ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit [Homo sapiens (human)] - Gene

Summary

Official Symbol: ERCC2provided by HGNC
Official Full Name: ERCC excision repair 2, TFIIH core complex helicase subunitprovided by HGNC
Primary source: HGNC:HGNC:3434
See related: Ensembl:ENSG00000104884 MIM:126340
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EM9; TTD; XPD; TTD1; COFS2; TFIIH
Summary: 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]
Expression: Ubiquitous expression in testis (RPKM 6.4), skin (RPKM 6.1) and 25 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 19q13.32

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
109	current	GRCh38.p12 (GCF_000001405.38)	19	NC_000019.10 (45349837..45370647, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (45854649..45873845, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

The results indicated that polymorphisms in nucleotide excision repair genes ERCC1, XPC and ERCC2 might influence ovarian cancer susceptibility.
Title: The association of polymorphisms in nucleotide excision repair genes with ovarian cancer susceptibility.
restriction fragment length polymorphism (RFLP) method was used for evaluating of XPD (-751), XRCC4 (-1394 and a variable number of tandem repeats in intron 3), and XRCC1 (-399) genes. We observed a notable distinction in patients having endometrial hyperplasia without atypia (the SH+CH group) and the CAH group in terms of XPD (-751) gene polymorphisms.
Title: DNA Repair Gene (XPD, XRCC4, and XRCC1) Polymorphisms in Patients with Endometrial Hyperplasia: A Pilot Study.
Homozygous CC genotype of the polymorphic site of gene XPD A751C is associated with non-small cell lung cancer development. Statistically significant differences in the distribution of polymorphic variants of gene A751C XPD depending on spread of cancer were not received.
Title: THE STUDY OF POLYMORPHISMS OF XPD GENE A751C IN LUNG CANCER PATIENTS WITH DIFFERENT CLINICAL AND MORPHOLOGICAL CHARACTERISTICS OF TUMOR.
Data suggest that miR1385p regulates the sensitivity of gastric cancer cells to cisplatin, possibly by modulating expression of the DNA repair proteins ERCC1 and ERCC4.
Title: miR‑138‑5p modulates the expression of excision repair cross‑complementing proteins ERCC1 and ERCC4, and regulates the sensitivity of gastric cancer cells to cisplatin.
Data revealed that XPD silencing promoted growth of hepatoma cells by reducing P53 expression.
Title: Silencing of Xeroderma Pigmentosum Group D Gene Promotes Hepatoma Cell Growth by Reducing P53 Expression.
Polymorphic variants of XRCC1 Arg399Gln and XPD Lys751Gln are not associated with the risk of gastric cancer in the Kashmiri population.
Title: DNA Repair Gene XRCC1 and XPD Polymorphisms and Gastric Cancer Risk: A Case-Control Study Outcome from Kashmir, India.
A significant association was discovered between the rs1799793 A allele and increased Diffuse Large B-Cell Lymphoma risk (P=0.031, OR=1.928, 95% CI=1.052-3.534). The C allele of rs13181 was obviously associated with elevated Diffuse Large B-Cell Lymphoma susceptibility (P=0.047, OR=1.820, 95% CI=1.002-3.305).
Title: Association of ERCC2 Gene Polymorphisms with Susceptibility to Diffuse Large B-Cell Lymphoma.
Results identified a significant relationship between SNP rs13181 of ERCC2 and an increased risk of endometrial cancer development.
Title: Studies of Correlations Between Single Nucleotide Polymorphisms of DNA Repair Genes and Endometrial Cancer in Polish Women.
ERCC2 polymorphism is associated with breast cancer susceptibility.
Title: Significant association between ERCC2 and MTHR polymorphisms and breast cancer susceptibility in Moroccan population: genotype and haplotype analysis in a case-control study.
These results provide new evidence to reveal the role of XPD in Cutaneous squamous cell carcinoma A431 cells.
Title: Role of Xeroderma Pigmentosum Group D in Cell Cycle and Apoptosis in Cutaneous Squamous Cell Carcinoma A431 Cells.

