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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.
ERCC6
ERCC excision repair 6, chromatin remodeling factor
Chromosome 10 Β· 10q11.23
NCBI Gene: 2074Ensembl: ENSG00000225830.17HGNC: HGNC:3438UniProt: P0DP91
274PubMed Papers
26Diseases
0Drugs
351Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHub GeneTranscription Factor
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
ATP-dependent chromatin remodeler activityresponse to oxidative stressDNA bindingchromatin bindingCockayne syndrome type 2cerebrooculofacioskeletal syndrome 1Cockayne syndromede Sanctis-Cacchione syndrome
✦AI Summary

ERCC6 is an essential ATP-dependent chr10 remodeling factor that functions primarily in transcription-coupled nucleotide excision repair (TC-NER) 1. It recognizes RNA polymerase II stalled at DNA lesions and recruits ERCC8/CSA and TFIIH to initiate damage excision, while locally modifying DNA conformation to facilitate repair 1. Beyond TC-NER, ERCC6 functions in double-strand break (DSB) repair by promoting homologous recombination while inhibiting non-homologous end joining, and activates ATM/CHEK2-dependent DNA damage checkpoints [UniProt references]. ERCC6 also regulates chr10 structure by evicting histones flanking DSBs, thereby promoting BRCA1-mediated repair [UniProt references]. ERCC6 mutations cause severe inherited diseases including Cockayne syndrome B and cerebro-oculo-facio-skeletal syndrome, characterized by profound photosensitivity and neurodegeneration 2. CSB-deficient mice and humans show distinct phenotypes due to R-loop formation at neuronal genes abundant in human but not mouse genomes 3. Endogenous formaldehyde-induced transcriptional stress exacerbates disease severity in CSB-deficient models 4. ERCC6 dysfunction is also implicated in age-related macular degeneration, with reduced expression in early AMD retinal epithelium 5, premature ovarian failure 6, and cisplatin resistance in osteosarcoma through PI3K/AKT pathway modulation 7. ERCC6 polymorphisms associate with increased cancer susceptibility 8.

Sources cited
1
ERCC6 directs excision nuclease to RNA polymerase stalled at lesions, ensuring preferential transcribed strand repair
PMID: 8393197
2
ERCC6 mutations cause cerebro-oculo-facio-skeletal syndrome with defects in transcription-coupled NER pathway
PMID: 20687508
3
CSB/ERCC6 deficiency promotes R-loop formation at neuronal genes, explaining differential human vs. mouse Cockayne Syndrome phenotypes
PMID: 39019869
4
CSB/ERCC6 provides protection against formaldehyde-induced transcriptional stress and suppresses anorexic GDF15 signaling
PMID: 34819667
5
ERCC6 expression is reduced 50% in early AMD-affected retinal pigment epithelium compared to healthy eyes
PMID: 21072178
6
ERCC6 is associated with nonsyndromic primary ovarian insufficiency through meiosis/DNA repair pathways
PMID: 34794894
7
ERCC6 knockdown enhances cisplatin sensitivity in osteosarcoma by affecting PI3K/AKT signaling and BAX alternative splicing
PMID: 40476445
8
ERCC6 rs2228526 polymorphism associates with increased cancer risk across multiple genetic models
PMID: 35463969
Disease Associationsβ“˜26
Cockayne syndrome type 2Open Targets
0.84Strong
cerebrooculofacioskeletal syndrome 1Open Targets
0.77Strong
Cockayne syndromeOpen Targets
0.73Strong
de Sanctis-Cacchione syndromeOpen Targets
