HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
26 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.
ERCC4
ERCC excision repair 4, endonuclease catalytic subunit
Chromosome 16 Β· 16p13.12
NCBI Gene: 2072Ensembl: ENSG00000175595.16HGNC: HGNC:3436UniProt: A0A1W1GSK9
279PubMed Papers
24Diseases
0Drugs
68Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHomologous RecombinationHub Gene
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleotide-excision repair complexnuclear bodyDNA bindingDNA endonuclease activityxeroderma pigmentosum group FFanconi anemia complementation group QXeroderma pigmentosum complementation group FXFE progeroid syndrome
✦AI Summary

ERCC4 (XPF) is the catalytic subunit of the ERCC1-ERCC4 endonuclease complex, which performs structure-specific DNA cleavage essential for genome maintenance 1. The complex nicks DNA at junctions between double-stranded and single-stranded regions, making the 5' incision critical for nucleotide excision repair (NER) and interstrand crosslink (ICL) repair 1. Beyond NER and ICL repair, ERCC1-ERCC4 participates in double-strand break repair via homologous recombination and non-homologous end-joining, base excision repair, and telomere maintenance through interactions with XPA, RPA, SLX4, and TRF2 1. Notably, ERCC4 processes R-loop-derived cytoplasmic RNA-DNA hybrids in an XPF-dependent manner; aberrant R-loop processing activates innate immune responses through cGAS and TLR3 pattern recognition receptors, inducing apoptosis 2. ERCC4 also functions in preventing chromosome 16 by limiting TA-rich DNA cruciform processing 3. Loss-of-function ERCC4 mutations cause severe inherited disorders including xeroderma pigmentosum, Cockayne syndrome, Fanconi anemia complementation group Q, and XFE progeroid syndrome 1. Heterozygous ERCC4 variants associate with increased sunburn susceptibility 4, while common ERCC4 polymorphisms significantly increase cancer risk, particularly for bladder cancer in Asian populations 5.

Sources cited
1
ERCC1-ERCC4 nuclease structure, function, and role in NER, ICL repair, DSB repair, and telomere maintenance
PMID: 26074087
2
XPF-dependent processing of R-loop-derived cytoplasmic RNA-DNA hybrids and activation of innate immune response
PMID: 36544021
3
ERCC1-ERCC4 role in preventing chromosome breakage by processing TA-rich DNA cruciforms
PMID: 40205037
4
ERCC4 variant association with sunburn susceptibility in heterozygous carriers
PMID: 30665703
5
ERCC4 polymorphisms associated with cancer risk, particularly bladder cancer in Asian populations
PMID: 36033436
Disease Associationsβ“˜24
xeroderma pigmentosum group FOpen Targets
0.82Strong
Fanconi anemia complementation group QOpen Targets
0.81Strong
Xeroderma pigmentosum complementation group FOpen Targets
0.77Strong
XFE progeroid syndromeOpen Targets
0.73Strong
xeroderma pigmentosumOpen Targets
0.66Moderate
xeroderma pigmentosum, type F/Cockayne syndromeOpen Targets
0.63Moderate
Fanconi anemiaOpen Targets
0.60Moderate
Cockayne syndromeOpen Targets
0.55Moderate
acute myeloid leukemiaOpen Targets
0.53Moderate
myelodysplastic syndromeOpen Targets
0.46Moderate
isolated growth hormone deficiency type IAOpen Targets
0.46Moderate
Menkes diseaseOpen Targets
0.46Moderate
neurodegenerative diseaseOpen Targets
0.44Moderate
skin sensitivity to sunOpen Targets