Submit: New GeneRIF Correction See all GeneRIFs (449)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cerebrooculofacioskeletal syndrome 2 MedGen: C1853102 OMIM: 610756 GeneReviews: Not available	Compare labs
Trichothiodystrophy 1, photosensitive MedGen: C1866504 OMIM: 601675 GeneReviews: Not available	Compare labs
Xeroderma pigmentosum, group D MedGen: C0268138 OMIM: 278730 GeneReviews: Xeroderma Pigmentosum	Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study reveals novel genetic determinants of DNA repair capacity in lung cancer. NHGRI GWA Catalog NHGRI GWA CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Rev	rev	HIV-1 Rev interacting protein, excision repair cross-complementing rodent repair deficiency, complementation group 2 (ERCC2), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells	PubMed
	rev	The interaction of Rev with ERCC2 is increased by the presence of RRE	PubMed
Tat	tat	HIV-1 Tat interacts with the RNA polymerase II holoenzyme and transcription preinitiation complexes, which include TFIIH, during Tat-mediated transactivation of the HIV-1 LTR	PubMed
	tat	Interaction of HIV-1 Tat with TFIIH stimulates phosphorylation of Ser-5 of the RNA polymerase II C-terminal domain (CTD), which in turn also stimulates co-transcriptional capping of HIV-1 mRNA	PubMed
	tat	TFIIH interacts with HIV-1 Tat as a component of the HIV-1 transcription preinitiation complex, but is released from the elongation complex which includes P-TEFb	PubMed
	tat	Amino acids 1-48 of HIV-1 Tat, which includes the Tat activation domain, mediate the binding of Tat to CAK and the TFIIH complex through a direct interaction with CDK7 and possibly other TFIIH subunits, including p62 and ERCC3	PubMed
	tat	CAK/TFIIH is required for HIV-1 Tat-mediated transactivation of the HIV-1 LTR promoter	PubMed
	tat	TFIIH synergizes with HIV-1 Tat to induce transcription elongation from the HIV-1 LTR promoter	PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

