This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal synd... See more...

Aliases for ERCC6 Gene

Aliases for ERCC6 Gene

  • ERCC Excision Repair 6, Chromatin Remodeling Factor 2 3 5
  • Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 6 2 3
  • Excision Repair Cross-Complementation Group 6 2 3
  • DNA Excision Repair Protein ERCC-6 3 4
  • Cockayne Syndrome Protein CSB 3 4
  • Chimeric ERCC6-PGBD3 Protein 3 4
  • ATP-Dependent Helicase ERCC6 3 4
  • Chimeric CSB-PGBD3 Protein 3 4
  • CSB 3 4
  • Cockayne Syndrome Group B Protein 3
  • Cockayne Syndrome B Protein 2
  • ERCC6-PGBD3 Fusion Protein 3
  • EC 3.6.4.- 4
  • CSB-PGBD3 3
  • EC 3.6.1 52
  • ARMD5 3
  • COFS1 3
  • POF11 3
  • RAD26 3
  • UVSS1 3
  • COFS 3
  • CKN2 3

External Ids for ERCC6 Gene

Previous HGNC Symbols for ERCC6 Gene

  • CKN2

Previous GeneCards Identifiers for ERCC6 Gene

  • GC10M049571
  • GC10M050559
  • GC10M050011
  • GC10M050336
  • GC10M050663
  • GC10M044929

Summaries for ERCC6 Gene

Entrez Gene Summary for ERCC6 Gene

  • This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Alternative splicing occurs between a splice site from exon 5 of this gene to the 3' splice site upstream of the open reading frame (ORF) of the adjacent gene, piggyback-derived-3 (GeneID:267004), which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene. [provided by RefSeq, Mar 2016]

GeneCards Summary for ERCC6 Gene

ERCC6 (ERCC Excision Repair 6, Chromatin Remodeling Factor) is a Protein Coding gene. Diseases associated with ERCC6 include Cockayne Syndrome B and Cerebrooculofacioskeletal Syndrome 1. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Gene Expression. Gene Ontology (GO) annotations related to this gene include chromatin binding and protein C-terminus binding. An important paralog of this gene is CHD9.

UniProtKB/Swiss-Prot Summary for ERCC6 Gene

  • Essential factor involved in transcription-coupled nucleotide excision repair which allows RNA polymerase II-blocking lesions to be rapidly removed from the transcribed strand of active genes (PubMed:20541997, PubMed:26620705). Upon DNA-binding, it locally modifies DNA conformation by wrapping the DNA around itself, thereby modifying the interface between stalled RNA polymerase II and DNA (PubMed:15548521). It is required for transcription-coupled repair complex formation (PubMed:16916636). It recruits the CSA complex (DCX(ERCC8) complex), nucleotide excision repair proteins and EP300 to the sites of RNA polymerase II-blocking lesions (PubMed:16916636). Plays an important role in regulating the choice of the DNA double-strand breaks (DSBs) repair pathway and G2/M checkpoint activation; DNA-dependent ATPase activity is essential for this function (PubMed:25820262). Regulates the DNA repair pathway choice by inhibiting non-homologous end joining (NHEJ), thereby promoting the homologous recombination (HR)-mediated repair of DSBs during the S/G2 phases of the cell cycle (PubMed:25820262). Mediates the activation of the ATM- and CHEK2-dependent DNA damage responses thus preventing premature entry of cells into mitosis following the induction of DNA DSBs (PubMed:25820262). Acts as a chromatin remodeler at DSBs; DNA-dependent ATPase-dependent activity is essential for this function. Remodels chromatin by evicting histones from chromatin flanking DSBs, limiting RIF1 accumulation at DSBs thereby promoting BRCA1-mediated HR (PubMed:29203878). Required for stable recruitment of ELOA and CUL5 to DNA damage sites (PubMed:28292928). Involved in UV-induced translocation of ERCC8 to the nuclear matrix (PubMed:26620705). Essential for neuronal differentiation and neuritogenesis; regulates transcription and chromatin remodeling activities required during neurogenesis (PubMed:24874740).
  • Involved in repair of DNA damage following UV irradiation, acting either in the absence of ERCC6 or synergistically with ERCC6. Involved in the regulation of gene expression. In the absence of ERCC6, induces the expression of genes characteristic of interferon-like antiviral responses. This response is almost completely suppressed in the presence of ERCC6. In the presence of ERCC6, regulates the expression of genes involved in metabolism regulation, including IGFBP5 and IGFBP7. In vitro binds to PGBD3-related transposable elements, called MER85s; these non-autonomous 140 bp elements are characterized by the presence of PGBD3 terminal inverted repeats and the absence of internal transposase ORF.

