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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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FAAP20
FA core complex associated protein 20
Chromosome 1 · 1p36.33
NCBI Gene: 199990Ensembl: ENSG00000162585.17HGNC: HGNC:26428UniProt: F6S8H2
42PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA Repair
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingpolyubiquitin modification-dependent protein bindingnucleoplasmchromosomegouthypertrophic cardiomyopathyhypertensionasthma
✦AI Summary

FAAP20 (Fanconi Anemia Associated Protein 20) is a critical component of the Fanconi anemia (FA) core complex that plays essential roles in DNA damage response and repair. The protein functions as a ubiquitin reader, specifically recognizing K63-linked polyubiquitin chains through its conserved ubiquitin-binding zinc-finger (UBZ) domain to recruit the FA complex to DNA interstrand cross-links (ICLs) 1. Beyond canonical ubiquitin recognition, FAAP20's C-terminal tail forms an extended β-loop that enhances binding specificity and affinity, with the invariant C-terminal tryptophan being indispensable for function 1. FAAP20 promotes homology-directed repair of DNA double-strand breaks through both FANCA-dependent and FANCA-independent mechanisms, supporting homologous recombination and single-strand annealing pathways 2. The protein also facilitates translesion synthesis by interacting with REV1 through distinct binding surfaces on its UBZ4 domain 3. Loss of FAAP20 results in hematopoietic stem cell depletion under genotoxic stress and causes cellular hypersensitivity to DNA crosslinking agents 4. Clinically, FAAP20 mutations contribute to chemotherapy resistance in colorectal cancer by enhancing DNA repair pathway activation 5, while its loss in Antarctic icefish may contribute to their unique hematological adaptations 6.

Sources cited
1
FAAP20 contains a ubiquitin-binding zinc-finger domain and its C-terminal tail enhances ubiquitin binding specificity
PMID: 25414354
2
FAAP20 plays essential roles in homology-directed repair through both FANCA-dependent and independent mechanisms
PMID: 37620397
3
FAAP20-UBZ4 domain interacts with Rev1-BRCT domain through distinct binding surfaces
PMID: 26318859
4
Loss of FAAP20 causes hematopoietic stem cell depletion under genotoxic stress
PMID: 25917546
5
FAAP20 contributes to chemotherapy resistance by enhancing DNA repair pathways
PMID: 39397154
6
FAAP20 loss in Antarctic icefish may relate to their unique hematological characteristics
PMID: 39558275
Disease Associationsⓘ20
goutOpen Targets
0.29Weak
hypertrophic cardiomyopathyOpen Targets
0.23Weak
hypertensionOpen Targets
0.19Weak
asthmaOpen Targets
0.15Weak
cancerOpen Targets
0.05Suggestive
coronary artery diseaseOpen Targets
0.05Suggestive
primary ovarian insufficiencyOpen Targets
0.04Suggestive
46,XY complete gonadal dysgenesisOpen Targets
0.04Suggestive
Testicular regression syndromeOpen Targets
0.04Suggestive
ring chromosome YOpen Targets
0.04Suggestive
partial chromosome Y deletionOpen Targets
0.04Suggestive
spinocerebellar ataxia type 32Open Targets
0.04Suggestive
46,XX ovotesticular disorder of sex developmentOpen Targets
0.04Suggestive
46,XX testicular disorder of sex developmentOpen Targets
0.04Suggestive
tetragametic chimerismOpen Targets
0.04Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.04Suggestive
Isolated follicle stimulating hormone deficiencyOpen Targets
0.04Suggestive
46,XY partial gonadal dysgenesisOpen Targets
0.03Suggestive
46,XX gonadal dysgenesisOpen Targets
0.03Suggestive
hypogonadotropic hypogonadism 12 with or without anosmiaOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FANCAProtein interaction100%FANCCProtein interaction100%UBE2TProtein interaction100%FANCIProtein interaction100%FANCMProtein interaction100%SLX4Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Ovary
93%
Lung
78%
Brain
41%
Bone Marrow
41%
Heart
29%
Gene Interaction Network
Click a node to explore
FAAP20FANCAFANCCUBE2TFANCIFANCMSLX4
PROTEIN STRUCTURE
Preparing viewer…
PDB3WWQ · 1.90 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.34LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.87 [0.58–1.34]
RankingsWhere FAAP20 stands among ~20K protein-coding genes
  • #9,869of 20,598
    Most Researched42
  • #14,020of 17,882
    Most Constrained (LOEUF)1.34
Genes detectedFAAP20
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Post-translational modification of RNA m6A demethylase ALKBH5 regulates ROS-induced DNA damage response.
PMID: 34048572
Nucleic Acids Res · 2021
1.00
2
Somatic gene mutations involved in DNA damage response/Fanconi anemia signaling are tissue- and cell-type specific in human solid tumors.
PMID: 39421870
Front Med (Lausanne) · 2024
0.90
3
Aberrant FAM135B attenuates the efficacy of chemotherapy in colorectal cancer by modulating SRSF1-mediated alternative splicing.
PMID: 39397154
Oncogene · 2024
0.80
4
Gene loss in Antarctic icefish: evolutionary adaptations mimicking Fanconi Anemia?
PMID: 39558275
BMC Genomics · 2024
0.70
5
Fanconi anemia associated protein 20 (FAAP20) plays an essential role in homology-directed repair of DNA double-strand breaks.
PMID: 37620397
Commun Biol · 2023
0.60