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Basal transcription factors, organism-specific biosystem (from KEGG)
Basal transcription factors, organism-specific biosystem
Basal transcription factors
Basal transcription factors, conserved biosystem (from KEGG)
Basal transcription factors, conserved biosystem
Basal transcription factors
Cytosolic iron-sulfur cluster assembly, organism-specific biosystem (from REACTOME)
Cytosolic iron-sulfur cluster assembly, organism-specific biosystemIron-sulfur clusters containing 4 atoms of iron and 4 atoms of sulfur (4Fe-4S clusters) are assembled in the cytosol on a heterotetrameric scaffold composed of NUBP2 and NUBP1 subunits (reviewed in L...
DNA Repair, organism-specific biosystem (from REACTOME)
DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
Disease, organism-specific biosystem (from REACTOME)
Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
Dual Incision in GG-NER, organism-specific biosystem (from REACTOME)
Dual Incision in GG-NER, organism-specific biosystemDouble incision at the damaged DNA strand excises the oligonucleotide that contains the lesion from the open bubble. The excised oligonucleotide is ~27-30 bases long. Incision 5' to the damage site, ...
Dual incision in TC-NER, organism-specific biosystem (from REACTOME)
Dual incision in TC-NER, organism-specific biosystemIn transcription-coupled nucleotide excision repair (TC-NER), similar to global genome nucleotide excision repair (GG-NER), the oligonucleotide that contains the lesion is excised from the open bubbl...
Epigenetic regulation of gene expression, organism-specific biosystem (from REACTOME)
Epigenetic regulation of gene expression, organism-specific biosystemEpigenetic processes regulate gene expression by modulating the frequency, rate, or extent of gene expression in a mitotically or meiotically heritable way that does not entail a change in the DNA se...
Eukaryotic Transcription Initiation, organism-specific biosystem (from WikiPathways)
Eukaryotic Transcription Initiation, organism-specific biosystemIn eukaryotes, RNA polymerase, and therefore the initiation of transcription, requires the presence of a core promoter sequence in the DNA. RNA polymerase is able to bind to core promoters in the pre...
Fluoropyrimidine Activity, organism-specific biosystem (from WikiPathways)
Fluoropyrimidine Activity, organism-specific biosystemThe main mechanism of 5-FU activation is conversion to fluorodeoxyuridine monophosphate (FdUMP) which inhibits the enzyme thymidylate synthase (TYMS), an important part of the folate-homocysteine cyc...
Formation of HIV elongation complex in the absence of HIV Tat, organism-specific biosystem (from REACTOME)
Formation of HIV elongation complex in the absence of HIV Tat, organism-specific biosystem
Formation of HIV elongation complex in the absence of HIV Tat
Formation of HIV-1 elongation complex containing HIV-1 Tat, organism-specific biosystem (from REACTOME)
Formation of HIV-1 elongation complex containing HIV-1 Tat, organism-specific biosystemThis HIV-1 event was inferred from the corresponding human RNA Poll II transcription event in Reactome. The details relevant to HIV-1 are described below. For a more detailed description of the gener...
Formation of Incision Complex in GG-NER, organism-specific biosystem (from REACTOME)
Formation of Incision Complex in GG-NER, organism-specific biosystemAfter the XPC complex and the UV-DDB complex bind damaged DNA, a basal transcription factor TFIIH is recruited to the nucleotide excision repair (NER) site (Volker et al. 2001, Riedl et al. 2003). DN...
Formation of RNA Pol II elongation complex, organism-specific biosystem (from REACTOME)
Formation of RNA Pol II elongation complex, organism-specific biosystemTFIIS is a transcription factor involved in different phases of transcription, occurring in a major ubiquitous form and other tissue specific forms. TFIIS stimulates RNA Pol II complex out of elonga...
Formation of TC-NER Pre-Incision Complex, organism-specific biosystem (from REACTOME)
