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 of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6).[provided by RefSeq, Mar 2009] See more...

Aliases for ERCC4 Gene

Aliases for ERCC4 Gene

  • ERCC Excision Repair 4, Endonuclease Catalytic Subunit 2 3 5
  • Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 4 2 3
  • Xeroderma Pigmentosum Group F-Complementing Protein 3 4
  • Xeroderma Pigmentosum, Complementation Group F 2 3
  • Excision Repair Cross-Complementation Group 4 2 3
  • DNA Repair Protein Complementing XP-F Cells 3 4
  • DNA Excision Repair Protein ERCC-4 3 4
  • DNA Repair Endonuclease XPF 3 4
  • ERCC11 3 4
  • FANCQ 2 3
  • RAD1 2 3
  • XPF 3 4
  • Excision-Repair, Complementing Defective, In Chinese Hamster 3
  • EC 3.1.-.- 4
  • XFEPS 3
  • ERCC4 5

External Ids for ERCC4 Gene

Previous HGNC Symbols for ERCC4 Gene

  • XPF

Previous GeneCards Identifiers for ERCC4 Gene

  • GC16P013959
  • GC16P014166
  • GC16P013980
  • GC16P013922
  • GC16P014014

Summaries for ERCC4 Gene

Entrez Gene Summary for ERCC4 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 of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6).[provided by RefSeq, Mar 2009]

GeneCards Summary for ERCC4 Gene

ERCC4 (ERCC Excision Repair 4, Endonuclease Catalytic Subunit) is a Protein Coding gene. Diseases associated with ERCC4 include Xeroderma Pigmentosum, Complementation Group F and Fanconi Anemia, Complementation Group Q. Among its related pathways are Transcription-Coupled Nucleotide Excision Repair (TC-NER) and DNA Double-Strand Break Repair. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and protein N-terminus binding.

UniProtKB/Swiss-Prot Summary for ERCC4 Gene

  • Catalytic component of a structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair. Involved in homologous recombination that assists in removing interstrand cross-link.

Gene Wiki entry for ERCC4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ERCC4 Gene

Genomics for ERCC4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ERCC4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J013919 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 262.4 +0.1 140 3 ZNF654 ZNF207 ZNF600 KLF9 POLR2A CHD4 YY1 MXD4 CTCF FOXA1 ERCC4 lnc-PARN-13 lnc-PARN-15 MRTFB
GH16J013955 Enhancer 1.2 FANTOM5 ENCODE 30.9 +37.3 37250 3.8 NCOR1 IKZF1 SSRP1 JUND ZNF580 CEBPA ZNF10 NFIC ZIC2 BCL11A HSALNG0109712 ERCC4 PARN PKD1P3 BFAR NPIPA3 RPS26P52 NPIPA1 NPIPA2 PLA2G10
GH16J014337 Enhancer 1.3 Ensembl ENCODE dbSUPER 28.4 +417.6 417634 1.1 SSRP1 KLF9 CEBPA BRCA1 YY1 MXD4 FOXA1 ZFP64 HOMEZ KMT2B PKD1P3 NPIPA2 NPIPA3 NPIPA1 PARN NPIPP1 ERCC4 LOC100505915 ENSG00000261819 MIR193B
GH16J014497 Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.9 +579.9 579935 8.7 BCLAF1 ZNF600 MYC SSRP1 JUND ZNF580 ZNF592 ZMYM3 KLF9 CEBPA HSALNG0109747 PARN BFAR MIR193B ERCC4 RPS26P52 LOC100505915 HSALNG0109746 LOC107984865 MRTFB
GH16J013940 Enhancer 0.6 ENCODE 21.4 +20.5 20497 0.8 MAFF RXRA ZNF316 MAFK HNF4A MAFG RAD21 MAX SP1 GATA2 ERCC4 ENSG00000262732 HSALNG0109709 MRTFB
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ERCC4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ERCC4

