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Aliases for ERCC2 Gene

Aliases for ERCC2 Gene

  • Excision Repair Cross-Complementation Group 2 2 3
  • XPD 3 4 6
  • Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 2 2 3
  • TFIIH Basal Transcription Factor Complex Helicase XPB Subunit 2 3
  • TFIIH Basal Transcription Factor Complex 80 KDa Subunit 3 4
  • Xeroderma Pigmentosum Group D-Complementing Protein 3 4
  • Xeroderma Pigmentosum Complementary Group D 2 3
  • Basic Transcription Factor 2 80 KDa Subunit 3 4
  • DNA Repair Protein Complementing XP-D Cells 3 4
  • DNA Excision Repair Protein ERCC-2 3 4
  • TFIIH 80 KDa Subunit 3 4
  • TFIIH P80 3 4
  • BTF2 P80 3 4
  • COFS2 3 6
  • CXPD 3 4
  • EM9 3 6
  • TFIIH Basal Transcription Factor Complex Helicase XPD Subunit 3
  • Excision Repair Cross-Complementing Rodent Repair Deficiency 2
  • TFIIH Basal Transcription Factor Complex Helicase Subunit 3
  • Complementation Group 2 Protein 2
  • EC 3.6.4.12 4
  • EC 3.6.1 63
  • TFIIH 3
  • XPDC 4
  • TTD 3

External Ids for ERCC2 Gene

Previous HGNC Symbols for ERCC2 Gene

  • XPD

Previous GeneCards Identifiers for ERCC2 Gene

  • GC19M046497
  • GC19M046245
  • GC19M050529
  • GC19M050546
  • GC19M045854
  • GC19M042287

Summaries for ERCC2 Gene

Entrez Gene Summary for ERCC2 Gene

  • The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

GeneCards Summary for ERCC2 Gene

ERCC2 (Excision Repair Cross-Complementation Group 2) is a Protein Coding gene. Diseases associated with ERCC2 include cerebrooculofacioskeletal syndrome 2 and xeroderma pigmentosum, group d. Among its related pathways are Disease and Cell Cycle / Checkpoint Control. GO annotations related to this gene include protein kinase activity and protein N-terminus binding.

UniProtKB/Swiss-Prot for ERCC2 Gene

  • ATP-dependent 5-3 DNA helicase, component of the core-TFIIH basal transcription factor. Involved in nucleotide excision repair (NER) of DNA by opening DNA around the damage, and in RNA transcription by RNA polymerase II by anchoring the CDK-activating kinase (CAK) complex, composed of CDK7, cyclin H and MAT1, to the core-TFIIH complex. Involved in the regulation of vitamin-D receptor activity. As part of the mitotic spindle-associated MMXD complex it plays a role in chromosome segregation. Might have a role in aging process and could play a causative role in the generation of skin cancers.

Gene Wiki entry for ERCC2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERCC2 Gene

Genomics for ERCC2 Gene

Regulatory Elements for ERCC2 Gene

Genomic Location for ERCC2 Gene

Start:
45,349,837 bp from pter
End:
45,370,918 bp from pter
Size:
21,082 bases
Orientation:
Minus strand

Genomic View for ERCC2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ERCC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERCC2 Gene

Proteins for ERCC2 Gene

  • Protein details for ERCC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P18074-ERCC2_HUMAN
    Recommended name:
    TFIIH basal transcription factor complex helicase XPD subunit
    Protein Accession:
    P18074
    Secondary Accessions:
    • Q2TB78
    • Q2YDY2
    • Q7KZU6
    • Q8N721

    Protein attributes for ERCC2 Gene

    Size:
    760 amino acids
    Molecular mass:
    86909 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Cofactor:
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883; Note=Binds 1 [4Fe-4S] cluster.;
    Quaternary structure:
    • One of the six subunits forming the core-TFIIH basal transcription factor which associates with the CAK complex composed of CDK7, CCNH/cyclin H and MNAT1 to form the TFIIH basal transcription factor. The interaction with GTF2H2 results in the stimulation of the 5-->3 helicase activity. Component of the MMXD complex, which includes CIAO1, ERCC2, FAM96B, MMS19 and SLC25A5. Interacts with FAM196B; the interaction is direct. Interacts with ATF7IP. Interacts with Epstein-Barr virus EBNA2.
    SequenceCaution:
    • Sequence=AAM45142.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for ERCC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ERCC2 Gene

