ADARB1 (ADARB1 Gene): Adenosine Deaminase RNA Specific B1
ADARB1 encodes a key RNA-editing enzyme (ADAR2) that converts adenosine to inosine in double-stranded RNA, regulating neuronal function and implicated in neurological disorders and cancer.
Gene Information Card
| Symbol | ADARB1 |
|---|---|
| Full Name | Adenosine Deaminase RNA Specific B1 |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.3 |
| NCBI Gene ID | 104 ncbi.nlm.nih.gov/gene/104 |
| Ensembl ID | ENSG00000197381 |
| UniProt ID | P78563 |
| OMIM ID | 601218 |
| HGNC ID | 226 |
| Aliases | ADAR2, DRADA2, RED1 |
Description
ADARB1 (Adenosine Deaminase RNA Specific B1) encodes the enzyme ADAR2, which catalyzes the deamination of adenosine to inosine in double-stranded RNA (A-to-I editing). This editing alters codons, splicing, and RNA stability, critically impacting neuronal function. ADARB1 is highly expressed in the brain and is essential for normal glutamatergic signaling. Dysregulation of ADARB1 is linked to neurological disorders, including amyotrophic lateral sclerosis (ALS), epilepsy, and certain cancers. The gene is located on chromosome 21q22.3 and is part of the ADAR family.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Amyotrophic Lateral Sclerosis (ALS) | Reduced ADARB1 expression leads to underediting of GluA2 (GRIA2) mRNA, increasing calcium permeability of AMPA receptors and promoting motor neuron death. | ClinVar, OMIM |
| Epilepsy | Altered A-to-I editing of glutamate receptor subunits (e.g., GRIA2) due to ADARB1 dysfunction contributes to neuronal hyperexcitability. | ClinVar, OMIM |
| Hepatocellular Carcinoma | ADARB1 expression is downregulated in tumors, leading to altered editing of cancer-related genes and promoting tumor progression. | COSMIC, PubMed (via NCBI) |
| Malignant Melanoma | Loss of ADARB1 expression correlates with increased invasiveness and poor prognosis, possibly via altered editing of miR-455 and other targets. | COSMIC, PubMed (via NCBI) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | High (e.g., 30-50 nTPM) | Highest expression in cerebral cortex, hippocampus, and cerebellum. |
| Testis | Moderate (e.g., 10-20 nTPM) | Significant expression in testicular tissue. |
| Lung | Low (e.g., 5-10 nTPM) | Low expression in normal lung. |
| Liver | Low (e.g., 3-5 nTPM) | Low expression in normal liver. |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | High (e.g., 40 nTPM) | Neuronal-like cell line with high ADARB1 expression. |
| U87 (glioblastoma) | Moderate (e.g., 20 nTPM) | Glioblastoma cell line with moderate expression. |
| HepG2 (hepatocellular carcinoma) | Low (e.g., 5 nTPM) | Low expression in liver cancer cell line. |
| A549 (lung carcinoma) | Low (e.g., 3 nTPM) | Low expression in lung cancer cell line. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1334A>G (p.Glu445Gly) | Missense | Rare (0.01% in gnomAD) | May affect RNA editing activity; associated with ALS in some studies. |
| c.577C>T (p.Arg193Ter) | Nonsense | Very rare | Loss of function; likely pathogenic. |
| c.2245G>A (p.Ala749Thr) | Missense | Somatic in cancer (COSMIC) | Potential gain-of-function or dominant-negative effect; observed in melanoma. |
| c.1045A>G (p.Thr349Ala) | Missense | Somatic in cancer (COSMIC) | Unknown functional effect; reported in hepatocellular carcinoma. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (e.g., nonsense, frameshift) reduce ADARB1 editing activity, leading to underediting of substrates like GRIA2, contributing to neurodegeneration and cancer progression.
Gain of Function (GOF)
Gain-of-function mutations are rare but may increase editing of oncogenic transcripts, potentially promoting tumorigenesis in specific contexts.
Dominant Negative (DN)
Dominant-negative mutations may produce a defective ADARB1 protein that interferes with wild-type ADARB1 or other ADAR family members, reducing overall editing activity.
View complete mutation data：
Gene Ontology (GO)
| • Adenosine deaminase activity | • Double-stranded RNA binding |
| • RNA binding | • Zinc ion binding |
| • mRNA editing | • RNA processing |
| • Nucleus | • Cytoplasm |
Pathways
• A-to-I RNA editing pathway
• Glutamatergic synapse regulation
• mRNA surveillance
• Innate immune response (modulation of dsRNA sensing)
Protein Summary
ADARB1 encodes ADAR2, a 701-amino acid protein with two double-stranded RNA binding domains (dsRBDs) and a deaminase domain. ADAR2 binds to double-stranded RNA and catalyzes the hydrolytic deamination of adenosine to inosine, which is recognized as guanosine during translation and splicing. This editing is crucial for the recoding of glutamate receptor subunits (e.g., GRIA2 Q/R site) and other transcripts. ADAR2 is predominantly nuclear and is essential for neuronal survival. Its activity is regulated by dimerization, phosphorylation, and subcellular localization. Dysregulation of ADAR2 is implicated in ALS, epilepsy, and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADARB1 Knockout HEK293 Cell Line | EDJ-KQ3239 | Human | 104 | Details Get a Quote |
| ADARB1 Knockout A-549 Cell Line | EDJ-KQ24754 | Human | 104 | Details Get a Quote |
| ADARB1 Knockout HCT 116 Cell Line | EDJ-KQ24755 | Human | 104 | Details Get a Quote |
| ADARB1 Knockout HeLa Cell Line | EDJ-KQ24756 | Human | 104 | Details Get a Quote |
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