Formation of TC-NER Pre-Incision Complex, organism-specific biosystemFormation of TC-NER pre-incision complex is initiated when the RNA polymerase II (RNA Pol II) complex stalls at a DNA damage site. The stalling is caused by misincorporation of a ribonucleotide oppos...
Formation of the Early Elongation Complex, organism-specific biosystem (from REACTOME)
Formation of the Early Elongation Complex, organism-specific biosystemTranscription elongation by RNA polymerase II (RNAPII) is controlled by a number of trans-acting transcription elongation factors as well as by cis-acting elements. Transcription elongation is a rat...
Formation of the HIV-1 Early Elongation Complex, organism-specific biosystem (from REACTOME)
Formation of the HIV-1 Early Elongation Complex, organism-specific biosystemThis HIV-1 event was inferred from the corresponding human RNA Poll II transcription event. The details relevant to HIV-1 are described below. Formation of the early elongation complex involves hypo...
Gap-filling DNA repair synthesis and ligation in TC-NER, organism-specific biosystem (from REACTOME)
Gap-filling DNA repair synthesis and ligation in TC-NER, organism-specific biosystemIn transcription-coupled nucleotide excision repair (TC-NER), similar to global genome nucleotide excision repair (GG-NER), DNA polymerases delta or epsilon, or the Y family DNA polymerase kappa, fil...
Gene Expression, organism-specific biosystem (from REACTOME)
Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
Global Genome Nucleotide Excision Repair (GG-NER), organism-specific biosystem (from REACTOME)
Global Genome Nucleotide Excision Repair (GG-NER), organism-specific biosystemThe DNA damage in GG-NER is recognized by the joint action of two protein complexes. The first complex is composed of XPC, RAD23A or RAD23B and CETN2. The second complex, known as the UV-DDB complex,...
HIV Infection, organism-specific biosystem (from REACTOME)
HIV Infection, organism-specific biosystemThe global pandemic of Human Immunodeficiency Virus (HIV) infection has resulted in tens of millions of people infected by the virus and millions more affected. UNAIDS estimates around 40 million ...
HIV Life Cycle, organism-specific biosystem (from REACTOME)
HIV Life Cycle, organism-specific biosystemThe life cycle of HIV-1 is divided into early and late phases, shown schematically in the figure. In the early phase, an HIV-1 virion binds to receptors and co-receptors on the human host cell surfac...
HIV Transcription Elongation, organism-specific biosystem (from REACTOME)
HIV Transcription Elongation, organism-specific biosystemIn the absence of the HIV-1 protein Tat, transcription of the proviral DNA is inefficient and results in the production of truncated transcripts (Kao et al., 1987). While initiation of transcription ...
HIV Transcription Initiation, organism-specific biosystem (from REACTOME)
HIV Transcription Initiation, organism-specific biosystemFormation of the open complex exposes the template strand to the catalytic center of the RNA polymerase II enzyme. This facilitates formation of the first phosphodiester bond, which marks transcript...
Holo-TFIIH complex, organism-specific biosystem (from KEGG)
Holo-TFIIH complex, organism-specific biosystemStructural complex; Genetic information processing; Repair system
Holo-TFIIH complex, conserved biosystem (from KEGG)
Holo-TFIIH complex, conserved biosystemStructural complex; Genetic information processing; Repair system
Infectious disease, organism-specific biosystem (from REACTOME)
Infectious disease, organism-specific biosystem
Infectious disease
Late Phase of HIV Life Cycle, organism-specific biosystem (from REACTOME)
Late Phase of HIV Life Cycle, organism-specific biosystemThe late phase of the HIV-1 life cycle includes the regulated expression of the HIV gene products and the assembly of viral particles. The assembly of viral particles will be covered in a later relea...
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Negative epigenetic regulation of rRNA expression, organism-specific biosystem (from REACTOME)
Negative epigenetic regulation of rRNA expression, organism-specific biosystemTranscription of rRNA genes is controlled by epigenetic activation and repression (reviewed in McStay and Grummt 2008, Goodfellow and Zomerdijk 2012, Grummt and Langst 2013). About half of the roughl...