Proteomics data for ERCC2 Gene at MOPED

Post-translational modifications for ERCC2 Gene

Other Protein References for ERCC2 Gene

Domains for ERCC2 Gene

Gene Families for ERCC2 Gene

HGNC:
  • TFIIH :General transcription factor IIH complex subunits

Graphical View of Domain Structure for InterPro Entry

P18074

UniProtKB/Swiss-Prot:

ERCC2_HUMAN :
  • P18074
Domain:
  • Contains 1 helicase ATP-binding domain.
Family:
  • Belongs to the helicase family. RAD3/XPD subfamily.
genes like me logo Genes that share domains with ERCC2: view

Function for ERCC2 Gene

Molecular function for ERCC2 Gene

GENATLAS Biochemistry: excision repair cross-complementing rodent repair defect in CHO cells (includes overlapping antisense sequence),complementation group 2,yeast RAD3 homolog (see XPD) mutations modify GTFIIH stoichiometry in XPD patients
UniProtKB/Swiss-Prot CatalyticActivity: ATP + H(2)O = ADP + phosphate
UniProtKB/Swiss-Prot Function: ATP-dependent 5-3 DNA helicase, component of the core-TFIIH basal transcription factor. Involved in nucleotide excision repair (NER) of DNA by opening DNA around the damage, and in RNA transcription by RNA polymerase II by anchoring the CDK-activating kinase (CAK) complex, composed of CDK7, cyclin H and MAT1, to the core-TFIIH complex. Involved in the regulation of vitamin-D receptor activity. As part of the mitotic spindle-associated MMXD complex it plays a role in chromosome segregation. Might have a role in aging process and could play a causative role in the generation of skin cancers.

Enzyme Numbers (IUBMB) for ERCC2 Gene

Gene Ontology (GO) - Molecular Function for ERCC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding --
GO:0003677 DNA binding IEA --
GO:0004003 ATP-dependent DNA helicase activity IEA --
GO:0004672 contributes_to protein kinase activity IDA 9852112
GO:0005515 protein binding IPI 11445587
genes like me logo Genes that share ontologies with ERCC2: view
genes like me logo Genes that share phenotypes with ERCC2: view

Animal Models for ERCC2 Gene

MGI Knock Outs for ERCC2:

miRNA for ERCC2 Gene

miRTarBase miRNAs that target ERCC2

No data available for Transcription Factor Targeting and HOMER Transcription for ERCC2 Gene

Localization for ERCC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERCC2 Gene

Nucleus. Cytoplasm, cytoskeleton, spindle.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ERCC2 Gene COMPARTMENTS Subcellular localization image for ERCC2 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 3
peroxisome 1

Gene Ontology (GO) - Cellular Components for ERCC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000439 core TFIIH complex IEA --
GO:0005634 nucleus IDA 20797633
GO:0005654 nucleoplasm TAS --
GO:0005675 holo TFIIH complex TAS 7663514
GO:0005737 cytoplasm IDA 20797633
genes like me logo Genes that share ontologies with ERCC2: view

Pathways for ERCC2 Gene

SuperPathways for ERCC2 Gene

Superpath Contained pathways
1 Formation of RNA Pol II elongation complex
2 DNA Repair
3 Global Genomic NER (GG-NER)
4 RNA Polymerase I Promoter Opening
5 HIV Life Cycle
genes like me logo Genes that share pathways with ERCC2: view

Pathways by source for ERCC2 Gene

Gene Ontology (GO) - Biological Process for ERCC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000718 nucleotide-excision repair, DNA damage removal TAS --
GO:0001666 response to hypoxia IEA --
GO:0001701 in utero embryonic development IEA --
GO:0006139 nucleobase-containing compound metabolic process --
GO:0006200 obsolete ATP catabolic process --
genes like me logo Genes that share ontologies with ERCC2: view