0.44Moderate
spastic ataxiaOpen Targets
0.43Moderate
cutaneous melanomaOpen Targets
0.37Weak
Bone marrow hypocellularityOpen Targets
0.37Weak
colorectal adenocarcinomaOpen Targets
0.37Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.37Weak
hemangioblastomaOpen Targets
0.37Weak
Fanconi anemia complementation group QUniProt
Xeroderma pigmentosum complementation group FUniProt
Xeroderma pigmentosum type F/Cockayne syndromeUniProt
XFE progeroid syndromeUniProt
Pathogenic Variants68
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp)Pathogenic
Xeroderma pigmentosum, type F/Cockayne syndrome|Cockayne syndrome;Xeroderma pigmentosum, group F;Fanconi anemia complementation group Q|XFE progeroid syndrome;Xeroderma pigmentosum, group F;Fanconi anemia complementation group Q|Xeroderma pigmentosum|ERCC4-related disorder|Autosomal recessive cerebellar ataxia
β˜…β˜…β˜†β˜†2026β†’ Residue 589
NM_005236.3(ERCC4):c.1376C>A (p.Ser459Ter)Pathogenic
Xeroderma pigmentosum, group F;Fanconi anemia complementation group Q;Cockayne syndrome|XFE progeroid syndrome;Xeroderma pigmentosum, group F;Fanconi anemia complementation group Q|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 459
NM_005236.3(ERCC4):c.1402del (p.Arg468fs)Pathogenic
Cockayne syndrome;Xeroderma pigmentosum, group F;Fanconi anemia complementation group Q|XFE progeroid syndrome;Xeroderma pigmentosum, group F;Fanconi anemia complementation group Q
β˜…β˜…β˜†β˜†2025β†’ Residue 468
NM_005236.3(ERCC4):c.1349G>A (p.Trp450Ter)Pathogenic
XFE progeroid syndrome;Xeroderma pigmentosum, group F;Fanconi anemia complementation group Q|Fanconi anemia complementation group Q
β˜…β˜…β˜†β˜†2025β†’ Residue 450
NM_005236.3(ERCC4):c.579G>A (p.Trp193Ter)Pathogenic
Cockayne syndrome;Fanconi anemia complementation group Q;Xeroderma pigmentosum, group F|not provided|ERCC4-Related Disorders
β˜…β˜…β˜†β˜†2025β†’ Residue 193
NM_005236.3(ERCC4):c.1102+1G>TLikely pathogenic
Xeroderma pigmentosum, group F;Cockayne syndrome;Fanconi anemia complementation group Q|Xeroderma pigmentosum
β˜…β˜…β˜†β˜†2025
NM_005236.3(ERCC4):c.1197_1198insCA (p.Ala400fs)Pathogenic
not provided|Cockayne syndrome;Fanconi anemia complementation group Q;Xeroderma pigmentosum, group F
β˜…β˜…β˜†β˜†2025β†’ Residue 400
NM_005236.3(ERCC4):c.1417dup (p.Gln473fs)Pathogenic
Xeroderma pigmentosum, group F|Xeroderma pigmentosum, group F;Cockayne syndrome;Fanconi anemia complementation group Q
β˜…β˜…β˜†β˜†2025β†’ Residue 473
NM_005236.3(ERCC4):c.1484_1488del (p.Thr495fs)Pathogenic
Fanconi anemia complementation group Q|Precursor B-cell acute lymphoblastic leukemia|Cockayne syndrome;Xeroderma pigmentosum, group F;Fanconi anemia complementation group Q
β˜…β˜…β˜†β˜†2025β†’ Residue 495
NM_005236.3(ERCC4):c.2065C>A (p.Arg689Ser)Likely pathogenic
Fanconi anemia complementation group Q|Cockayne syndrome;Xeroderma pigmentosum, group F;Fanconi anemia complementation group Q|not provided|XFE progeroid syndrome;Xeroderma pigmentosum, group F;Fanconi anemia complementation group Q|ERCC4-Related Disorders
β˜…β˜…β˜†β˜†2024β†’ Residue 689
NM_005236.3(ERCC4):c.1882_1885del (p.Glu628fs)Pathogenic
Xeroderma pigmentosum, group F;Fanconi anemia complementation group Q;Cockayne syndrome|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 628
NM_005236.3(ERCC4):c.2169C>A (p.Cys723Ter)Pathogenic
