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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
FAAP100
FA core complex associated protein 100
Chromosome 17 Β· 17q25.3
NCBI Gene: 80233Ensembl: ENSG00000185504.18HGNC: HGNC:26171UniProt: A4ZI32
42PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
DNA Repair
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingchromatinnucleusFanconi anaemia nuclear complexFanconi anemiaprimary ovarian insufficiency46,XX gonadal dysgenesisazoospermia
✦AI Summary

FAAP100 (Fanconi anemia-associated protein 100, also designated FANCX) is a core component of the FA core complex essential for interstrand crosslink (ICL) repair. It forms a catalytic module with FANCB and FANCL, the E3 ubiquitin ligase responsible for monoubiquitination of FANCD2 and FANCI, critical steps in FA pathway activation 1 2. FAAP100 regulates the stability and nuclear translocation of this BLP100 subcomplex, enabling chr17 recruitment necessary for ICL repair 1. Loss of FAAP100 function results in severe FA characterized by developmental abnormalities, pancytopenia, and early lethality, making FAAP100 deficiency among the most severe FA phenotypes 3 1. Beyond Mendelian FA, FAAP100 dysregulation is implicated in cancer progression. Pan-cancer analyses reveal FAAP100 upregulation correlates with poor survival, enhanced cell proliferation and migration, and reduced apoptosis in lung adenocarcinoma and other cancers 4. FAAP100 overexpression associates with copy number amplification and promoter hypomethylation, alongside increased immune cell infiltration and checkpoint molecule activity 4. FAAP100 also appears as a modifier locus in strabismus genetics 5. These findings establish FAAP100 as both a critical FA pathway component and a potential cancer biomarker and therapeutic target.

Sources cited
1
Homozygous loss-of-function variants in FAAP100 cause severe FA with developmental abnormalities and early lethality
PMID: 40244696
2
FAAP100 forms the BLP100 catalytic module with FANCB and FANCL for FANCD2/FANCI monoubiquitination; mutations disrupt this complex and cause FA
PMID: 40232843
3
FAAP100 with FANCB and FANCL forms a dimer of trimers essential for symmetric mono-ubiquitination of FANCI-FANCD2
PMID: 27986592
4
FAAP100 is upregulated in multiple cancers, correlates with poor survival, enhances proliferation/migration, and is associated with copy number amplification and promoter hypomethylation
PMID: 40541815
5
FAAP100 locus is associated with strabismus risk
PMID: 40849414
Disease Associationsβ“˜21
Fanconi anemiaOpen Targets
0.37Weak
primary ovarian insufficiencyOpen Targets
0.09Suggestive
46,XX gonadal dysgenesisOpen Targets
0.08Suggestive
azoospermiaOpen Targets
0.07Suggestive
Kallmann syndromeOpen Targets
0.06Suggestive
Testicular regression syndromeOpen Targets
0.06Suggestive
46,XX testicular disorder of sex developmentOpen Targets
0.06Suggestive
Isolated follicle stimulating hormone deficiencyOpen Targets
0.06Suggestive
46,XY complete gonadal dysgenesisOpen Targets
0.06Suggestive
partial chromosome Y deletionOpen Targets
0.06Suggestive
Hypergonadotropic hypogonadism - cataract syndromeOpen Targets
0.06Suggestive
hypergonadotropic hypogonadism-cataract syndromeOpen Targets
0.06Suggestive
ovarian dysgenesis 10Open Targets
0.06Suggestive
Familial hyperprolactinemiaOpen Targets
0.06Suggestive
familial hyperprolactinemiaOpen Targets
0.06Suggestive
ovarian dysgenesis 9Open Targets
0.05Suggestive
spinocerebellar ataxia type 32Open Targets
0.05Suggestive
hypogonadotropic hypogonadismOpen Targets
0.05Suggestive
46,XY gonadal dysgenesis - motor and sensory neuropathyOpen Targets
0.05Suggestive
46,XY gonadal dysgenesis-motor and sensory neuropathy syndromeOpen Targets
0.05Suggestive
Fanconi anemia, complementation group XUniProt
Pathogenic Variants4
NM_025161.6(FAAP100):c.2311-1G>ALikely pathogenic
Fanconi anemia, complementation group 10
β˜…β˜†β˜†β˜†2025
NM_025161.6(FAAP100):c.2590C>T (p.Gln864Ter)Pathogenic
Fanconi anemia, complementation group 10
β˜†β˜†β˜†β˜†2025β†’ Residue 864
NM_025161.6(FAAP100):c.1624A>C (p.Thr542Pro)Pathogenic
Fanconi anemia, complementation group 10
β˜†β˜†β˜†β˜†2025β†’ Residue 542
NM_025161.6(FAAP100):c.1151_1161del (p.Glu384fs)Pathogenic
Fanconi anemia, complementation group 10
β˜†β˜†β˜†β˜†2025β†’ Residue 384
View on ClinVar β†—
Related Genes
EXO5Shared pathway100%FANCEProtein interaction100%FANCCProtein interaction100%FANCD2Protein interaction100%HES1Protein interaction100%TOP3AProtein interaction100%
Tissue Expression6 tissues
Liver
100%
Lung
87%
Ovary
86%
Bone Marrow
49%
Heart
42%
Brain
34%
Gene Interaction Network
Click a node to explore
FAAP100EXO5FANCEFANCCFANCD2HES1TOP3A
PROTEIN STRUCTURE
Preparing viewer…
PDB7KZP Β· 3.10 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.08LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.84 [0.66–1.08]
RankingsWhere FAAP100 stands among ~20K protein-coding genes
  • #9,868of 20,598
    Most Researched42
  • #3,807of 5,498
    Most Pathogenic Variants4
  • #10,903of 17,882
    Most Constrained (LOEUF)1.08
Genes detectedFAAP100
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PMID: 20301575
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) Β· 2024
0.90
3
FAAP100:A biomarker based on pan-cancer analysis, promotes the progression of lung adenocarcinoma.
PMID: 40541815
Cell Signal Β· 2025
0.80
4
Deficiency of the Fanconi anemia core complex protein FAAP100 results in severe Fanconi anemia.
PMID: 40244696
J Clin Invest Β· 2025
0.70
5
Genetic inactivation of FAAP100 causes Fanconi anemia due to disruption of the monoubiquitin ligase core complex.
PMID: 40232843
J Clin Invest Β· 2025
0.60