NoRC negatively regulates rRNA expression, organism-specific biosystem (from REACTOME)
NoRC negatively regulates rRNA expression, organism-specific biosystemOnly about half of the rRNA gene copies in a cell are expressed. The remaining copies are silenced by modifications to histones and DNA (reviewed in Santoro and Grummt 2001, Grummt 2007, Preuss and P...
Nucleotide Excision Repair, organism-specific biosystem (from REACTOME)
Nucleotide Excision Repair, organism-specific biosystemNucleotide excision repair (NER) was first described in the model organism E. coli in the early 1960s as a process whereby bulky base damage is enzymatically removed from DNA, facilitating the recove...
Nucleotide excision repair, organism-specific biosystem (from KEGG)
Nucleotide excision repair, organism-specific biosystemNucleotide excision repair (NER) is a mechanism to recognize and repair bulky DNA damage caused by compounds, environmental carcinogens, and exposure to UV-light. In humans hereditary defects in the ...
Nucleotide excision repair, conserved biosystem (from KEGG)
Nucleotide excision repair, conserved biosystemNucleotide excision repair (NER) is a mechanism to recognize and repair bulky DNA damage caused by compounds, environmental carcinogens, and exposure to UV-light. In humans hereditary defects in the ...
RNA Pol II CTD phosphorylation and interaction with CE, organism-specific biosystem (from REACTOME)
RNA Pol II CTD phosphorylation and interaction with CE, organism-specific biosystemTo facilitate co-transcriptional capping, and thereby restrict the cap structure to RNAs made by RNA polymerase II, the capping enzymes bind directly to the RNA polymerase II. The C-terminal domain ...
RNA Pol II CTD phosphorylation and interaction with CE during HIV infection, organism-specific biosystem (from REACTOME)
RNA Pol II CTD phosphorylation and interaction with CE during HIV infection, organism-specific biosystemTo facilitate co-transcriptional capping, and thereby restrict the cap structure to RNAs made by RNA polymerase II, the capping enzymes bind directly to the RNA polymerase II. The C-terminal domain ...
RNA Polymerase I Chain Elongation, organism-specific biosystem (from REACTOME)
RNA Polymerase I Chain Elongation, organism-specific biosystem
RNA Polymerase I Chain Elongation
RNA Polymerase I Promoter Clearance, organism-specific biosystem (from REACTOME)
RNA Polymerase I Promoter Clearance, organism-specific biosystemPromoter clearance is one of the rate-limiting steps in Polymerase I transcription. This step is composed of three phases, promoter opening, transcription initiation and promoter escape.
RNA Polymerase I Promoter Escape, organism-specific biosystem (from REACTOME)
RNA Polymerase I Promoter Escape, organism-specific biosystemAs the active RNA Polymerase I complex leaves the promoter Rrn3 dissociates from the complex. RNA polymerase I Promoter Clearance is complete and Chain Elongation begins.
RNA Polymerase I Transcription, organism-specific biosystem (from REACTOME)
RNA Polymerase I Transcription, organism-specific biosystemThe rRNA genes are transcribed by RNA polymerase I, one of three eukaryotic nuclear RNA polymerases. The polymerase is a multisubunit complex, composed of two large subunits (the most conserved porti...
RNA Polymerase I Transcription Initiation, organism-specific biosystem (from REACTOME)
RNA Polymerase I Transcription Initiation, organism-specific biosystemDuring initiation the double-stranded DNA must be melted and transcription begins. SL1 forms and interacts with UBF-1 and the rDNA promoter. It is this platform that will recruit active RNA polymeras...
RNA Polymerase I Transcription Termination, organism-specific biosystem (from REACTOME)
RNA Polymerase I Transcription Termination, organism-specific biosystemTermination of transcription by RNA polymerase I is a 4 step process. Initially TTF-1 binds the template rDNA. This complex pauses polymerase I allowing PTRF to interact with the quaternary complex ...
RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription, organism-specific biosystem (from REACTOME)
RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription, organism-specific biosystemTranscription by RNA Polymerase I, RNA Polymerase III and transcription from mitochondrial promoters.
RNA Polymerase II HIV Promoter Escape, organism-specific biosystem (from REACTOME)
RNA Polymerase II HIV Promoter Escape, organism-specific biosystemRNA Polymerase II promoter escape occurs after the first phosphodiester bond has been created.
RNA Polymerase II Pre-transcription Events, organism-specific biosystem (from REACTOME)
RNA Polymerase II Pre-transcription Events, organism-specific biosystem
RNA Polymerase II Pre-transcription Events
RNA Polymerase II Promoter Escape, organism-specific biosystem (from REACTOME)
RNA Polymerase II Promoter Escape, organism-specific biosystemRNA Polymerase II promoter escape occurs after the first phosphodiester bond has been created.
RNA Polymerase II Transcription, organism-specific biosystem (from REACTOME)
RNA Polymerase II Transcription, organism-specific biosystem
RNA Polymerase II Transcription
RNA Polymerase II Transcription Elongation, organism-specific biosystem (from REACTOME)
RNA Polymerase II Transcription Elongation, organism-specific biosystemThe mechanisms governing the process of elongation during eukaryotic mRNA synthesis are being unraveled by recent studies. These studies have led to the expected discovery of a diverse collection of ...
RNA Polymerase II Transcription Initiation, organism-specific biosystem (from REACTOME)
RNA Polymerase II Transcription Initiation, organism-specific biosystemFormation of the open complex exposes the template strand to the catalytic center of the RNA polymerase II enzyme. This facilitates formation of the first phosphodiester bond, which marks transcript...
RNA Polymerase II Transcription Initiation And Promoter Clearance, organism-specific biosystem (from REACTOME)
RNA Polymerase II Transcription Initiation And Promoter Clearance, organism-specific biosystem
RNA Polymerase II Transcription Initiation And Promoter Clearance
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening, organism-specific biosystem (from REACTOME)
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening, organism-specific biosystemFormation of the pre-initiation complex
TP53 Regulates Transcription of DNA Repair Genes, organism-specific biosystem (from REACTOME)
TP53 Regulates Transcription of DNA Repair Genes, organism-specific biosystemSeveral DNA repair genes contain p53 response elements and their transcription is positively regulated by TP53 (p53). TP53-mediated regulation probably ensures increased protein level of DNA repair g...
Tat-mediated elongation of the HIV-1 transcript, organism-specific biosystem (from REACTOME)
Tat-mediated elongation of the HIV-1 transcript, organism-specific biosystemThe Tat protein is a viral transactivator protein that regulates HIV-1 gene expression by controlling RNA Pol II-mediated elongation (reviewed in Karn 1999; Taube et al. 1999; Liou et al. 2004; Barb...
Transcription of the HIV genome, organism-specific biosystem (from REACTOME)
Transcription of the HIV genome, organism-specific biosystemExpression of the integrated HIV-1 provirus is dependent on the host cell Pol II transcription machinery, but is regulated in critical ways by HIV-1 Tat and Rev proteins. The long terminal repeats (L...
Transcription-Coupled Nucleotide Excision Repair (TC-NER), organism-specific biosystem (from REACTOME)
Transcription-Coupled Nucleotide Excision Repair (TC-NER), organism-specific biosystemDNA damage in transcribed strands of active genes is repaired through a specialized nucleotide excision repair (NER) pathway known as transcription-coupled nucleotide excision repair (TC-NER). TC-NER...
Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...
mRNA Capping, organism-specific biosystem (from REACTOME)
mRNA Capping, organism-specific biosystemThe 5'-ends of all eukaryotic pre-mRNAs studied thus far are converted to cap structures. The cap is thought to influence splicing of the first intron, and is bound by 'cap-binding' proteins, CBP80 a...