Fanconi anemia complementation group Q;Cockayne syndrome;Xeroderma pigmentosum, group F|not provided|Fanconi anemia complementation group Q;Xeroderma pigmentosum, group F;XFE progeroid syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 723
NM_005236.3(ERCC4):c.915del (p.Asn308fs)Pathogenic
not provided|Fanconi anemia complementation group Q;Xeroderma pigmentosum, group F;Cockayne syndrome|XFE progeroid syndrome;Fanconi anemia complementation group Q;Xeroderma pigmentosum, group F
β˜…β˜…β˜†β˜†2024β†’ Residue 308
NM_005236.3(ERCC4):c.938dup (p.Arg314fs)Pathogenic
Xeroderma pigmentosum, group F;Fanconi anemia complementation group Q;Cockayne syndrome|XFE progeroid syndrome;Xeroderma pigmentosum, group F;Fanconi anemia complementation group Q
β˜…β˜…β˜†β˜†2024β†’ Residue 314
NM_005236.3(ERCC4):c.557_558del (p.Phe186fs)Pathogenic
Cockayne syndrome;Xeroderma pigmentosum, group F;Fanconi anemia complementation group Q|Xeroderma pigmentosum, group F
β˜…β˜…β˜†β˜†2023β†’ Residue 186
NM_005236.3(ERCC4):c.706T>C (p.Cys236Arg)Pathogenic
Xeroderma pigmentosum, type F/Cockayne syndrome|not provided|Xeroderma pigmentosum, group F
β˜…β˜…β˜†β˜†2023β†’ Residue 236
NM_005236.3(ERCC4):c.1730dup (p.Tyr577Ter)Pathogenic
Xeroderma pigmentosum, type F/Cockayne syndrome|Spastic ataxia|Cockayne syndrome;Xeroderma pigmentosum, group F;Fanconi anemia complementation group Q
β˜…β˜…β˜†β˜†2021β†’ Residue 577
NM_005236.3(ERCC4):c.886C>T (p.Gln296Ter)Pathogenic
Xeroderma pigmentosum, group F;Fanconi anemia complementation group Q;Cockayne syndrome
β˜…β˜†β˜†β˜†2026β†’ Residue 296
NM_005236.3(ERCC4):c.2074C>T (p.Arg692Ter)Pathogenic
Xeroderma pigmentosum, group F;Cockayne syndrome;Fanconi anemia complementation group Q
β˜…β˜†β˜†β˜†2025β†’ Residue 692
NM_005236.3(ERCC4):c.2314C>T (p.Arg772Ter)Pathogenic
Xeroderma pigmentosum, group F;Cockayne syndrome;Fanconi anemia complementation group Q
β˜…β˜†β˜†β˜†2025β†’ Residue 772
View on ClinVar β†—
Related Genes
ATMProtein interaction100%CETN2Protein interaction100%ERCC8Protein interaction100%ERCC2Protein interaction100%ERCC3Protein interaction100%XPAProtein interaction100%
Tissue Expression6 tissues
Brain
100%
Heart
94%
Ovary
49%
Liver
46%
Lung
34%
Bone Marrow
26%
Gene Interaction Network
Click a node to explore
ERCC4ATMCETN2ERCC8ERCC2ERCC3XPA
PROTEIN STRUCTURE
Preparing viewer…
PDB2A1J Β· 2.70 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.98LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.76 [0.59–0.98]
RankingsWhere ERCC4 stands among ~20K protein-coding genes
  • #1,296of 20,598
    Most Researched279 Β· top 10%
  • #1,062of 5,498
    Most Pathogenic Variants68 Β· top quartile
  • #9,400of 17,882
    Most Constrained (LOEUF)0.98
Genes detectedERCC4
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
R-loop-derived cytoplasmic RNA-DNA hybrids activate an immune response.
PMID: 36544021
Nature Β· 2023
1.00
2
The ERCC1 and ERCC4 (XPF) genes and gene products.
PMID: 26074087
Gene Β· 2015
0.90
3
Comprehensive interrogation of synthetic lethality in the DNA damage response.
PMID: 40205037
Nature Β· 2025
0.80
4
Pathogenic variants reveal candidate genes for prostate cancer germline testing for men of African ancestry.
PMID: 41038821
Nat Commun Β· 2025
0.72
5
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
PMID: 30665703
Am J Hum Genet Β· 2019
0.70