Gene Wiki entry for ERCC6 Gene

Additional gene information for ERCC6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ERCC6 Gene

Genomics for ERCC6 Gene

GeneHancer (GH) Regulatory Elements for ERCC6 Gene

Promoters and enhancers for ERCC6 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
GH10J049537 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 507 +0.4 350 2.8 ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 MYC USF1 POLR2G PHF8 PGBD3 ERCC6 lnc-CHAT-3 piR-44310 AGAP6 TIMM23B-AGAP6 PARG ENSG00000235939 lnc-DRGX-4
GH10J049610 Promoter 1.1 EPDnew Ensembl 500.2 -70.7 -70663 0.8 ZIC2 ZBTB26 EZH2 SP2 ZBTB17 POLR2A ZFHX2 ZNF335 ZBTB48 SMARCA4 CHAT NONHSAG005873.2 SLC18A3 ERCC6
GH10J049583 Promoter 0.3 EPDnew 500.3 -43.8 -43809 0.1 ERCC6 PGBD3 piR-50437-050 HMGB1P50 lnc-CHAT-1
GH10J049567 Enhancer 1.1 FANTOM5 Ensembl ENCODE 11.1 -29.2 -29226 2.5 RELA EP300 BCL11A TCF12 ARNT CEBPB FOS CHD2 JUN SPI1 ERCC6 SLC18A3 CHAT PGBD3 lnc-CHAT-1 HMGB1P50 piR-50437-050
GH10J049549 Enhancer 0.9 Ensembl ENCODE 10 -12.4 -12363 5 ZNF740 EP300 ZNF316 FOS NR3C1 JUN FOSL1 MAFK JUND FOXA1 HMGB1P50 lnc-CHAT-1 ERCC6 PGBD3 ENSG00000235939 piR-50437-050
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ERCC6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ERCC6

Top Transcription factor binding sites by QIAGEN in the ERCC6 gene promoter:
  • GATA-1
  • HSF2
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c
  • POU6F1 (c2)
  • Sp1
  • SREBP-1a
  • SREBP-1c

Genomic Locations for ERCC6 Gene

Genomic Locations for ERCC6 Gene
chr10:49,454,470-49,539,538
(GRCh38/hg38)
Size:
85,069 bases
Orientation:
Minus strand
chr10:50,663,414-50,747,584
(GRCh37/hg19)
Size:
84,171 bases
Orientation:
Minus strand

Genomic View for ERCC6 Gene

Genes around ERCC6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERCC6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ERCC6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERCC6 Gene

Proteins for ERCC6 Gene

  • Protein details for ERCC6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0DP91-ERPG3_HUMAN
    Recommended name:
    Chimeric ERCC6-PGBD3 protein
    Protein Accession:
    P0DP91

    Protein attributes for ERCC6 Gene

    Size:
    1061 amino acids
    Molecular mass:
    119487 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • [Isoform CSB-PGBD3]: Produced by an alternative splicing event that joins the first 5 exons of ERCC6 gene in frame to the entire PGBD3 coding region, which is located within ERCC6 intron 5. The resulting chimeric protein consists of the N-terminal 465 residues of ERCC6 tethered to the entire PGBD3 sequence.

    Alternative splice isoforms for ERCC6 Gene

    UniProtKB/Swiss-Prot:
  • Protein details for ERCC6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q03468-ERCC6_HUMAN
    Recommended name:
    DNA excision repair protein ERCC-6
    Protein Accession:
    Q03468
    Secondary Accessions:
    • D3DX94
    • E7EV46
    • Q5W0L9