Compounds for ERCC2 Gene

(1) HMDB Compounds for ERCC2 Gene

Compound Synonyms Cas Number PubMed IDs
Magnesium
  • Magnesium
7439-95-4

(23) Novoseek inferred chemical compound relationships for ERCC2 Gene

Compound -log(P) Hits PubMed IDs
sarcnu 67.4 4
chloroethylnitrosourea 61.5 1
cisplatin 52.8 33
oxaliplatin 45.8 8
ecteinascidin 743 42.8 2

(7) PharmGKB related drug/compound annotations for ERCC2 Gene

genes like me logo Genes that share compounds with ERCC2: view

Transcripts for ERCC2 Gene

Unigene Clusters for ERCC2 Gene

Excision repair cross-complementing rodent repair deficiency, complementation group 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ERCC2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
SP1: - - -
SP2: - -
SP3: - -
SP4:
SP5: - - - -
SP6:
SP7: - - -
SP8: -

ExUns: 22 ^ 23
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for ERCC2 Gene

GeneLoc Exon Structure for
ERCC2
ECgene alternative splicing isoforms for
ERCC2

Expression for ERCC2 Gene

mRNA expression in normal human tissues for ERCC2 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ERCC2 Gene

SOURCE GeneReport for Unigene cluster for ERCC2 Gene Hs.487294

genes like me logo Genes that share expressions with ERCC2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ERCC2 Gene

Orthologs for ERCC2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ERCC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ERCC2 35
  • 99.3 (n)
  • 99.74 (a)
ERCC2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ERCC2 35
  • 91.49 (n)
  • 97.89 (a)
ERCC2 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ERCC2 35
  • 91.36 (n)
  • 98.02 (a)
ERCC2 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ercc2 35
  • 89.21 (n)
  • 97.5 (a)
Ercc2 16
Ercc2 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ERCC2 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 93 (a)
OneToMany
-- 36
  • 89 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ercc2 35
  • 88.51 (n)
  • 97.76 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ercc2 35
  • 71.01 (n)
  • 80.39 (a)
zebrafish
(Danio rerio)
Actinopterygii ercc2 35
  • 72.48 (n)
  • 81.58 (a)
ercc2 36
  • 83 (a)
OneToOne
zgc56365 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002988 35
  • 67.44 (n)
  • 69.67 (a)
fruit fly
(Drosophila melanogaster)
Insecta Xpd 35
  • 66.3 (n)
  • 69.26 (a)
Xpd 36
  • 68 (a)
OneToOne
Xpd 37
  • 68 (a)
worm
(Caenorhabditis elegans)
Secernentea Y50D7A.11 36
  • 51 (a)
OneToOne
Y50D7A.2 35
  • 58.06 (n)
  • 61.53 (a)
Y50D7A.2 37
  • 58 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR114C 35
  • 56.42 (n)
  • 53.77 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAD3 35
  • 52.03 (n)
  • 53.5 (a)
RAD3 36
  • 51 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C17776g 35
  • 52.22 (n)
  • 53.09 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons UVH6 35
  • 56.3 (n)
  • 55.62 (a)
rice
(Oryza sativa)
Liliopsida Os05g0144800 35
  • 58.42 (n)
  • 56.46 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU01625 35
  • 59.53 (n)
  • 55.22 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rad15 35
  • 54.4 (n)
  • 56.5 (a)
Species with no ortholog for ERCC2:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • lizard (Anolis carolinensis)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ERCC2 Gene

ENSEMBL:
Gene Tree for ERCC2 (if available)
TreeFam:
Gene Tree for ERCC2 (if available)

Paralogs for ERCC2 Gene

Selected SIMAP similar genes for ERCC2 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with ERCC2: view

No data available for Paralogs for ERCC2 Gene

Variants for ERCC2 Gene

Sequence variations from dbSNP and Humsavar for ERCC2 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs50871 -- 45,359,257(-) TCAtg(G/T)tcttt intron-variant
rs50872 -- 45,359,191(-) ttagg(C/T)tctca intron-variant
rs106433 -- 45,356,626(-) cacca(C/T)gttgg intron-variant
rs171140 untested 45,361,744(+) CCCAG(A/C)CAATG intron-variant
rs238403 -- 45,361,959(+) TCAGA(C/T)GGAGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ERCC2 Gene

