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Aliases for ERCC2 Gene

Aliases for ERCC2 Gene

  • ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit 2 3 5
  • 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
  • Excision Repair Cross-Complementation Group 2 2 3
  • 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
  • CXPD 3 4
  • XPD 3 4
  • Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 2 Protein 2
  • TFIIH Basal Transcription Factor Complex Helicase XPD Subunit 3
  • TFIIH Basal Transcription Factor Complex Helicase Subunit 3
  • EC 3.6.4.12 4
  • EC 3.6.1 56
  • COFS2 3
  • TFIIH 3
  • TTD1 3
  • XPDC 4
  • EM9 3
  • 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]

CIViC summary for ERCC2 Gene

  • ERCC2 functions as a DNA repair gene involved in separating the double helix via 5’-3’ helicase activity. It forms a part of the transcription factor II Human (TFIIH) complex and is ATP-dependent. The TFIIH complex is known to be involved in the nucleotide excision repair pathway (NER) which can repair DNA damage caused by chemotherapeutic treatment and basal transcription. ERCC2 variants have been observed in a variety of cancers. A number of studies have suggested ERCC2 variants can act as biomarkers to predict response to neoadjuvant treatment, and cancer prognosis. Additionally the Lys751Gln polymorphism has been observed to increase risk in a number of cancer types; however, results have been conflicting.

GeneCards Summary for ERCC2 Gene

ERCC2 (ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit) is a Protein Coding gene. Diseases associated with ERCC2 include Xeroderma Pigmentosum, Complementation Group D and Cerebrooculofacioskeletal Syndrome 2. Among its related pathways are RNA Polymerase II Transcription Initiation And Promoter Clearance and Formation of HIV elongation complex in the absence of HIV Tat. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and protein C-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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for ERCC2 Gene

Promoters and enhancers for ERCC2 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
GH19I045369 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 558.1 +0.3 298 2 HDGF PKNOX1 ATF1 ARNT SIN3A DMAP1 YY1 POLR2B GLIS2 ARID2 ERCC2 CCDC61 ENSG00000267114 IRF2BP1 SYMPK ZNF180 PIR45955
GH19I045401 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.7 -33.7 -33654 6.2 CLOCK FEZF1 YY1 ZNF213 E2F8 ZNF143 SP3 MEF2D GLIS1 RCOR2 CD3EAP PPP1R13L CCDC61 ZNF180 CLASRP FBXO46 ENSG00000269148 IRF2BP1 ERCC1 ENSG00000268810
GH19I045250 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 10.7 +118.8 118783 2.9 HDGF YBX1 ZNF48 GLIS2 ZNF143 KLF7 SP3 NCOA1 ZNF592 ZNF610 MARK4 ZNF235 MRPS15P2 ZNF180 ZNF285 IRF2BP1 ZNF112 ERCC2 ENSG00000267114 RELB
GH19I045477 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 10.5 -107.4 -107382 2.4 HDGF PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A ZNF2 ZBTB7B IRF4 ERCC1 PIR58452 TRU-TCA1-1 ZNF180 CCDC61 CD3EAP IRF2BP1 CLASRP PPP1R37 ENSG00000268810
GH19I045320 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 8.8 +48.3 48270 4.7 BCOR ESRRA PKNOX1 ZMYM3 ZNF335 ZNF121 ZFHX2 POLR2A EGR1 PHF20 CKM KLC3 MARK4 ERCC2 DMPK RTN2 PPM1N CD3EAP GC19M045307
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ERCC2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ERCC2 gene promoter:

Genomic Locations for ERCC2 Gene

Genomic Locations for ERCC2 Gene
chr19:45,349,837-45,370,918
(GRCh38/hg38)
Size:
21,082 bases
Orientation:
Minus strand
chr19:45,853,095-45,874,176
(GRCh37/hg19)

Genomic View for ERCC2 Gene

Genes around ERCC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERCC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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;
    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};

    Three dimensional structures from OCA and Proteopedia for ERCC2 Gene

    Alternative splice isoforms for ERCC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ERCC2 Gene