    Protein attributes for ERCC6 Gene

    Size:
    1493 amino acids
    Molecular mass:
    168416 Da
    Quaternary structure:
    • Homodimer (PubMed:16128801, PubMed:15548521). Binds DNA (PubMed:15548521). Interacts with ERCC8 (PubMed:16751180). Interacts with RNA polymerase II; interaction is enhanced by UV irradiation (PubMed:26620705). Component of the B-WICH complex, at least composed of SMARCA5/SNF2H, BAZ1B/WSTF, SF3B1, DEK, MYO1C, ERCC6, MYBBP1A and DDX21 (PubMed:16603771). Interacts with KIAA1530/UVSSA (PubMed:22466612). Interacts with ELOA and CUL5; the interaction is induced by DNA damaging agents or by inhibitors of RNA polymerase II elongation (PubMed:28292928). Interacts (via WHD region) with RIF1 (PubMed:29203878). Interacts with SMARCC2/BAF170, SMARCB1/BAF47 and the neuron-specific chromatin remodeling complex (nBAF complex)(PubMed:24874740). Interacts with CAND1, CSTF1, DDX3X, DDX5, DDX17, DDX23, DHX36, HDAC1, HNRNPU, MTA2, PRPF3, PSMD3, RBBP4, SFPQ, SMARCA1, SMARCA2, TOP1, USP7, XRCC5, COPS3, COPS4, COPS6, DDX1, DDX41, GATAD2A, GATAD2B, PRPF4, PSMC5, SF3B2, CTR9, NONO, PSMD12 and TOP2A (PubMed:26030138).

    Three dimensional structures from OCA and Proteopedia for ERCC6 Gene

    Alternative splice isoforms for ERCC6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ERCC6 Gene

Selected DME Specific Peptides for ERCC6 Gene

Q03468:
  • GTIEEKI
  • DEMGLGKT
  • MGLGKTIQ
  • QVTVYRL

Post-translational modifications for ERCC6 Gene

  • Phosphorylated in a cell cycle-dependent manner at Ser-158 by cyclin A-CDK2 and at Ser-10 by ATM in response to DNA damage (PubMed:29203878). Phosphorylation at these two sites promotes the intramolecular interaction of the N-terminal domain with the helicase ATP-binding domain, thereby probably releasing the inhibitory effect of the N-terminal domain on its ATPase activity (PubMed:29203878). Phosphorylation is essential for its chromatin remodeling activity (PubMed:29203878).
  • Ubiquitinated at the C-terminus. Ubiquitination by the CSA complex leads to ERCC6 proteasomal degradation in a UV-dependent manner. Stabilized following interaction with KIAA1530/UVSSA, which promotes recruitment of deubiquitinating enzyme USP7, leading to deubiquitination of ERCC6 thereby preventing UV-induced degradation of ERCC6 by the proteasome.
  • Sumoylation at Lys-205 in an UV-radiation-dependent manner is essential for its transcription-coupled nucleotide excision repair activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt
  • Ubiquitination at Lys1457

Domains & Families for ERCC6 Gene

Gene Families for ERCC6 Gene

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

Protein Domains for ERCC6 Gene

Blocks:
  • SNF2 related domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ERCC6 Gene

GenScript: Design optimal peptide antigens:
  • Excision repair cross-complementing rodent repair deficiency, complementation group 6 (A0JP10_HUMAN)
  • Cockayne syndrome protein CSB (ERCC6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q03468

UniProtKB/Swiss-Prot:

ERCC6_HUMAN :
  • A C-terminal ubiquitin-binding domain (UBD) is essential for transcription-coupled nucleotide excision repair activity, interaction with RNA polymerase II, association with chromatin after UV irradiation and for mediating the UV-induced translocation of ERRC8 to the nuclear matrix.
  • Belongs to the SNF2/RAD54 helicase family.
Domain:
  • A C-terminal ubiquitin-binding domain (UBD) is essential for transcription-coupled nucleotide excision repair activity, interaction with RNA polymerase II, association with chromatin after UV irradiation and for mediating the UV-induced translocation of ERRC8 to the nuclear matrix.
  • The N-terminal domain exerts an inhibitory effect on the helicase ATP-binding domain in such a manner that its ATPase activity is restricted (PubMed:29203878). Phosphorylation at Ser-10 and Ser-158 promotes the intramolecular interaction of the N-terminal domain with the helicase ATP-binding domain, thereby probably releasing the inhibitory effect of the N-terminal domain on its ATPase activity (PubMed:29203878).
Family:
  • Belongs to the SNF2/RAD54 helicase family.
genes like me logo Genes that share domains with ERCC6: view