0.73Strong
UV-sensitive syndrome 1Open Targets
0.72Strong
premature ovarian failure 11Open Targets
0.71Strong
UV-sensitive syndromeOpen Targets
0.62Moderate
Cockayne spectrum with or without cerebrooculofacioskeletal syndromeOpen Targets
0.58Moderate
lung cancerOpen Targets
0.56Moderate
genetic disorderOpen Targets
0.54Moderate
Joubert syndrome and related disordersOpen Targets
0.53Moderate
lung carcinomaOpen Targets
0.45Moderate
COFS syndromeOpen Targets
0.42Moderate
genetic non-acquired premature ovarian failureOpen Targets
0.40Weak
Hernia of the abdominal wallOpen Targets
0.40Weak
age-related macular degenerationOpen Targets
0.40Weak
primary ovarian insufficiencyOpen Targets
0.37Weak
Cockayne syndrome type 1Open Targets
0.37Weak
Cockayne syndrome type 3Open Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.27Weak
Cerebro-oculo-facio-skeletal syndrome 1UniProt
Cockayne syndrome BUniProt
De Sanctis-Cacchione syndromeUniProt
Macular degeneration, age-related, 5UniProt
Premature ovarian failure 11UniProt
UV-sensitive syndrome 1UniProt
Pathogenic Variants351
NM_000124.4(ERCC6):c.439dup (p.Leu147fs)Pathogenic
not provided|Cockayne syndrome type 2|ERCC6-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 147
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter)Pathogenic
Cockayne syndrome type 2|not provided|ERCC6-related disorder|DE SANCTIS-CACCHIONE SYNDROME|Cockayne syndrome|Inborn genetic diseases|7 conditions
β˜…β˜…β˜†β˜†2026β†’ Residue 723
NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter)Pathogenic
Cockayne syndrome type 2|DE SANCTIS-CACCHIONE SYNDROME;Cerebrooculofacioskeletal syndrome 1;Cockayne syndrome type 2|not provided|Cockayne syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 652
NM_000124.4(ERCC6):c.2792_2802del (p.Ile931fs)Pathogenic
not provided|7 conditions
β˜…β˜…β˜†β˜†2026β†’ Residue 931
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter)Pathogenic
Cockayne syndrome type 2|Cerebrooculofacioskeletal syndrome 1;DE SANCTIS-CACCHIONE SYNDROME;Cockayne syndrome type 2|7 conditions|not provided|7 conditions
β˜…β˜…β˜†β˜†2026β†’ Residue 453
NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs)Pathogenic
Cockayne syndrome type 2|DE SANCTIS-CACCHIONE SYNDROME;Cerebrooculofacioskeletal syndrome 1;Cockayne syndrome type 2|not provided|Cockayne syndrome|7 conditions
β˜…β˜…β˜†β˜†2026β†’ Residue 1318
NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter)Pathogenic
DE SANCTIS-CACCHIONE SYNDROME;Cockayne syndrome type 2;Cerebrooculofacioskeletal syndrome 1|not provided|Cockayne syndrome type 2|Inborn genetic diseases|Cockayne syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 176
NM_000124.4(ERCC6):c.2569C>T (p.Arg857Ter)Pathogenic
DE SANCTIS-CACCHIONE SYNDROME;Cockayne syndrome type 2;Cerebrooculofacioskeletal syndrome 1|not provided|ERCC6-related disorder|Cockayne syndrome type 2|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 857
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter)Pathogenic
DE SANCTIS-CACCHIONE SYNDROME|Cockayne syndrome type 2|ERCC6-related disorder|not provided|Cerebrooculofacioskeletal syndrome 1|7 conditions
β˜…β˜…β˜†β˜†2025β†’ Residue 735
NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter)Pathogenic
Cockayne syndrome type 2|not provided|DE SANCTIS-CACCHIONE SYNDROME|7 conditions|6 conditions
β˜…β˜…β˜†β˜†2025β†’ Residue 156