Selected DME Specific Peptides for ERCC2 Gene

P18074:
  • AIKPVFERF
  • SRILKARLE
  • LCIHPEV
  • KLIYCSRTVPEIE
  • LEMPSGTGKT
  • FDEAHNIDNVCI
  • SVARGKV
  • RGKVSEGIDF
  • YSYHYLLDPKIA
  • FDAMRHAAQC
  • GIYNLDDLKA
  • LLVYFPY
  • HHYGRAVIMFG
  • GWCPYFLAR
  • EAVPGSIRTAEHFLGFLRRLLEYVKWRLRVQHVVQESPPA
  • SLPHCRFYEEFD
  • DASLAIKPVF

Post-translational modifications for ERCC2 Gene

Domains & Families for ERCC2 Gene

Gene Families for ERCC2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

P18074

UniProtKB/Swiss-Prot:

ERCC2_HUMAN :
  • Belongs to the helicase family. RAD3/XPD subfamily.
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

Phenotypes From GWAS Catalog for ERCC2 Gene

Gene Ontology (GO) - Molecular Function for ERCC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0004003 ATP-dependent DNA helicase activity IEA --
GO:0004386 helicase activity IEA --
GO:0004672 contributes_to protein kinase activity IDA 9852112
genes like me logo Genes that share ontologies with ERCC2: view
genes like me logo Genes that share phenotypes with ERCC2: view

Human Phenotype Ontology for ERCC2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ERCC2 Gene

MGI Knock Outs for ERCC2:

Animal Model Products

miRNA for ERCC2 Gene

miRTarBase miRNAs that target ERCC2

Clone Products

  • Addgene plasmids for ERCC2

No data available for Transcription Factor Targets 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
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 ERCC2 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

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 IEA,IDA 20797633
GO:0005654 nucleoplasm TAS,IDA --
GO:0005669 transcription factor TFIID complex IDA 27193682
GO:0005675 holo TFIIH complex TAS 7663514
genes like me logo Genes that share ontologies with ERCC2: view

Pathways & Interactions for ERCC2 Gene

SuperPathways for ERCC2 Gene

SuperPathway Contained pathways
1 Formation of HIV elongation complex in the absence of HIV Tat
2 RNA Polymerase II Transcription Initiation And Promoter Clearance
3 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
4 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
5 HIV Life Cycle
.45
genes like me logo Genes that share pathways with ERCC2: view

SIGNOR curated interactions for ERCC2 Gene

Activates:

Gene Ontology (GO) - Biological Process for ERCC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000717 nucleotide-excision repair, DNA duplex unwinding TAS --
GO:0001666 response to hypoxia IEA --
GO:0001701 in utero embryonic development IEA --
GO:0006139 nucleobase-containing compound metabolic process IEA --
GO:0006281 DNA repair IEA --
genes like me logo Genes that share ontologies with ERCC2: view

Drugs & Compounds for ERCC2 Gene

(21) Drugs for ERCC2 Gene - From: PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Potent pro-apoptotic anticancer agent; activates caspase-3, Platinum 2906
Docetaxel Approved May 1996, Investigational Pharma Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes 2040
Gemcitabine Approved Pharma Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs 2100
Oxaliplatin Approved, Investigational Pharma Antitumor agent, Platinum 1560
Fluorouracil Approved Pharma RNA processing inhibitor and thymidylate synthase inhibitor 1970

(10) Additional Compounds for ERCC2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
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:

Clone Products

  • Addgene plasmids for ERCC2

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for ERCC2 Gene

Protein differential expression in normal tissues from HIPED for ERCC2 Gene

This gene is overexpressed in Serum (23.0), Breast (9.1), Liver (7.3), and Monocytes (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ERCC2 Gene



Protein tissue co-expression partners for ERCC2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ERCC2 Gene:

ERCC2

SOURCE GeneReport for Unigene cluster for ERCC2 Gene:

