Gene Gene information from NCBI Gene database.
Entrez ID 2072
Gene name ERCC excision repair 4, endonuclease catalytic subunit
Gene symbol ERCC4
Synonyms (NCBI Gene)
ERCC11FANCQRAD1XFEPSXPF
Chromosome 16
Chromosome location 16p13.12
Summary The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5` incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause
SNPs SNP information provided by dbSNP.
14
SNP ID Visualize variation Clinical significance Consequence
rs1799802 C>T Likely-benign, conflicting-interpretations-of-pathogenicity 5 prime UTR variant, missense variant, coding sequence variant
rs121913049 C>G,T Uncertain-significance, pathogenic Coding sequence variant, missense variant
rs121913050 G>A,C,T Pathogenic 5 prime UTR variant, missense variant, coding sequence variant, genic upstream transcript variant
rs147105770 C>G,T Likely-pathogenic, pathogenic Coding sequence variant, missense variant
rs149364215 C>A,T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
471
miRTarBase ID miRNA Experiments Reference
MIRT006456 hsa-miR-192-5p Luciferase reporter assayqRT-PCRWestern blot 21672525
MIRT006456 hsa-miR-192-5p Luciferase reporter assayqRT-PCRWestern blot 21672525
MIRT006456 hsa-miR-192-5p Luciferase reporter assayqRT-PCRWestern blot 21672525
MIRT006456 hsa-miR-192-5p Luciferase reporter assayqRT-PCRWestern blot 21672525
MIRT006456 hsa-miR-192-5p Luciferase reporter assayqRT-PCRWestern blot 21672525
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
FOS Activation 20976523
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
57
GO ID Ontology Definition Evidence Reference
GO:0000014 Function Single-stranded DNA endodeoxyribonuclease activity IBA
GO:0000109 Component Nucleotide-excision repair complex IDA 10644440
GO:0000110 Component Nucleotide-excision repair factor 1 complex IBA
GO:0000110 Component Nucleotide-excision repair factor 1 complex IDA 10413517
GO:0000712 Process Resolution of meiotic recombination intermediates IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
133520 3436 ENSG00000175595
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92889
Protein name DNA repair endonuclease XPF (EC 3.1.-.-) (DNA excision repair protein ERCC-4) (DNA repair protein complementing XP-F cells) (Xeroderma pigmentosum group F-complementing protein)
Protein function Catalytic component of a structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair, and which is essential for nucleotide excision repair (NER) and interstrand cross-link (ICL) repair. {ECO:0000269|PubMed:
PDB 1Z00 , 2A1J , 2AQ0 , 2KN7 , 2MUT , 6SXA , 6SXB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02732 ERCC4 686 816 ERCC4 domain Domain
Sequence
MESGQPARRIAMAPLLEYERQLVLELLDTDGLVVCARGLGADRLLYHFLQLHCHPACLVL
VLNTQPAEEEYFINQLKIEGVEHLPRRVTNEITSNSRYEVYTQGGVIFATSRILVVDFLT
DRIPSDLITGILVYRAHRIIESCQEAFILRLFRQKNKRGFIKAFTDNAVAFDTGFCHVER
VMRNLFVRKLYLWPRFHVAVNSFLEQHKPEVVEIHVSMTPTMLAIQTAILDILNACLKEL
KCHNPSLEVEDLSLENAIGKPFDKTIRHYLDPLWHQLGAKTKSLVQDLKILRTLLQYLSQ
YDCVTFLNLLESLRATEKAFGQNSGWLFLDSSTSMFINARARVYHLPDAKMSKKEKISEK
MEIKEGEETKKELVLESNPKWEALTEVLKEIEAENKESEALGGPGQVLICASDDRTCSQL
RDYITLGAEAFLLRLYRKTFEKDSKAEEVWMKFRKEDSSKRIRKSHKRPKDPQNKERAST
KERTLKKKKRKLTLTQMVGKPEELEEEGDVEEGYRREISSSPESCPEEIKHEEFDVNLSS
DAAFGILKEPLTIIHPLLGCSDPYALTRVLHEVEPRYVVLYDAELTFVRQLEIYRASRPG
KPLRVYFLIYGGSTEEQRYLTALRKEKEAFEKLIREKASMVVPEEREGRDETNLDLVRGT
ASADVSTDTRKAGGQEQNGTQQSIVVDMREFRSELPSLIHRRGIDIEPVTLEVGDYILTP
EMCVERKSISDLIGSLNNGRLYSQCISMSRYYKRPVLLIEFDPSKPFSLTSRGALFQEIS
SNDISSKLTLLTLHFPRLRILWCPSPHATAELFEEL
KQSKPQPDAATALAITADSETLPE
SEKYNPGPQDFLLKMPGVNAKNCRSLMHHVKNIAELAALSQDELTSILGNAANAKQLYDF
IHTSFAEVVSKGKGKK
Sequence length 916
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Nucleotide excision repair
Fanconi anemia pathway
  HDR through Single Strand Annealing (SSA)
Formation of Incision Complex in GG-NER
Dual Incision in GG-NER
Dual incision in TC-NER
Fanconi Anemia Pathway
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2121
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormality of blood and blood-forming tissues Likely pathogenic rs2141946259 RCV001814342
Autosomal recessive cerebellar ataxia Likely pathogenic; Pathogenic rs147105770 RCV005429220
Cockayne syndrome Likely pathogenic; Pathogenic rs1314323456, rs774510191, rs779091652, rs753325454, rs762738968, rs1355878901, rs1419167361, rs2543161072, rs900093826, rs1355589374, rs772432152, rs780647908, rs2543161364, rs750971687, rs201179693
View all (12 more)
RCV001377820
RCV001389442
RCV003772149
RCV001869789
RCV001919468
RCV002037756
RCV001917980
RCV003061403
RCV002595685
RCV002909338
RCV001855213
RCV003782518
RCV003797867
RCV003781269
RCV003781677
RCV003780144
RCV003792893
RCV003792676
RCV003817876
RCV000651478
RCV000822020
RCV005213201
RCV001067959
RCV001853034
RCV000700109
RCV001212995
RCV001239295
ERCC4-related disorder Likely pathogenic; Pathogenic rs147105770 RCV003415812
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Behavioral variant of frontotemporal dementia Uncertain significance rs374243778 RCV002508160
Breast carcinoma Conflicting classifications of pathogenicity rs121913049 RCV001262417
Carcinoma of pancreas Conflicting classifications of pathogenicity rs121913049 RCV001391196
Gastric cancer Uncertain significance; Benign rs180919656, rs11075223 RCV005911256
RCV005893425
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 29739952, 37006075
Adenocarcinoma of Lung Associate 19297315
Anemia Hemolytic Associate 32111838
Atherosclerosis Associate 36071684
Bovine Respiratory Disease Complex Associate 30165384
Breast Diseases Associate 19124519
Breast Neoplasms Associate 18551366, 18701435, 19124519, 19423537, 19920816, 21622940, 21700777, 23852586, 23909490, 24465539, 31499327, 33067872
Breast Neoplasms Inhibit 23852586
Carcinoma Acinar Cell Associate 33202356
Carcinoma Adenoid Cystic Associate 33202356