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D19S908 (e-PCR), detects polymorphism
- UniSTS:56071

MARC_23995-23996:1029525921:1 (e-PCR)
- UniSTS:268821

RH15967 (e-PCR)
- UniSTS:68429

GDB:512988 (e-PCR)
- UniSTS:157537

GDB:364012 (e-PCR)
- UniSTS:156797

GDB:364015 (e-PCR)
- UniSTS:156798

GDB:364018 (e-PCR)
- UniSTS:156799

GDB:364021 (e-PCR)
- UniSTS:156800

GDB:364025 (e-PCR)
- UniSTS:156801

GDB:364029 (e-PCR)
- UniSTS:156802

RH80858 (e-PCR)
- UniSTS:83698

Homology

Homologs of the ERCC2 gene: The ERCC2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, E.gossypii, S.pombe, M.oryzae, N.crassa, A.thaliana, rice, and frog.
Orthologs from Annotation Pipeline: 204 organisms have orthologs with human gene ERCC2
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
4 iron, 4 sulfur cluster binding	IEA Inferred from Electronic Annotation more info
5'-3' DNA helicase activity	IDA Inferred from Direct Assay more info	PubMed
ATP binding	IEA Inferred from Electronic Annotation more info
ATP-dependent 5'-3' DNA helicase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
ATP-dependent DNA helicase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
contributes_to DNA-dependent ATPase activity	IDA Inferred from Direct Assay more info	PubMed
DNA-dependent ATPase activity	TAS Traceable Author Statement more info	PubMed
contributes_to RNA polymerase II CTD heptapeptide repeat kinase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
contributes_to RNA polymerase II CTD heptapeptide repeat kinase activity	IDA Inferred from Direct Assay more info	PubMed
damaged DNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
metal ion binding	IEA Inferred from Electronic Annotation more info
protein C-terminus binding	IPI Inferred from Physical Interaction more info	PubMed
protein N-terminus binding	IPI Inferred from Physical Interaction more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein binding, bridging	IPI Inferred from Physical Interaction more info	PubMed
contributes_to protein kinase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
7-methylguanosine mRNA capping	TAS Traceable Author Statement more info
UV protection	IGI Inferred from Genetic Interaction more info	PubMed
aging	IEA Inferred from Electronic Annotation more info
apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
bone mineralization	IEA Inferred from Electronic Annotation more info
cell proliferation	IEA Inferred from Electronic Annotation more info
central nervous system myelin formation	IEA Inferred from Electronic Annotation more info
chromosome segregation	IMP Inferred from Mutant Phenotype more info	PubMed
embryonic cleavage	IEA Inferred from Electronic Annotation more info
embryonic organ development	IEA Inferred from Electronic Annotation more info
erythrocyte maturation	IEA Inferred from Electronic Annotation more info
extracellular matrix organization	IEA Inferred from Electronic Annotation more info
global genome nucleotide-excision repair	TAS Traceable Author Statement more info
hair cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
hair follicle maturation	IEA Inferred from Electronic Annotation more info
hematopoietic stem cell differentiation	IEA Inferred from Electronic Annotation more info
in utero embryonic development	IEA Inferred from Electronic Annotation more info
multicellular organism growth	IEA Inferred from Electronic Annotation more info
nucleotide-excision repair	IGI Inferred from Genetic Interaction more info	PubMed
nucleotide-excision repair	NAS Non-traceable Author Statement more info	PubMed
nucleotide-excision repair, DNA duplex unwinding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
nucleotide-excision repair, DNA duplex unwinding	TAS Traceable Author Statement more info
nucleotide-excision repair, DNA incision	IBA Inferred from Biological aspect of Ancestor more info	PubMed
nucleotide-excision repair, DNA incision	IMP Inferred from Mutant Phenotype more info	PubMed
nucleotide-excision repair, DNA incision	TAS Traceable Author Statement more info
nucleotide-excision repair, DNA incision, 3'-to lesion	TAS Traceable Author Statement more info
nucleotide-excision repair, DNA incision, 5'-to lesion	TAS Traceable Author Statement more info
nucleotide-excision repair, preincision complex assembly	TAS Traceable Author Statement more info
nucleotide-excision repair, preincision complex stabilization	TAS Traceable Author Statement more info
positive regulation of DNA binding	IEA Inferred from Electronic Annotation more info
positive regulation of mitotic recombination	IBA Inferred from Biological aspect of Ancestor more info	PubMed
positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
positive regulation of transcription, DNA-templated	IBA Inferred from Biological aspect of Ancestor more info	PubMed
positive regulation of transcription, DNA-templated	IDA Inferred from Direct Assay more info	PubMed
post-embryonic development	IEA Inferred from Electronic Annotation more info
protein phosphorylation	IEA Inferred from Electronic Annotation more info
regulation of mitotic cell cycle phase transition	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of mitotic recombination	IBA Inferred from Biological aspect of Ancestor more info	PubMed
response to UV	IBA Inferred from Biological aspect of Ancestor more info	PubMed
response to hypoxia	IEA Inferred from Electronic Annotation more info
response to oxidative stress	IBA Inferred from Biological aspect of Ancestor more info	PubMed
response to oxidative stress	IMP Inferred from Mutant Phenotype more info	PubMed
spinal cord development	IEA Inferred from Electronic Annotation more info
termination of RNA polymerase I transcription	TAS Traceable Author Statement more info
transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info	PubMed
transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
transcription by RNA polymerase II	TAS Traceable Author Statement more info	PubMed
transcription elongation from RNA polymerase I promoter	TAS Traceable Author Statement more info
transcription elongation from RNA polymerase II promoter	TAS Traceable Author Statement more info
transcription initiation from RNA polymerase I promoter	TAS Traceable Author Statement more info
transcription initiation from RNA polymerase II promoter	TAS Traceable Author Statement more info
transcription-coupled nucleotide-excision repair	IDA Inferred from Direct Assay more info	PubMed
transcription-coupled nucleotide-excision repair	TAS Traceable Author Statement more info
viral process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
CAK-ERCC2 complex	IDA Inferred from Direct Assay more info	PubMed
MMXD complex	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytosol	IDA Inferred from Direct Assay more info
nucleoplasm	IDA Inferred from Direct Assay more info
nucleoplasm	TAS Traceable Author Statement more info
nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed
spindle	IDA Inferred from Direct Assay more info	PubMed
transcription factor TFIID complex	IDA Inferred from Direct Assay more info	PubMed
transcription factor TFIIH core complex	IEA Inferred from Electronic Annotation more info
transcription factor TFIIH holo complex	IDA Inferred from Direct Assay more info	PubMed
transcription factor TFIIH holo complex	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: general transcription and DNA repair factor IIH helicase subunit XPD