Function for ERCC6 Gene

Molecular function for ERCC6 Gene

UniProtKB/Swiss-Prot Function:
Essential factor involved in transcription-coupled nucleotide excision repair which allows RNA polymerase II-blocking lesions to be rapidly removed from the transcribed strand of active genes (PubMed:20541997, PubMed:26620705). Upon DNA-binding, it locally modifies DNA conformation by wrapping the DNA around itself, thereby modifying the interface between stalled RNA polymerase II and DNA (PubMed:15548521). It is required for transcription-coupled repair complex formation (PubMed:16916636). It recruits the CSA complex (DCX(ERCC8) complex), nucleotide excision repair proteins and EP300 to the sites of RNA polymerase II-blocking lesions (PubMed:16916636). Plays an important role in regulating the choice of the DNA double-strand breaks (DSBs) repair pathway and G2/M checkpoint activation; DNA-dependent ATPase activity is essential for this function (PubMed:25820262). Regulates the DNA repair pathway choice by inhibiting non-homologous end joining (NHEJ), thereby promoting the homologous recombination (HR)-mediated repair of DSBs during the S/G2 phases of the cell cycle (PubMed:25820262). Mediates the activation of the ATM- and CHEK2-dependent DNA damage responses thus preventing premature entry of cells into mitosis following the induction of DNA DSBs (PubMed:25820262). Acts as a chromatin remodeler at DSBs; DNA-dependent ATPase-dependent activity is essential for this function. Remodels chromatin by evicting histones from chromatin flanking DSBs, limiting RIF1 accumulation at DSBs thereby promoting BRCA1-mediated HR (PubMed:29203878). Required for stable recruitment of ELOA and CUL5 to DNA damage sites (PubMed:28292928). Involved in UV-induced translocation of ERCC8 to the nuclear matrix (PubMed:26620705). Essential for neuronal differentiation and neuritogenesis; regulates transcription and chromatin remodeling activities required during neurogenesis (PubMed:24874740).
UniProtKB/Swiss-Prot Function:
Involved in repair of DNA damage following UV irradiation, acting either in the absence of ERCC6 or synergistically with ERCC6. Involved in the regulation of gene expression. In the absence of ERCC6, induces the expression of genes characteristic of interferon-like antiviral responses. This response is almost completely suppressed in the presence of ERCC6. In the presence of ERCC6, regulates the expression of genes involved in metabolism regulation, including IGFBP5 and IGFBP7. In vitro binds to PGBD3-related transposable elements, called MER85s; these non-autonomous 140 bp elements are characterized by the presence of PGBD3 terminal inverted repeats and the absence of internal transposase ORF.
GENATLAS Biochemistry:
excision repair cross-complementing rodent repair defect in CHO cells,complementation group 6,preferential repair of transcribed strand,yeast RAD26 homolog (see CKN2)

Enzyme Numbers (IUBMB) for ERCC6 Gene

Phenotypes From GWAS Catalog for ERCC6 Gene

Gene Ontology (GO) - Molecular Function for ERCC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003677 DNA binding IDA,IEA 8999876
GO:0003678 NOT DNA helicase activity IDA 8999876
GO:0003682 chromatin binding IMP 25820262
GO:0004386 helicase activity IEA --
genes like me logo Genes that share ontologies with ERCC6: view
genes like me logo Genes that share phenotypes with ERCC6: view

Human Phenotype Ontology for ERCC6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ERCC6 Gene

MGI Knock Outs for ERCC6:

miRNA for ERCC6 Gene

miRTarBase miRNAs that target ERCC6

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for ERCC6 Gene

Localization for ERCC6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERCC6 Gene

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 ERCC6 gene
Compartment Confidence
nucleus 5
mitochondrion 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ERCC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 12560492
GO:0005654 nucleoplasm IDA,TAS --
GO:0005730 nucleolus IDA 16107709
GO:0008023 transcription elongation factor complex IDA 9326587
GO:0016604 nuclear body IDA --
genes like me logo Genes that share ontologies with ERCC6: view

