APOBEC2
Apolipoprotein B mRNA Editing Enzyme Catalytic Subunit 2
Gene Information Card
| Symbol | APOBEC2 |
|---|---|
| Full Name | Apolipoprotein B mRNA Editing Enzyme Catalytic Subunit 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 10930 ncbi.nlm.nih.gov/gene/10930 |
| Ensembl ID | ENSG00000124772 |
| UniProt ID | Q9Y235 |
| OMIM ID | 604797 |
| HGNC ID | 605 |
| Aliases | ARCD2, ARP2 |
Description
APOBEC2 is a member of the AID/APOBEC family of cytidine deaminases. It is primarily expressed in cardiac and skeletal muscle and plays a role in muscle development and regeneration. Unlike other APOBEC family members, APOBEC2 does not exhibit DNA editing activity and is thought to function in RNA editing or as a structural protein. Mutations in APOBEC2 have been associated with dilated cardiomyopathy and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dilated cardiomyopathy | Missense mutations (e.g., p.Arg92Trp) disrupt protein function leading to impaired muscle development | ClinVar |
| Colorectal cancer | Somatic mutations and altered expression may contribute to tumorigenesis | COSMIC |
| Breast cancer | Overexpression observed in some subtypes; potential role in tumor progression | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 15.3 | Medium |
| Liver | 0.2 | Not detected |
| Brain | 0.1 | Not detected |
| Lung | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| H9c2 (rat cardiomyoblasts) | - | High expression |
| C2C12 (mouse myoblasts) | - | High expression |
| HEK293 | 0.5 | Low expression |
| HeLa | 0.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.274C>T (p.Arg92Trp) | Missense | <0.01% | Likely pathogenic; associated with dilated cardiomyopathy |
| c.1A>G (p.Met1Val) | Missense | <0.01% | Uncertain significance |
| c.100G>A (p.Glu34Lys) | Missense | <0.01% | Benign |
Mutation functional classification
Loss of Function (LOF)
p.Arg92Trp reduces protein stability and disrupts muscle development
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • cytidine deaminase activity | • RNA binding |
| • zinc ion binding | • muscle cell differentiation |
| • heart development |
Pathways
• mRNA editing
• Muscle contraction
Protein Summary
APOBEC2 is a 224-amino acid protein containing a conserved cytidine deaminase domain. It is predominantly expressed in cardiac and skeletal muscle, where it localizes to the cytoplasm and nucleus. The protein lacks detectable DNA editing activity and is proposed to regulate RNA editing or act as a scaffold in muscle cells. Structural studies reveal a homotetrameric arrangement.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| APOBEC2 Knockout HEK293 Cell Line | EDJ-KQ7217 | Human | 10930 | Details Get a Quote |
| APOBEC2 Knockout HeLa Cell Line | EDJ-KQ55531 | Human | 10930 | Details Get a Quote |
| APOBEC2 Knockout A-549 Cell Line | EDJ-KQ64021 | Human | 10930 | Details Get a Quote |
| APOBEC2 Knockout HCT 116 Cell Line | EDJ-KQ72472 | Human | 10930 | Details Get a Quote |
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