Top Transcription factor binding sites by QIAGEN in the ERCC4 gene promoter:
  • AhR
  • AP-1
  • Arnt
  • c-Fos
  • c-Jun
  • FOXO4
  • NF-1
  • p53
  • RFX1

Genomic Locations for ERCC4 Gene

Latest Assembly
chr16:13,920,137-13,952,348
(GRCh38/hg38)
Size:
32,212 bases
Orientation:
Plus strand

Previous Assembly
chr16:14,014,011-14,046,205
(GRCh37/hg19 by Entrez Gene)
Size:
32,195 bases
Orientation:
Plus strand

chr16:14,014,014-14,046,202
(GRCh37/hg19 by Ensembl)
Size:
32,189 bases
Orientation:
Plus strand

Genomic View for ERCC4 Gene

Genes around ERCC4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERCC4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ERCC4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERCC4 Gene

Proteins for ERCC4 Gene

  • Protein details for ERCC4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92889-XPF_HUMAN
    Recommended name:
    DNA repair endonuclease XPF
    Protein Accession:
    Q92889
    Secondary Accessions:
    • A5PKV6
    • A8K111
    • O00140
    • Q8TD83

    Protein attributes for ERCC4 Gene

    Size:
    916 amino acids
    Molecular mass:
    104486 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Heterodimer composed of ERCC1 and ERCC4/XPF. Interacts with SLX4/BTBD12; this interaction is direct and links the ERCC1-ERCC4/XPF complex to SLX4, which may coordinate the action of the structure-specific endonuclease during DNA repair.
    SequenceCaution:
    • Sequence=AAB07689.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ERCC4 Gene

    Alternative splice isoforms for ERCC4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ERCC4 Gene

Post-translational modifications for ERCC4 Gene

  • Ubiquitination at Lys753
  • Modification sites at PhosphoSitePlus

Other Protein References for ERCC4 Gene

No data available for DME Specific Peptides for ERCC4 Gene

Domains & Families for ERCC4 Gene

Gene Families for ERCC4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for ERCC4 Gene

InterPro:
Blocks:
  • ERCC4 domain

Suggested Antigen Peptide Sequences for ERCC4 Gene

GenScript: Design optimal peptide antigens:
  • ERCC4 protein (A0PJA9_HUMAN)
  • ERCC4 protein (A5PKV6_HUMAN)
  • Xeroderma pigmentosum group F-complementing protein (XPF_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92889

UniProtKB/Swiss-Prot:

XPF_HUMAN :
  • Belongs to the XPF family.
Family:
  • Belongs to the XPF family.
genes like me logo Genes that share domains with ERCC4: view

Function for ERCC4 Gene

Molecular function for ERCC4 Gene

UniProtKB/Swiss-Prot Function:
Catalytic component of a structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair. Involved in homologous recombination that assists in removing interstrand cross-link.
GENATLAS Biochemistry:
excision repair 103 kDa,single strand DNA endonuclease,cross-complementing rodent repair defect in CHO cells,complementation group 4 and group 11,yeast RAD1 homolog,same as ERCC11,homologous with eukaryotic DNA repair and recombination proteins MEI-9 from Drosophila,RAD16 S pombe,RAD1 S cerevisiae

Enzyme Numbers (IUBMB) for ERCC4 Gene

Phenotypes From GWAS Catalog for ERCC4 Gene

Gene Ontology (GO) - Molecular Function for ERCC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000014 single-stranded DNA endodeoxyribonuclease activity IBA 21873635
GO:0001094 TFIID-class transcription factor complex binding IEA --
GO:0003677 contributes_to DNA binding IDA 14734547
GO:0003684 damaged DNA binding IBA,IMP 11790111
GO:0003697 single-stranded DNA binding IBA,IDA 10413517
genes like me logo Genes that share ontologies with ERCC4: view
genes like me logo Genes that share phenotypes with ERCC4: view

Human Phenotype Ontology for ERCC4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERCC4

