ADARB2
Adenosine Deaminase RNA Specific B2 (Inactive)
Gene Information Card
| Symbol | ADARB2 |
|---|---|
| Full Name | Adenosine Deaminase RNA Specific B2 (Inactive) |
| Gene Type | Protein coding |
| Chromosomal Location | 10p15.3 |
| NCBI Gene ID | 104 ncbi.nlm.nih.gov/gene/104 |
| Ensembl ID | ENSG00000138131 |
| UniProt ID | Q9NS39 |
| OMIM ID | 601681 |
| HGNC ID | 226 |
| Aliases | ADAR3, RED2, RNA-editing deaminase 2 |
Description
ADARB2 (Adenosine Deaminase RNA Specific B2) is a member of the adenosine deaminase acting on RNA (ADAR) family. Unlike other ADAR family members, ADARB2 lacks catalytic activity due to key amino acid substitutions in its deaminase domain. It is predominantly expressed in the brain and may regulate RNA editing by competing with active ADAR enzymes or by binding double-stranded RNA. Its exact biological functions remain under investigation, but it is implicated in neurological processes and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Altered expression may affect RNA editing in tumorigenesis | PMID: 25642770 |
| Glioblastoma | Dysregulation of ADARB2 may influence tumor progression | PMID: 29162644 |
| Major depressive disorder | Potential role in RNA editing changes in the brain | PMID: 24606850 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 1.2 | Low |
| Lung | 0.8 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 8.3 | Neuroblastoma cell line |
| U87MG | 5.1 | Glioblastoma cell line |
| HEK293 | 0.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.01% | Unknown functional impact |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons are predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been characterized.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • double-stranded RNA binding |
| • adenosine deaminase activity (inactive) | • nucleus |
| • cytoplasm |
Pathways
• RNA editing: Adenosine to inosine
• Double-stranded RNA binding
Protein Summary
ADARB2 is a 739-amino acid protein that contains two double-stranded RNA binding domains and a deaminase domain rendered catalytically inactive by critical residue changes. It localizes to the nucleus and cytoplasm and is thought to modulate RNA editing by interacting with double-stranded RNA substrates or other ADAR proteins. Its expression is largely restricted to the brain, suggesting a specialized role in neural RNA regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADARB2 Knockout HEK293 Cell Line | EDJ-KQ4008 | Human | 105 | Details Get a Quote |
| ADARB2 Knockout HeLa Cell Line | EDJ-KQ52548 | Human | 105 | Details Get a Quote |
| ADARB2 Knockout A-549 Cell Line | EDJ-KQ61031 | Human | 105 | Details Get a Quote |
| ADARB2 Knockout HCT 116 Cell Line | EDJ-KQ69506 | Human | 105 | Details Get a Quote |
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