Variant ID Type Subtype PubMed ID
nsv833844 CNV Loss 17160897
nsv912146 CNV Loss 21882294
nsv833845 CNV Loss 17160897
nsv470146 CNV Loss 18288195
nsv458711 CNV Gain 19166990
dgv29n64 CNV Gain 17921354
nsv442466 CNV CNV 18776908
nsv515681 CNV Loss 19592680
nsv428365 CNV Gain+Loss 18775914

Relevant External Links for ERCC2 Gene

HapMap Linkage Disequilibrium report
ERCC2
Human Gene Mutation Database (HGMD)
ERCC2
Locus Specific Mutation Databases (LSDB)
ERCC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ERCC2 Gene

Disorders for ERCC2 Gene

(3) OMIM Diseases for ERCC2 Gene (126340)

UniProtKB/Swiss-Prot

ERCC2_HUMAN
  • Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]: 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. Some XP-D patients present features of Cockayne syndrome, including cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex. {ECO:0000269 PubMed:11709541, ECO:0000269 PubMed:7585650, ECO:0000269 PubMed:7825573, ECO:0000269 PubMed:7849702, ECO:0000269 PubMed:9101292}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Trichothiodystrophy photosensitive (TTDP) [MIM:601675]: TTDP is an autosomal recessive disease characterized by sulfur-deficient brittle hair and nails, ichthyosis, mental retardation, impaired sexual development, abnormal facies and cutaneous photosensitivity correlated with a nucleotide excision repair (NER) defect. Neonates with trichothiodystrophy and ichthyosis are usually born with a collodion membrane. The severity of the ichthyosis after the membrane is shed is variable, ranging from a mild to severe lamellar ichthyotic phenotype. There are no reports of skin cancer associated with TTDP. {ECO:0000269 PubMed:11242112, ECO:0000269 PubMed:7920640, ECO:0000269 PubMed:8571952, ECO:0000269 PubMed:9195225, ECO:0000269 PubMed:9238033, ECO:0000269 PubMed:9758621}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cerebro-oculo-facio-skeletal syndrome 2 (COFS2) [MIM:610756]: 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:11443545}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(45) Novoseek inferred disease relationships for ERCC2 Gene

Disease -log(P) Hits PubMed IDs
trichothiodystrophy 96.2 34
xeroderma pigmentosum, complementation group d 95.3 16
xeroderma pigmentosum 94.9 84
cockayne syndrome 91.2 16
skin cancer 68.6 10

Relevant External Links for ERCC2

GeneTests
ERCC2
GeneReviews
ERCC2
Genetic Association Database (GAD)
ERCC2
Human Genome Epidemiology (HuGE) Navigator
ERCC2
genes like me logo Genes that share disorders with ERCC2: view

Publications for ERCC2 Gene

  1. ERCC2: cDNA cloning and molecular characterization of a human nucleotide excision repair gene with high homology to yeast RAD3. (PMID: 2184031) Weber C.A. … Thompson L.H. (EMBO J. 1990) 2 3 4 23
  2. Human Xeroderma pigmentosum group D gene encodes a DNA helicase. (PMID: 8413672) Sung P. … Prakash S. (Nature 1993) 2 3 4 23
  3. Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. (PMID: 9238033) Taylor E.M. … Lehmann A.R. (Proc. Natl. Acad. Sci. U.S.A. 1997) 3 4 23 48
  4. Associations between ercc2 polymorphisms and gliomas. (PMID: 11319176) Caggana M. … Wrensch M.R. (Cancer Epidemiol. Biomarkers Prev. 2001) 3 4 23 48
  5. Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene. (PMID: 11709541) Broughton B.C. … Lehmann A.R. (Hum. Mol. Genet. 2001) 3 4 23

Products for ERCC2 Gene

  • Addgene plasmids for ERCC2

Sources for ERCC2 Gene

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