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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.
FANCB
FA complementation group B
Chromosome X Β· Xp22.2
NCBI Gene: 2187Ensembl: ENSG00000181544.16HGNC: HGNC:3583UniProt: A0A8Q3WL66
50PubMed Papers
21Diseases
0Drugs
29Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHighly Constrained
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingchromatinFanconi anaemia nuclear complexreplication-born double-strand break repair via sister chromatid exchangeFanconi anemiaVACTERL with hydrocephalusVACTERL association, X-linked, with or without hydrocephalusacute myeloid leukemia
✦AI Summary

FANCB is an X-linked DNA repair protein essential for the Fanconi anemia (FA) pathway. As a core component of the FA complex, FANCB functions upstream in the DNA damage response network to facilitate monoubiquitination of the downstream FA protein FANCD2 1. This process is critical for interstrand crosslink repair and replication-associated double-strand break repair via homologous recombination. FANCB operates within a coordinated pathway including FA proteins (FANCA, FANCC, FANCE, FANCF, FANCG, FANCL) that respond to DNA damage and replication stress 1. Mutations in FANCB cause Fanconi anemia complementation group B, a rare hereditary disorder characterized by genomic instability and cancer predisposition. The X-linked nature of FANCB, combined with X-inactivation mechanisms, means affected individuals have only a single active copy, making this component particularly vulnerable in maintaining genomic integrity 1. Notably, screening of BRCA1/2-negative hereditary breast cancer families found no FANCB mutations, suggesting FANCB does not represent a major contributor to inherited breast cancer susceptibility in this population 2.

Sources cited
1
FANCB is the X-linked FA core complex protein that functions upstream of FANCD2 monoubiquitination in DNA damage response; contains single active copy due to X-inactivation
PMID: 15611632
2
FANCB screening in BRCA1/2-negative breast cancer families found no pathogenic mutations, ruling out major contribution to hereditary breast cancer
PMID: 18302019
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
Fanconi anemiaOpen Targets
0.82Strong
VACTERL with hydrocephalusOpen Targets
0.65Moderate
VACTERL association, X-linked, with or without hydrocephalusOpen Targets
0.57Moderate
acute myeloid leukemiaOpen Targets
0.47Moderate
Bone marrow hypocellularityOpen Targets
0.46Moderate
myelodysplastic syndromeOpen Targets
0.46Moderate
Menkes diseaseOpen Targets
0.46Moderate
head and neck malignant neoplasiaOpen Targets
0.37Weak
anorectal malformationOpen Targets
0.37Weak
Fanconi anemia complementation group COpen Targets
0.37Weak
retinoschisisOpen Targets
0.27Weak
Abnormal posterior eye segment morphologyOpen Targets
0.24Weak
neurodegenerative diseaseOpen Targets
0.21Weak
genetic disorderOpen Targets
0.19Weak
glioma susceptibility 1Open Targets
0.12Weak
breast cancerOpen Targets
0.11Weak
neoplasmOpen Targets
0.10Suggestive
azoospermiaOpen Targets
0.08Suggestive
cancerOpen Targets
0.07Suggestive
partial chromosome Y deletionOpen Targets
0.06Suggestive
Fanconi anemia complementation group BUniProt
Pathogenic Variants29
NM_001018113.3(FANCB):c.851del (p.Pro284fs)Pathogenic
FANCB-related disorder|Fanconi anemia
β˜…β˜…β˜†β˜†2023β†’ Residue 284
NM_001018113.3(FANCB):c.781C>T (p.Arg261Ter)Pathogenic
Fanconi anemia|Fanconi anemia complementation group B