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ERCC4 Gene

Localization for ERCC4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERCC4 Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ERCC4 gene
Compartment Confidence
nucleus 5
plasma membrane 2
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
  • Nucleoplasm (3)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ERCC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000109 nucleotide-excision repair complex IDA 10644440
GO:0000110 nucleotide-excision repair factor 1 complex IBA,IDA 10413517
GO:0000781 chromosome, telomeric region IDA 14690602
GO:0005634 nucleus IEA,IDA 12571280
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with ERCC4: view

Pathways & Interactions for ERCC4 Gene

genes like me logo Genes that share pathways with ERCC4: view

Pathways by source for ERCC4 Gene

2 Qiagen pathways for ERCC4 Gene
  • DNA Repair Mechanisms
  • Nucleotide Excision Repair Pathway
1 Cell Signaling Technology pathway for ERCC4 Gene

SIGNOR curated interactions for ERCC4 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ERCC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000712 resolution of meiotic recombination intermediates IBA 21873635
GO:0000723 telomere maintenance IMP 14690602
GO:0000724 double-strand break repair via homologous recombination IBA,IMP 14728600
GO:0006281 DNA repair IGI,IMP 19596235
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
genes like me logo Genes that share ontologies with ERCC4: view

Drugs & Compounds for ERCC4 Gene

(7) Drugs for ERCC4 Gene - From: PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
Platinum compounds Pharma 0

(3) Additional Compounds for ERCC4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ERCC4: view

Transcripts for ERCC4 Gene

mRNA/cDNA for ERCC4 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERCC4

Alternative Splicing Database (ASD) splice patterns (SP) for ERCC4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13a · 13b
SP1: - -
SP2: -
SP3:
SP4: - -
SP5:
SP6:

Relevant External Links for ERCC4 Gene

GeneLoc Exon Structure for
ERCC4

Expression for ERCC4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ERCC4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ERCC4 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (24.7) and Heart (16.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ERCC4 Gene



Protein tissue co-expression partners for ERCC4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ERCC4

SOURCE GeneReport for Unigene cluster for ERCC4 Gene:

Hs.567265

Evidence on tissue expression from TISSUES for ERCC4 Gene

  • Nervous system(4.4)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ERCC4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lacrimal apparatus
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • breast
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • thymus
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • liver
  • spleen
  • stomach
Pelvis:
  • anus
  • ovary
  • pelvis
  • penis
  • prostate
  • rectum
  • testicle
  • ureter
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with ERCC4: view

Primer products for research

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ERCC4 Gene

Orthologs for ERCC4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ERCC4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ERCC4 29 30
  • 99.56 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ERCC4 29 30
  • 86.1 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ERCC4 30
  • 86 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia ERCC4 29 30
  • 85.44 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ERCC4 30
  • 84 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Ercc4 29 16 30
  • 80.49 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ercc4l1 29
  • 79.77 (n)
Chicken
(Gallus gallus)
Aves ERCC4 29 30
  • 74.52 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ERCC4 30
  • 74 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ercc4 29
  • 70.42 (n)
Str.15254 29
Zebrafish
(Danio rerio)
Actinopterygii ercc4 29 30
  • 63.24 (n)
OneToOne
wufi03a05 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002805 29
  • 51.96 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta mei-9 29 30 31
  • 50.94 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea C47D12.8 30
  • 29 (a)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AFR456C 29
  • 49.19 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAD1 29 30 32
  • 46.55 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D12210g 29
  • 46.16 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons UVH1 29
  • 49.73 (n)
Rice
(Oryza sativa)
Liliopsida Os03g0100400 29
  • 48.83 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU07440 29
  • 50.89 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 49 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rad16 29
  • 46.96 (n)
Species where no ortholog for ERCC4 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ERCC4 Gene

ENSEMBL:
Gene Tree for ERCC4 (if available)
TreeFam:
Gene Tree for ERCC4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ERCC4: view image
Alliance of Genome Resources:
Additional Orthologs for ERCC4