Names: BTF2 p80; CXPD; DNA excision repair protein ERCC-2; DNA repair protein complementing XP-D cells; TFIIH 80 kDa subunit; TFIIH basal transcription factor complex 80 kDa subunit; TFIIH basal transcription factor complex helicase XPB subunit; TFIIH basal transcription factor complex helicase XPD subunit; TFIIH basal transcription factor complex helicase subunit; TFIIH p80; TFIIH subunit XPD; basic transcription factor 2 80 kDa subunit; excision repair cross-complementation group 2; excision repair cross-complementing rodent repair deficiency, complementation group 2; xeroderma pigmentosum complementary group D; xeroderma pigmentosum group D-complementing protein

NP_000391.1

EC 3.6.4.12

NP_001124339.1

EC 3.6.4.12

XP_011524913.1

EC 3.6.4.12

XP_016881956.1

EC 3.6.4.12

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007067.2 RefSeqGene

Range

5001..24197

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_461

mRNA and Protein(s)

NM_000400.3 → NP_000391.1 general transcription and DNA repair factor IIH helicase subunit XPD isoform 1

See identical proteins and their annotated locations for NP_000391.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

BC108255, CN388234, DA409300

Consensus CDS

CCDS33049.1

UniProtKB/Swiss-Prot

P18074

Related

ENSP00000375809.3, ENST00000391945.9

Conserved Domains (1) summary

TIGR00604
Location:7 → 708

rad3; DNA repair helicase (rad3)
NM_001130867.1 → NP_001124339.1 general transcription and DNA repair factor IIH helicase subunit XPD isoform 2

See identical proteins and their annotated locations for NP_001124339.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) has an additional segment in the 5' region, which results in a downstream AUG start codon, and lacks multiple 3' exons but has an alternate 3' exon, as compared to variant 1. The resulting isoform (2) has a shorter N-terminus and a distinct and shorter C-terminus, as compared to isoform 1.

Source sequence(s)

AL535248, BC008346, BG719746, BT006883, DA409300

Consensus CDS

CCDS46112.1

UniProtKB/Swiss-Prot

P18074

Related

ENSP00000431229.2, ENST00000485403.6

Conserved Domains (2) summary

smart00488
Location:1 → 256

DEXDc2; DEAD-like helicases superfamily

pfam06777
Location:248 → 389

HBB; Helical and beta-bridge domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p12 Primary Assembly

Range

45349837..45370647 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011526611.2 → XP_011524913.1 general transcription and DNA repair factor IIH helicase subunit XPD isoform X1

Conserved Domains (4) summary

smart00488
Location:8 → 254

DEXDc2; DEAD-like helicases superfamily

smart00491
Location:516 → 660

HELICc2; helicase superfamily c-terminal domain

TIGR00604
Location:7 → 682

rad3; DNA repair helicase (rad3)

pfam06777
Location:246 → 387

HBB; Helical and beta-bridge domain
XM_017026467.1 → XP_016881956.1 general transcription and DNA repair factor IIH helicase subunit XPD isoform X2