β˜…β˜…β˜†β˜†2023β†’ Residue 261
NM_001018113.3(FANCB):c.101del (p.Asp34fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 34
NM_001018113.3(FANCB):c.1857_1858del (p.Arg619fs)Pathogenic
Fanconi anemia complementation group B|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 619
NM_001018113.3(FANCB):c.1570C>T (p.Gln524Ter)Likely pathogenic
Fanconi anemia complementation group B
β˜…β˜†β˜†β˜†2023β†’ Residue 524
NM_001018113.3(FANCB):c.455_458del (p.Phe152fs)Pathogenic
Fanconi anemia
β˜…β˜†β˜†β˜†2023β†’ Residue 152
NM_001018113.3(FANCB):c.195dup (p.Thr66fs)Pathogenic
Fanconi anemia complementation group B
β˜…β˜†β˜†β˜†2023β†’ Residue 66
NM_001018113.3(FANCB):c.972del (p.Lys324fs)Likely pathogenic
Fanconi anemia complementation group B
β˜…β˜†β˜†β˜†2023β†’ Residue 324
NM_001018113.3(FANCB):c.1159_1162dup (p.Tyr388fs)Pathogenic
Fanconi anemia
β˜…β˜†β˜†β˜†2023β†’ Residue 388
NM_001018113.3(FANCB):c.1105-2A>GLikely pathogenic
FANCB-related disorder
β˜…β˜†β˜†β˜†2022
NM_001018113.3(FANCB):c.1437G>A (p.Trp479Ter)Pathogenic
Fanconi anemia
β˜…β˜†β˜†β˜†2020β†’ Residue 479
NM_001018113.3(FANCB):c.1668del (p.Asp557fs)Pathogenic
not provided|Fanconi anemia complementation group B
β˜…β˜†β˜†β˜†2020β†’ Residue 557
NC_000023.11:g.(?_14857852)_(14859344_?)delLikely pathogenic
Fanconi anemia
β˜…β˜†β˜†β˜†2018
NM_001018113.3(FANCB):c.235T>C (p.Cys79Arg)Likely pathogenic
Fanconi anemia
β˜…β˜†β˜†β˜†2016β†’ Residue 79
NM_001018113.3(FANCB):c.1695_1698del (p.Cys566fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2015β†’ Residue 566
NM_001018113.3(FANCB):c.1811_1814del (p.Arg604fs)Pathogenic
Fanconi anemia complementation group B
β˜†β˜†β˜†β˜†2020β†’ Residue 604
NM_001018113.3(FANCB):c.1103C>A (p.Ser368Ter)Pathogenic
Fanconi anemia complementation group B
β˜†β˜†β˜†β˜†2020β†’ Residue 368
NM_001018113.3(FANCB):c.986T>C (p.Leu329Pro)Pathogenic
Fanconi anemia complementation group B
β˜†β˜†β˜†β˜†2020β†’ Residue 329
NM_001018113.3(FANCB):c.949C>T (p.Gln317Ter)Pathogenic
Fanconi anemia complementation group B
β˜†β˜†β˜†β˜†2020β†’ Residue 317
NM_001018113.3(FANCB):c.829dup (p.Cys277fs)Pathogenic
Fanconi anemia complementation group B
β˜†β˜†β˜†β˜†2020β†’ Residue 277
View on ClinVar β†—
Related Genes
ERCC4Protein interaction100%SLX4Protein interaction100%CENPXProtein interaction100%CENPSProtein interaction100%MUS81Protein interaction100%HES1Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
15%
Ovary
6%
Lung
5%
Heart
2%
Liver
1%
Gene Interaction Network
Click a node to explore
FANCBERCC4SLX4CENPXCENPSMUS81HES1
PROTEIN STRUCTURE
Preparing viewer…
PDB7KZP Β· 3.10 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.27Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.13 [0.07–0.27]
RankingsWhere FANCB stands among ~20K protein-coding genes
  • #8,807of 20,598
    Most Researched50
  • #1,853of 5,498
    Most Pathogenic Variants29
  • #911of 17,882
    Most Constrained (LOEUF)0.27 Β· top 10%
Genes detectedFANCB
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
BRCA2 gene mutation in cancer.
PMID: 36397405
Medicine (Baltimore) Β· 2022
1.00
2
The BRCA1 and BRCA2 Genes in Early-Onset Breast Cancer Patients.
PMID: 29687286
Adv Exp Med Biol Β· 2020
0.90
3
New advances in the DNA damage response network of Fanconi anemia and BRCA proteins. FAAP95 replaces BRCA2 as the true FANCB protein.
PMID: 15611632
Cell Cycle Β· 2005
0.80
4
Which Genes for Hereditary Breast Cancer?
PMID: 33471975
N Engl J Med Β· 2021
0.70
5
Diagnosing ovarian cancer.
PMID: 30348741
CMAJ Β· 2018
0.60