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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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APOBEC3A_B
APOBEC3A and APOBEC3B deletion hybrid
Chromosome 22 · 22q13 alternate reference locus
NCBI Gene: 100913187Ensembl: ENSG00000128383.14HGNC: HGNC:17343UniProt: A0A0K0MJ49
16PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Swiss-Prot Reviewed
breast carcinomaneurodegenerative diseasebreast cancerbreast neoplasm
✦AI Summary

APOBEC3A/B deletion hybrid encodes a cytidine deaminase with dual antiviral and mutagenic functions. The protein catalyzes deamination of cytosine and methylcytosine in single-stranded DNA, targeting foreign genetic elements including viruses and retrotransposons 1. A common 30 kb deletion affecting APOBEC3A and APOBEC3B genes creates a fusion protein with altered activity patterns. At the mechanistic level, APOBEC3A/B induces DNA replication stress by generating single-stranded DNA gaps through PrimPol-mediated repriming, which are subsequently repaired by ATR, RAD51, and translesion synthesis pathways 1. The enzyme generates characteristic APOBEC-associated mutational signatures (SBS2 and SBS13) observed across multiple cancer types and viral infections 2. Clinically, the APOBEC3A/B deletion polymorphism shows complex disease associations. The deletion is associated with reduced endometrial cancer risk, particularly in women aged 50-60 years 3, and exhibits age-dependent effects for lung cancer, with increased risk in individuals under 50 years 4. However, the polymorphism shows no association with HPV infection or cervical carcinogenesis 5. Notably, APOBEC-driven mutagenesis contributes to tumor heterogeneity and evolution, shaping clonal dynamics differently in early versus late cancer stages 6. The presence of APOBEC3A/B deletion combined with viral infection (MMTV-like) predisposes to early-onset breast cancer 7.

Sources cited
1
APOBEC3A induces DNA gaps through PrimPol-mediated repriming and causes replication stress; supports understanding of mechanism and therapeutic vulnerability
PMID: 38241374
2
Confirms APOBEC3A/B generates characteristic SBS2 and SBS13 mutational signatures in viral and patient samples
PMID: 36146883
3
APOBEC3A/B deletion associated with reduced endometrial cancer risk, particularly in ages 50-60
PMID: 36394079
4
Deletion allele associated with increased lung cancer risk in individuals under 50 years; no association with breast or colon cancer overall
PMID: 29140415
5
APOBEC3A/B polymorphism not associated with HPV infection or cervical carcinogenesis in Brazilian women
PMID: 37242306
6
APOBEC activity shapes evolutionary patterns in cancer-associated genes and enhances tumor heterogeneity through bimodal mutation distribution
PMID: 38106028
7
APOBEC3A/B deletion combined with MMTV-like positivity predisposes to early-onset breast cancer in patients under 50 years
PMID: 36980505
Disease Associationsⓘ20
breast carcinomaOpen Targets
0.41Moderate
neurodegenerative diseaseOpen Targets
0.40Weak
breast cancerOpen Targets
0.40Weak
breast neoplasmOpen Targets
0.29Weak
estrogen-receptor positive breast cancerOpen Targets
0.29Weak
urinary bladder carcinomaOpen Targets
0.13Weak
neoplasmOpen Targets
0.10Suggestive
cancerOpen Targets
0.09Suggestive
diffuse large B-cell lymphomaOpen Targets
0.08Suggestive
cervical cancerOpen Targets
0.08Suggestive
infectionOpen Targets
0.07Suggestive
urinary bladder cancerOpen Targets
0.06Suggestive
head and neck squamous cell carcinomaOpen Targets
0.05Suggestive
HIV-1 infectionOpen Targets
0.05Suggestive
endometrial cancerOpen Targets
0.04Suggestive
pancreatic adenocarcinomaOpen Targets
0.04Suggestive
Crohn's diseaseOpen Targets
0.04Suggestive
psoriasisOpen Targets
0.04Suggestive
bladder tumorOpen Targets
0.04Suggestive
squamous cell carcinomaOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
COX7CProtein interaction100%UQCR10Protein interaction100%UQCRFS1Protein interaction100%CYC1Protein interaction100%UQCRBProtein interaction100%UQCRQProtein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
37%
Liver
3%
Heart
1%
Ovary
1%
Brain
1%
Gene Interaction Network
Click a node to explore
APOBEC3A_BCOX7CUQCR10UQCRFS1CYC1UQCRBUQCRQ
PROTEIN STRUCTURE
Preparing viewer…
PDB8FIK · 1.91 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.90LoF Tolerant
pLIⓘ
0.03Tolerant
Observed/Expected LoF0.53 [0.33–0.90]
RankingsWhere APOBEC3A_B stands among ~20K protein-coding genes
  • #15,202of 20,598
    Most Researched16
  • #8,134of 17,882
    Most Constrained (LOEUF)0.90
Genes detectedAPOBEC3A_B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
APOBEC3A/B Polymorphism Is Not Associated with Human Papillomavirus Infection and Cervical Carcinogenesis.
PMID: 37242306
Pathogens · 2023
1.00
2
APOBEC3A/B deletion polymorphism and endometrial cancer risk.
PMID: 36394079
Cancer Med · 2023
0.90
3
APOBEC3A/B deletion polymorphism and cancer risk.
PMID: 29140415
Carcinogenesis · 2018
0.80
4
APOBEC affects tumor evolution and age at onset of lung cancer in smokers.
PMID: 40394004
Nat Commun · 2025
0.70
5
Involvement of APOBEC3A/B Deletion in Mouse Mammary Tumor Virus (MMTV)-like Positive Human Breast Cancer.
PMID: 36980505
Diagnostics (Basel) · 2023
0.60