Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2072
Gene name Gene Name - the full gene name approved by the HGNC.
ERCC excision repair 4, endonuclease catalytic subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ERCC4
Synonyms (NCBI Gene) Gene synonyms aliases
ERCC11, FANCQ, RAD1, XFEPS, XPF
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p13.12
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT006456 hsa-miR-192-5p Luciferase reporter assay, qRT-PCR, Western blot 21672525
MIRT006456 hsa-miR-192-5p Luciferase reporter assay, qRT-PCR, Western blot 21672525
MIRT006456 hsa-miR-192-5p Luciferase reporter assay, qRT-PCR, Western blot 21672525
MIRT006456 hsa-miR-192-5p Luciferase reporter assay, qRT-PCR, Western blot 21672525
MIRT006456 hsa-miR-192-5p Luciferase reporter assay, qRT-PCR, Western blot 21672525
Transcription factors
Transcription factor Regulation Reference
FOS Activation 20976523
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
133520 3436 ENSG00000175595
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Fanconi Anemia Fanconi anemia complementation group Q rs397509400, rs149364215, rs397509401, rs397509402 N/A
Xeroderma Pigmentosum xeroderma pigmentosum, group f, xeroderma pigmentosum rs397509401, rs397509403, rs147105770, rs869025184 N/A
XFE Progeroid Syndrome xfe progeroid syndrome rs121913050 N/A
Spastic Ataxia spastic ataxia rs397509404 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma, Asthma (childhood onset) N/A N/A GWAS
Astrocytoma Pilocytic astrocytoma N/A N/A GWAS
hutchinson-gilford syndrome Hutchinson-Gilford syndrome N/A N/A ClinVar
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Associations from Text Mining Disease 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