Pathways & Interactions for ERCC6 Gene

genes like me logo Genes that share pathways with ERCC6: view

Pathways by source for ERCC6 Gene

1 KEGG pathway for ERCC6 Gene
2 Qiagen pathways for ERCC6 Gene
  • DNA Repair Mechanisms
  • Nucleotide Excision Repair Pathway

SIGNOR curated interactions for ERCC6 Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for ERCC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000012 single strand break repair IDA 29545921
GO:0000077 DNA damage checkpoint IMP 25820262
GO:0000303 response to superoxide IEA --
GO:0002230 positive regulation of defense response to virus by host IMP 22483866
GO:0006281 DNA repair IEA --
genes like me logo Genes that share ontologies with ERCC6: view

Drugs & Compounds for ERCC6 Gene

(1) Drugs for ERCC6 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(6) Additional Compounds for ERCC6 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ERCC6: view

Transcripts for ERCC6 Gene

mRNA/cDNA for ERCC6 Gene

4 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ERCC6 Gene

No ASD Table

Relevant External Links for ERCC6 Gene

GeneLoc Exon Structure for
ERCC6

Expression for ERCC6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ERCC6 Gene

Protein differential expression in normal tissues from HIPED for ERCC6 Gene

This gene is overexpressed in Plasma (26.0), Heart (8.6), Retina (7.9), Placenta (7.4), and Blymphocyte (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ERCC6 Gene



Protein tissue co-expression partners for ERCC6 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ERCC6

SOURCE GeneReport for Unigene cluster for ERCC6 Gene:

Hs.49063

mRNA Expression by UniProt/SwissProt for ERCC6 Gene:

P0DP91-ERPG3_HUMAN
Tissue specificity: Expressed in heart and oocytes, but not in granulosa cells (at protein level).

Phenotype-based relationships between genes and organs from Gene ORGANizer for ERCC6 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
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lacrimal apparatus
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
  • tooth
Thorax:
  • breast
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • thymus
Abdomen:
  • kidney
  • liver
  • spleen
Pelvis:
  • ovary
  • pelvis
  • penis
  • prostate
  • 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
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with ERCC6: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Evidence on tissue expression from TISSUES for ERCC6 Gene

Orthologs for ERCC6 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ERCC6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ERCC6 31 30
  • 99.73 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ERCC6 30
  • 86.59 (n)
ERCC6L 31
  • 84 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ERCC6 31 30
  • 85.25 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ercc6 17 31 30
  • 81.9 (n)
rat
(Rattus norvegicus)
Mammalia Ercc6 30
  • 80.81 (n)
oppossum
(Monodelphis domestica)
Mammalia ERCC6 31
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ERCC6 31
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves ERCC6 31 30
  • 69.96 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ERCC6 31
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.12707 30
zebrafish
(Danio rerio)
Actinopterygii ercc6 31 30
  • 65.27 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea csb-1 32
  • 35 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAD26 33 31
  • 37 (a)
rice
(Oryza sativa)
Liliopsida Os.24886 30
Species where no ortholog for ERCC6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ERCC6 Gene

ENSEMBL:
Gene Tree for ERCC6 (if available)
TreeFam:
Gene Tree for ERCC6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ERCC6: view image

Paralogs for ERCC6 Gene

(7) SIMAP similar genes for ERCC6 Gene using alignment to 4 proteins:

  • ERCC6_HUMAN
  • A0JP10_HUMAN
  • D6R9X7_HUMAN
  • F5H493_HUMAN
genes like me logo Genes that share paralogs with ERCC6: view

Variants for ERCC6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ERCC6 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
1710 Pathogenic: Cockayne syndrome B 49,524,395(-) T/TA FRAMESHIFT_VARIANT
1713 Pathogenic: Cerebrooculofacioskeletal syndrome 1 49,478,386(-) T/C MISSENSE_VARIANT
638299 Uncertain Significance: ERCC6-Related Disorders 49,472,914(-) T/G MISSENSE_VARIANT
643678 Pathogenic: not provided 49,471,091(-) CTA/C FRAMESHIFT_VARIANT
655399 Pathogenic: not provided 49,532,915(-) CAGTCTTGCTCCTG/C FRAMESHIFT_VARIANT