Paralogs for ERCC4 Gene

No data available for Paralogs for ERCC4 Gene

Variants for ERCC4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ERCC4 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
1002097 Uncertain Significance: Xeroderma pigmentosum, group F; Fanconi anemia, complementation group Q; Cockayne syndrome 13,920,295(+) C/T
NM_005236.3(ERCC4):c.130C>T (p.Leu44Phe)
MISSENSE
1003655 Uncertain Significance: Xeroderma pigmentosum, group F; Fanconi anemia, complementation group Q; Cockayne syndrome 13,935,671(+) T/C
NM_005236.3(ERCC4):c.1739T>C (p.Leu580Pro)
MISSENSE
1003761 Uncertain Significance: Xeroderma pigmentosum, group F; Fanconi anemia, complementation group Q; Cockayne syndrome 13,935,323(+) A/T
NM_005236.3(ERCC4):c.1391A>T (p.Lys464Ile)
MISSENSE
1005637 Uncertain Significance: Xeroderma pigmentosum, group F; Fanconi anemia, complementation group Q; Cockayne syndrome 13,937,824(+) C/T
NM_005236.3(ERCC4):c.1870C>T (p.Arg624Trp)
MISSENSE
1006484 Uncertain Significance: Xeroderma pigmentosum, group F; Fanconi anemia, complementation group Q; Cockayne syndrome 13,935,175(+) C/G
NM_005236.3(ERCC4):c.1243C>G (p.Arg415Gly)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ERCC4 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ERCC4 Gene

Variant ID Type Subtype PubMed ID
nsv984261 CNV duplication 23825009

Variation tolerance for ERCC4 Gene

Residual Variation Intolerance Score: 39.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.77; 66.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ERCC4 Gene

Human Gene Mutation Database (HGMD)
ERCC4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ERCC4
Leiden Open Variation Database (LOVD)
ERCC4

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ERCC4 Gene

Disorders for ERCC4 Gene

MalaCards: The human disease database

(23) MalaCards diseases for ERCC4 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search ERCC4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

XPF_HUMAN
  • Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]: An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. XP-F patients show a mild phenotype. {ECO:0000269 PubMed:10447254, ECO:0000269 PubMed:8797827, ECO:0000269 PubMed:9579555, ECO:0000269 PubMed:9580660}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • XFE progeroid syndrome (XFEPS) [MIM:610965]: A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. {ECO:0000269 PubMed:17183314}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Xeroderma pigmentosum type F/Cockayne syndrome (XPF/CS) [MIM:278760]: A variant form of Cockayne syndrome, a disorder characterized by growth retardation, microcephaly, impairment of nervous system development, pigmentary retinopathy, peculiar facies, and progeria together with abnormal skin photosensitivity. Cockayne syndrome dermatological features are milder than those in xeroderma pigmentosum and skin cancers are not found in affected individuals. XPF/CS patients, however, present with severe skin phenotypes, including severe photosensitivity, abnormal skin pigmentation, and skin cancer predisposition. {ECO:0000269 PubMed:23623389}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Fanconi anemia complementation group Q (FANCQ) [MIM:615272]: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. {ECO:0000269 PubMed:23623386, ECO:0000269 PubMed:24027083}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for ERCC4

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ERCC4: view

No data available for Genatlas for ERCC4 Gene

Publications for ERCC4 Gene

  1. Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease. (PMID: 9579555) Sijbers AM … Kleijer WJ (The Journal of investigative dermatology 1998) 2 3 4 22
  2. ERCC4 (XPF) encodes a human nucleotide excision repair protein with eukaryotic recombination homologs. (PMID: 8887684) Brookman KW … Thompson LH (Molecular and cellular biology 1996) 2 3 4 22
  3. Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia. (PMID: 23623386) Bogliolo M … Surrallés J (American journal of human genetics 2013) 3 4 72
  4. Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. (PMID: 23623389) Kashiyama K … Ogi T (American journal of human genetics 2013) 3 4 72
  5. Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients. (PMID: 20221251) Ahmad A … Niedernhofer LJ (PLoS genetics 2010) 3 22 72

Products for ERCC4 Gene

Sources for ERCC4 Gene