain responsible for catalytic activity. The enzyme is involved in the degradation of specific RNAs, including those with structured 3' ends, and plays a role in cellular stress responses. Structural studies show a conserved active site with critical residues for magnesium-dependent catalysis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANGEL2 Knockout HEK293 Cell Line | EDJ-KQ10653 | Human | 90806 | Details Get a Quote |
| ANGEL2 Knockout A-549 Cell Line | EDJ-KQ38168 | Human | 90806 | Details Get a Quote |
| ANGEL2 Knockout HCT 116 Cell Line | EDJ-KQ38169 | Human | 90806 | Details Get a Quote |
| ANGEL2 Knockout HeLa Cell Line | EDJ-KQ38170 | Human | 90806 | Details Get a Quote |