Additional dbSNP identifiers (rs#s) for ERCC6 Gene

Structural Variations from Database of Genomic Variants (DGV) for ERCC6 Gene

Variant ID Type Subtype PubMed ID
esv2339896 CNV deletion 18987734
esv3578864 CNV loss 25503493
esv5944 CNV gain 19470904
nsv1042677 CNV loss 25217958
nsv1051636 CNV loss 25217958
nsv1149662 CNV duplication 26484159
nsv6632 CNV insertion 18451855
nsv831867 CNV gain 17160897
nsv947979 CNV duplication 23825009

Variation tolerance for ERCC6 Gene

Residual Variation Intolerance Score: 99.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.49; 92.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ERCC6 Gene

Human Gene Mutation Database (HGMD)
ERCC6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ERCC6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ERCC6 Gene

Disorders for ERCC6 Gene

MalaCards: The human disease database

(163) MalaCards diseases for ERCC6 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ERCC6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ERCC6_HUMAN
  • Cockayne syndrome B (CSB) [MIM:133540]: A rare disorder characterized by cutaneous sensitivity to sunlight, abnormal and slow growth, cachectic dwarfism, progeroid appearance, progressive pigmentary retinopathy and sensorineural deafness. There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. Two clinical forms are recognized: in the classical form or Cockayne syndrome type 1, the symptoms are progressive and typically become apparent within the first few years or life; the less common Cockayne syndrome type 2 is characterized by more severe symptoms that manifest prenatally. Cockayne syndrome shows some overlap with certain forms of xeroderma pigmentosum. Unlike xeroderma pigmentosum, patients with Cockayne syndrome do not manifest increased freckling and other pigmentation abnormalities in the skin and have no significant increase in skin cancer. {ECO:0000269 PubMed:10447254, ECO:0000269 PubMed:19894250, ECO:0000269 PubMed:25820262, ECO:0000269 PubMed:29203878, ECO:0000269 PubMed:9443879}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cerebro-oculo-facio-skeletal syndrome 1 (COFS1) [MIM:214150]: A disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome. {ECO:0000269 PubMed:19894250}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • De Sanctis-Cacchione syndrome (DSC) [MIM:278800]: An autosomal recessive syndrome consisting of xeroderma pigmentosum associated with severe neurological and developmental involvement. In addition to the clinical signs of xeroderma pigmentosum, patients present with mental retardation, dwarfism, gonadal hypoplasia, microcephaly and various neurologic complications of early onset. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Macular degeneration, age-related, 5 (ARMD5) [MIM:613761]: A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. {ECO:0000269 PubMed:16754848}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • UV-sensitive syndrome 1 (UVSS1) [MIM:600630]: An autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling in the absence of neurological abnormalities or skin tumors. {ECO:0000269 PubMed:15486090}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Premature ovarian failure 11 (POF11) [MIM:616946]: An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. {ECO:0000269 PubMed:26218421}. Note=The protein represented in this entry is involved in disease pathogenesis. Disease-causing variants affect isoform CSB-PGBD3, which is a chimeric protein between ERCC6 N-terminus and the entire PGBD3 sequence. {ECO:0000269 PubMed:26218421}.

Additional Disease Information for ERCC6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ERCC6: view

No data available for Genatlas for ERCC6 Gene

Publications for ERCC6 Gene

  1. Cockayne syndrome group B protein stimulates repair of formamidopyrimidines by NEIL1 DNA glycosylase. (PMID: 19179336) Muftuoglu M … Bohr VA (The Journal of biological chemistry 2009) 2 3 23 54
  2. ERCC6/CSB gene polymorphisms and lung cancer risk. (PMID: 18789574) Ma H … Shen H (Cancer letters 2009) 3 23 41 54
  3. NAT2 and NER genetic variants and sporadic prostate cancer susceptibility in African Americans. (PMID: 18026184) Hooker S … Kittles RA (Prostate cancer and prostatic diseases 2008) 3 23 41 54
  4. An abundant evolutionarily conserved CSB-PiggyBac fusion protein expressed in Cockayne syndrome. (PMID: 18369450) Newman JC … Weiner AM (PLoS genetics 2008) 3 4 23 54
  5. A variant of the Cockayne syndrome B gene ERCC6 confers risk of lung cancer. (PMID: 17854076) Lin Z … Ning B (Human mutation 2008) 3 23 41 54

Products for ERCC6 Gene

Sources for ERCC6 Gene