NM_000124.4(ERCC6):c.1919G>A (p.Trp640Ter)Pathogenic
not provided|Cockayne syndrome type 2
β˜…β˜…β˜†β˜†2025β†’ Residue 640
NM_000124.4(ERCC6):c.2060C>T (p.Ser687Leu)Pathogenic
DE SANCTIS-CACCHIONE SYNDROME;Cockayne syndrome type 2;Cerebrooculofacioskeletal syndrome 1|Cockayne syndrome type 2|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 687
NM_000124.4(ERCC6):c.3500del (p.Ala1167fs)Pathogenic
not provided|Cockayne syndrome type 2
β˜…β˜…β˜†β˜†2025β†’ Residue 1167
NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter)Pathogenic
Cerebrooculofacioskeletal syndrome 1|ERCC6-related disorder|not provided|DE SANCTIS-CACCHIONE SYNDROME|7 conditions|Cockayne syndrome type 2
β˜…β˜…β˜†β˜†2025β†’ Residue 683
NM_000124.4(ERCC6):c.2599-26A>GPathogenic
Cockayne syndrome type 2|DE SANCTIS-CACCHIONE SYNDROME;Cerebrooculofacioskeletal syndrome 1;Cockayne syndrome type 2|not provided|Cockayne syndrome|7 conditions|ERCC6-related disorder
β˜…β˜…β˜†β˜†2025
NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter)Pathogenic
not provided|Inborn genetic diseases|DE SANCTIS-CACCHIONE SYNDROME|Cerebrooculofacioskeletal syndrome 1|7 conditions
β˜…β˜…β˜†β˜†2025β†’ Residue 612
NM_000124.4(ERCC6):c.145del (p.Ser49fs)Pathogenic
not provided|Cockayne spectrum with or without cerebrooculofacioskeletal syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 49
NM_000124.4(ERCC6):c.61C>T (p.Gln21Ter)Pathogenic
DE SANCTIS-CACCHIONE SYNDROME;Cockayne syndrome type 2;Cerebrooculofacioskeletal syndrome 1|not provided|See cases|ERCC6-related disorder|Cockayne syndrome|7 conditions
β˜…β˜…β˜†β˜†2025β†’ Residue 21
NM_000124.4(ERCC6):c.2800C>A (p.Pro934Thr)Likely pathogenic
not provided|Cockayne syndrome type 2|Cockayne syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 934
NM_000124.4(ERCC6):c.2286+1G>APathogenic
DE SANCTIS-CACCHIONE SYNDROME;Cerebrooculofacioskeletal syndrome 1;Cockayne syndrome type 2|not provided|7 conditions
β˜…β˜…β˜†β˜†2025
View on ClinVar β†—
Related Genes
XPAProtein interaction100%CUL4AProtein interaction100%ELOCProtein interaction100%SUPT5HProtein interaction100%SUPT4H1Protein interaction100%TCEA1Protein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
71%
Ovary
43%
Brain
36%
Liver
35%
Lung
27%
Gene Interaction Network
Click a node to explore
ERCC6XPACUL4AELOCSUPT5HSUPT4H1TCEA1
PROTEIN STRUCTURE
Preparing viewer…
PDB4CVO Β· 1.85 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.80LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.68 [0.58–0.80]
RankingsWhere ERCC6 stands among ~20K protein-coding genes
  • #1,334of 20,598
    Most Researched274 Β· top 10%
  • #165of 5,498
    Most Pathogenic Variants351 Β· top 5%
  • #6,689of 17,882
    Most Constrained (LOEUF)0.80
Genes detectedERCC6
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Genetics of ovarian insufficiency and defects of folliculogenesis.
PMID: 34794894
Best Pract Res Clin Endocrinol Metab Β· 2022
1.00
2
Cerebro-oculo-facio-skeletal syndrome.
PMID: 20687508
Adv Exp Med Biol Β· 2010
0.90
3
A Dual Approach with Organoid and CRISPR Screening Reveals ERCC6 as a Determinant of Cisplatin Resistance in Osteosarcoma.
PMID: 40476445
Adv Sci (Weinh) Β· 2025
0.80
4
Transcription-coupled DNA-protein crosslink repair by CSB and CRL4
PMID: 38600236
Nat Cell Biol Β· 2024
0.72
5
Nucleotide excision repair.
PMID: 8393197
Photochem Photobiol Β· 1993
0.70