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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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APOBEC2
apolipoprotein B mRNA editing enzyme catalytic subunit 2
Chromosome 6 · 6p21.1
NCBI Gene: 10930Ensembl: ENSG00000124701.7HGNC: HGNC:605UniProt: Q9Y235
18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytidine to uridine editingcytidine deaminase activityidentical protein bindingpositive regulation of gene expression via chromosomal CpG island demethylationneurodegenerative diseaseintestinal diseasevascular diseasegastrointestinal disease
✦AI Summary

APOBEC2 is a member of the apolipoprotein B mRNA editing enzyme family with cytidine deaminase activity, though its physiological substrate remains unclear 1. Unlike APOBEC1 (RNA editing) and AID (antibody diversification), APOBEC2 appears to have specialized functions distinct from canonical deamination roles 2. Despite displaying low intrinsic deaminase activity, APOBEC2 is primarily expressed in skeletal and cardiac muscle 3. In muscle biology, APOBEC2 acts as a negative regulator of myoblast differentiation; APOBEC2-deficient mice show accelerated myogenic progression and enhanced muscle regeneration following injury, suggesting a role in controlling the timing of myoblast-to-myotube transition 3. In hepatic contexts, APOBEC2 expression is regulated by pro-inflammatory cytokines TNF-α and IL-1β through NF-κB signaling 4, and HBV infection upregulates APOBEC2 via miR-122 suppression, linking APOBEC2 to hepatocarcinogenesis through tumor suppressor gene mutations 5. In gastric adenocarcinoma, APOBEC2 downregulation associates with neutrophil infiltration and worse prognosis in chemotherapy-treated patients, though it is not an independent prognostic factor 6. In oculopharyngeal muscular dystrophy, elevated plasma APOBEC2 correlates with muscle degeneration severity 7. Gene-targeting studies confirm APOBEC2 is dispensable for basic development and fertility 8.

Sources cited
1
APOBEC2 and APOBEC4 have different functions compared to APOBEC1 and APOBEC3 subfamilies
PMID: 25818029
2
APOBEC2 negatively regulates myoblast differentiation; deficiency leads to accelerated myogenic progression and enhanced muscle regeneration
PMID: 28215905
3
APOBEC2 expression is regulated by TNF-α and IL-1β through NF-κB signaling in hepatocytes
PMID: 16427049
4
HBV upregulates APOBEC2 via miR-122 suppression; APOBEC2 overexpression may induce liver cancer through tumor suppressor gene mutations
PMID: 31485598
5
APOBEC2 downregulation in gastric adenocarcinoma associates with neutrophil infiltration and worse survival in chemotherapy-treated patients
PMID: 38166744
6
Elevated plasma APOBEC2 is a candidate biomarker distinguishing oculopharyngeal muscular dystrophy severity
PMID: 39973404
7
APOBEC2-deficient mice develop normally and are viable and fertile; APOBEC2 shows no detectable deaminating activity on cytidine
PMID: 16055735
8
APOBEC2 is a member of the APOBEC family with conserved active site motifs; overexpression of APOBEC family enzymes can cause cancer
PMID: 16720547
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.40Moderate
intestinal diseaseOpen Targets
0.25Weak
vascular diseaseOpen Targets
0.25Weak
gastrointestinal diseaseOpen Targets
0.23Weak
Left bundle branch blockOpen Targets
0.12Weak
Distal myopathy, Nonaka typeOpen Targets
0.07Suggestive
myopathy, distal, 5Open Targets
0.07Suggestive
gastric adenocarcinomaOpen Targets
0.06Suggestive
myopathyOpen Targets
0.06Suggestive
tibial muscular dystrophyOpen Targets
0.06Suggestive
GNE myopathyOpen Targets
0.06Suggestive
exercise intolerance, riboflavin-responsiveOpen Targets
0.06Suggestive
myofibrillar myopathy 3Open Targets
0.06Suggestive
distal myopathy, Welander typeOpen Targets
0.06Suggestive
Distal myotilinopathyOpen Targets
0.06Suggestive
distal myopathyOpen Targets
0.06Suggestive
autosomal recessive limb-girdle muscular dystrophy type 2LOpen Targets
0.06Suggestive
Autosomal dominant limb-girdle muscular dystrophy type 1DOpen Targets
0.06Suggestive
distal myopathy with anterior tibial onsetOpen Targets
0.05Suggestive
autosomal recessive limb-girdle muscular dystrophy type 2HOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
APOBEC4Protein interaction98%APOBProtein interaction96%CDAProtein interaction75%A1CFProtein interaction69%APOBEC1Protein interaction59%AICDAShared pathway29%
Tissue Expression6 tissues
Heart
100%
Lung
1%
Bone Marrow
0%
Liver
0%
Ovary
0%
Brain
0%
Gene Interaction Network
Click a node to explore
APOBEC2APOBEC4APOBCDAA1CFAPOBEC1AICDA
PROTEIN STRUCTURE
Preparing viewer…
PDB2NYT · 2.50 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.08LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.69 [0.46–1.08]
RankingsWhere APOBEC2 stands among ~20K protein-coding genes
  • #14,637of 20,598
    Most Researched18
  • #11,043of 17,882
    Most Constrained (LOEUF)1.08
Genes detectedAPOBEC2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
APOBECs and virus restriction.
PMID: 25818029
Virology · 2015
1.00
2
Expression and prognostic value of APOBEC2 in gastric adenocarcinoma and its association with tumor-infiltrating immune cells.
PMID: 38166744
BMC Cancer · 2024
0.90
3
Plasma-derived protein and imaging biomarkers distinguish disease severity in oculopharyngeal muscular dystrophy.
PMID: 39973404
J Neuromuscul Dis · 2025
0.80
4
Mice deficient in APOBEC2 and APOBEC3.
PMID: 16055735
Mol Cell Biol · 2005
0.70
5
APOBEC2 negatively regulates myoblast differentiation in muscle regeneration.
PMID: 28215905
Int J Biochem Cell Biol · 2017
0.60