Hs.487294

Phenotype-based relationships between genes and organs from Gene ORGANizer for ERCC2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
  • tooth
Thorax:
  • breast
  • bronchus
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • large intestine
  • small intestine
Pelvis:
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with ERCC2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES 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 33 34
  • 99.3 (n)
oppossum
(Monodelphis domestica)
Mammalia ERCC2 34
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 93 (a)
OneToMany
-- 34
  • 89 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ERCC2 33 34
  • 91.49 (n)
dog
(Canis familiaris)
Mammalia ERCC2 33 34
  • 91.36 (n)
mouse
(Mus musculus)
Mammalia Ercc2 33 16 34
  • 89.21 (n)
rat
(Rattus norvegicus)
Mammalia Ercc2 33
  • 88.51 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia ercc2 33
  • 71.01 (n)
zebrafish
(Danio rerio)
Actinopterygii ercc2 33 34
  • 72.48 (n)
zgc56365 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002988 33
  • 67.44 (n)
fruit fly
(Drosophila melanogaster)
Insecta Xpd 35 33 34
  • 66.3 (n)
worm
(Caenorhabditis elegans)
Secernentea Y50D7A.2 35 33
  • 58.06 (n)
Y50D7A.11 34
  • 51 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR114C 33
  • 56.42 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C17776g 33
  • 52.22 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAD3 33 34
  • 52.03 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons UVH6 33
  • 56.3 (n)
rice
(Oryza sativa)
Liliopsida Os05g0144800 33
  • 58.42 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01625 33
  • 59.53 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rad15 33
  • 54.4 (n)
Species where no ortholog for ERCC2 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)
  • 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

(1) 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 Variation AA Info Type
rs1052555 benign, not specified, Xeroderma pigmentosum 45,352,266(-) G/A coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, synonymous_variant
rs121913016 pathogenic, not-provided, Xeroderma pigmentosum, group D, not specified, Trichothiodystrophy 1, photosensitive, Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675], Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] 45,357,368(-) G/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs121913017 pathogenic, Xeroderma pigmentosum, group D 45,352,223(-) G/A/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant, stop_gained
rs121913018 pathogenic, Trichothiodystrophy 1, photosensitive, Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675] 45,352,226(-) C/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs121913019 pathogenic, Xeroderma pigmentosum, group D, Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] 45,354,774(-) T/C/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
nsv833845 CNV loss 17160897
nsv833844 CNV loss 17160897
nsv579869 CNV loss 21841781
nsv579868 CNV gain 21841781
nsv579867 CNV gain 21841781
nsv515681 CNV loss 19592680
nsv470146 CNV loss 18288195
nsv458711 CNV gain 19166990
nsv442466 CNV gain 18776908
nsv428365 CNV gain+loss 18775914
nsv1160649 CNV duplication 26073780
nsv1160648 CNV duplication 26073780
nsv1063547 CNV gain 25217958
esv3644504 CNV gain 21293372
esv3644502 CNV gain 21293372
dgv3606n100 CNV gain 25217958
dgv29n64 CNV gain 17921354
dgv1054e212 CNV gain 25503493

Variation tolerance for ERCC2 Gene

Residual Variation Intolerance Score: 13.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.97; 93.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ERCC2 Gene

Human Gene Mutation Database (HGMD)
ERCC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ERCC2

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

Disorders for ERCC2 Gene

MalaCards: The human disease database

(19) MalaCards diseases for ERCC2 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ERCC2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ERCC2_HUMAN
  • 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.
  • Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675]: A form of trichothiodystrophy, an autosomal recessive disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD1 patients manifest cutaneous photosensitivity. {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.
  • 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:10447254, ECO:0000269 PubMed:11709541, ECO:0000269 PubMed:15494306, 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.

Additional Disease Information for ERCC2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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No data available for Genatlas for ERCC2 Gene

Publications for ERCC2 Gene

  1. Associations between ERCC2 polymorphisms and gliomas. (PMID: 11319176) Caggana M … Wrensch MR (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2001) 3 4 22 44 58
  2. Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. (PMID: 9238033) Taylor EM … Lehmann AR (Proceedings of the National Academy of Sciences of the United States of America 1997) 3 4 22 44 58
  3. Human xeroderma pigmentosum group D gene encodes a DNA helicase. (PMID: 8413672) Sung P … Prakash S (Nature 1993) 2 3 4 22 58
  4. ERCC2: cDNA cloning and molecular characterization of a human nucleotide excision repair gene with high homology to yeast RAD3. (PMID: 2184031) Weber CA … Thompson LH (The EMBO journal 1990) 2 3 4 22 58
  5. DNA repair gene X-ray repair cross-complementing group 1 and xeroderma pigmentosum group D polymorphisms and risk of prostate cancer: a study from North India. (PMID: 20070155) Mandal RK … Mittal RD (DNA and cell biology 2010) 3 22 44 58

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