ERCC2 | ENSG00000104884 | NCBI 2068

Details for: ERCC2

Gene ID: 2068

Symbol: ERCC2

Ensembl ID: ENSG00000104884

Description: ERCC excision repair 2, TFIIH core complex helicase subunit

Associated with

Cytosolic iron-sulfur cluster assembly
(R-HSA-2564830)
Disease
(R-HSA-1643685)
Dna repair
(R-HSA-73894)
Dual incision in gg-ner
(R-HSA-5696400)
Dual incision in tc-ner
(R-HSA-6782135)
Epigenetic regulation of gene expression
(R-HSA-212165)
Formation of hiv-1 elongation complex containing hiv-1 tat
(R-HSA-167200)
Formation of hiv elongation complex in the absence of hiv tat
(R-HSA-167152)
Formation of incision complex in gg-ner
(R-HSA-5696395)
Formation of rna pol ii elongation complex
(R-HSA-112382)
Formation of tc-ner pre-incision complex
(R-HSA-6781823)
Formation of the early elongation complex
(R-HSA-113418)
Formation of the hiv-1 early elongation complex
(R-HSA-167158)
Gap-filling dna repair synthesis and ligation in tc-ner
(R-HSA-6782210)
Gene expression (transcription)
(R-HSA-74160)
Generic transcription pathway
(R-HSA-212436)
Global genome nucleotide excision repair (gg-ner)
(R-HSA-5696399)
Hiv infection
(R-HSA-162906)
Hiv life cycle
(R-HSA-162587)
Hiv transcription elongation
(R-HSA-167169)
Hiv transcription initiation
(R-HSA-167161)
Infectious disease
(R-HSA-5663205)
Late phase of hiv life cycle
(R-HSA-162599)
Metabolism
(R-HSA-1430728)
Metabolism of rna
(R-HSA-8953854)
Mrna capping
(R-HSA-72086)
Negative epigenetic regulation of rrna expression
(R-HSA-5250941)
Norc negatively regulates rrna expression
(R-HSA-427413)
Nucleotide excision repair
(R-HSA-5696398)
Rna pol ii ctd phosphorylation and interaction with ce
(R-HSA-77075)
Rna pol ii ctd phosphorylation and interaction with ce during hiv infection
(R-HSA-167160)
Rna polymerase ii hiv promoter escape
(R-HSA-167162)
Rna polymerase ii pre-transcription events
(R-HSA-674695)
Rna polymerase ii promoter escape
(R-HSA-73776)
Rna polymerase ii transcription
(R-HSA-73857)
Rna polymerase ii transcription elongation
(R-HSA-75955)
Rna polymerase ii transcription initiation
(R-HSA-75953)
Rna polymerase ii transcription initiation and promoter clearance
(R-HSA-76042)
Rna polymerase ii transcription pre-initiation and promoter opening
(R-HSA-73779)
Rna polymerase i promoter clearance
(R-HSA-73854)
Rna polymerase i promoter escape
(R-HSA-73772)
Rna polymerase i transcription
(R-HSA-73864)
Rna polymerase i transcription initiation
(R-HSA-73762)
Rna polymerase i transcription termination
(R-HSA-73863)
Tat-mediated elongation of the hiv-1 transcript
(R-HSA-167246)
Tp53 regulates transcription of dna repair genes
(R-HSA-6796648)
Transcription-coupled nucleotide excision repair (tc-ner)
(R-HSA-6781827)
Transcriptional regulation by tp53
(R-HSA-3700989)
Transcription of the hiv genome
(R-HSA-167172)
Viral infection pathways
(R-HSA-9824446)
4 iron, 4 sulfur cluster binding
(GO:0051539)
5'-3' dna helicase activity
(GO:0043139)
Apoptotic process
(GO:0006915)
Atp binding
(GO:0005524)
Atp hydrolysis activity
(GO:0016887)
Bone mineralization
(GO:0030282)
Central nervous system myelin formation
(GO:0032289)
Chromosome segregation
(GO:0007059)
Damaged dna binding
(GO:0003684)
Determination of adult lifespan
(GO:0008340)
Dna duplex unwinding
(GO:0032508)
Dna helicase activity
(GO:0003678)
Embryonic cleavage
(GO:0040016)
Embryonic organ development
(GO:0048568)
Erythrocyte maturation
(GO:0043249)
Extracellular matrix organization
(GO:0030198)
Hair cell differentiation
(GO:0035315)
Hair follicle maturation
(GO:0048820)
Hematopoietic stem cell differentiation
(GO:0060218)
Hematopoietic stem cell proliferation
(GO:0071425)
Insulin-like growth factor receptor signaling pathway
(GO:0048009)
Intrinsic apoptotic signaling pathway by p53 class mediator
(GO:0072332)
In utero embryonic development
(GO:0001701)
Isomerase activity
(GO:0016853)
Maturation of ssu-rrna from tricistronic rrna transcript (ssu-rrna, 5.8s rrna, lsu-rrna)
(GO:0000462)
Metal ion binding
(GO:0046872)
Multicellular organism growth
(GO:0035264)
Nucleotide-excision repair
(GO:0006289)
Nucleus
(GO:0005634)
Positive regulation of mitotic recombination
(GO:0045951)
Post-embryonic development
(GO:0009791)
Protein-macromolecule adaptor activity
(GO:0030674)
Protein binding
(GO:0005515)
Regulation of mitotic cell cycle phase transition
(GO:1901990)
Regulation of transcription by rna polymerase ii
(GO:0006357)
Response to hypoxia
(GO:0001666)
Response to oxidative stress
(GO:0006979)
Spinal cord development
(GO:0021510)
Transcription-coupled nucleotide-excision repair
(GO:0006283)
Transcription by rna polymerase ii
(GO:0006366)
Transcription elongation by rna polymerase i
(GO:0006362)
Transcription factor tfiih core complex
(GO:0000439)
Transcription initiation at rna polymerase ii promoter
(GO:0006367)
Uv protection
(GO:0009650)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: polychromatophilic erythroblast (CL0000550)
Fold Change: 64.9972
Cell Significance Index: -10.1100
Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
Fold Change: 37.3359
Cell Significance Index: -9.4700
Cell Name: smooth muscle fiber of ileum (CL1000278)
Fold Change: 25.3112
Cell Significance Index: -11.9500
Cell Name: mucosal type mast cell (CL0000485)
Fold Change: 25.0580
Cell Significance Index: -10.1800
Cell Name: ciliated cell of the bronchus (CL0002332)
Fold Change: 10.6730
Cell Significance Index: -10.1900
Cell Name: orthochromatic erythroblast (CL0000552)
Fold Change: 8.6783
Cell Significance Index: -10.7000
Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
Fold Change: 4.0241
Cell Significance Index: -10.7800
Cell Name: stromal cell of bone marrow (CL0010001)
Fold Change: 2.8104
Cell Significance Index: -11.0900
Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
Fold Change: 2.5558
Cell Significance Index: -7.8500
Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 1.5258
Cell Significance Index: 290.3800
Cell Name: colon goblet cell (CL0009039)
Fold Change: 1.0949
Cell Significance Index: 108.3100
Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: 0.8634
Cell Significance Index: 11.7800
Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.7792
Cell Significance Index: 703.6000
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.6331
Cell Significance Index: 68.8600
Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.5880
Cell Significance Index: 95.6400
Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.5845
Cell Significance Index: 35.0900
Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: 0.4642
Cell Significance Index: 54.1000
Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.3591
Cell Significance Index: 71.2700
Cell Name: granulosa cell (CL0000501)
Fold Change: 0.3404
Cell Significance Index: 8.9500
Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: 0.3154
Cell Significance Index: 21.8100
Cell Name: proerythroblast (CL0000547)
Fold Change: 0.2516
Cell Significance Index: 3.6100
Cell Name: bladder urothelial cell (CL1001428)
Fold Change: 0.2433
Cell Significance Index: 12.6400
Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 0.2417
Cell Significance Index: 48.4900
Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: 0.2409
Cell Significance Index: 5.2200
Cell Name: GABAergic interneuron (CL0011005)
Fold Change: 0.1829
Cell Significance Index: 126.5300
Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: 0.1535
Cell Significance Index: 4.2900
Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: 0.1514
Cell Significance Index: 9.5500
Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: 0.1424
Cell Significance Index: 3.8200
Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.1347
Cell Significance Index: 3.8800
Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.1137
Cell Significance Index: 40.7700
Cell Name: cell in vitro (CL0001034)
Fold Change: 0.1090
Cell Significance Index: 59.5300
Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 0.1053
Cell Significance Index: 4.9100
Cell Name: basal cell of urothelium (CL1000486)
Fold Change: 0.0965
Cell Significance Index: 11.8700
Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: 0.0912
Cell Significance Index: 10.7600
Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: 0.0901
Cell Significance Index: 16.2500
Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 0.0826
Cell Significance Index: 11.3500
Cell Name: hair follicular keratinocyte (CL2000092)
Fold Change: 0.0784
Cell Significance Index: 34.6600
Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 0.0737
Cell Significance Index: 3.3400
Cell Name: early pro-B cell (CL0002046)
Fold Change: 0.0699
Cell Significance Index: 4.5100
Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: 0.0606
Cell Significance Index: 1.6500
Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: 0.0521
Cell Significance Index: 1.1100
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.0521
Cell Significance Index: 4.0000
Cell Name: retinal progenitor cell (CL0002672)
Fold Change: 0.0504
Cell Significance Index: 2.8300
Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
Fold Change: 0.0446
Cell Significance Index: 1.5500
Cell Name: fibroblast of dermis (CL0002551)
Fold Change: 0.0401
Cell Significance Index: 0.8400
Cell Name: odontoblast (CL0000060)
Fold Change: 0.0374
Cell Significance Index: 4.8000
Cell Name: Purkinje cell (CL0000121)
Fold Change: 0.0288
Cell Significance Index: 0.6300
Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: 0.0224
Cell Significance Index: 0.6000
Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: 0.0212
Cell Significance Index: 0.6800
Cell Name: lactocyte (CL0002325)
Fold Change: 0.0197
Cell Significance Index: 2.5400
Cell Name: mesenchymal cell (CL0008019)
Fold Change: 0.0191
Cell Significance Index: 0.3200
Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: 0.0154
Cell Significance Index: 0.3200
Cell Name: anterior lens cell (CL0002223)
Fold Change: 0.0139
Cell Significance Index: 25.6900
Cell Name: lens epithelial cell (CL0002224)
Fold Change: 0.0105
Cell Significance Index: 16.1200
Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 0.0070
Cell Significance Index: 13.1600
Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: 0.0069
Cell Significance Index: 0.3300
Cell Name: sebum secreting cell (CL0000317)
Fold Change: -0.0001
Cell Significance Index: -0.0100
Cell Name: secondary lens fiber (CL0002225)
Fold Change: -0.0006
Cell Significance Index: -0.8500
Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
Fold Change: -0.0034
Cell Significance Index: -0.1000
Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: -0.0035
Cell Significance Index: -2.2500
Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: -0.0047
Cell Significance Index: -0.8100
Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: -0.0072
Cell Significance Index: -5.3100
Cell Name: forebrain neuroblast (CL1000042)
Fold Change: -0.0086
Cell Significance Index: -0.5300
Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: -0.0105
Cell Significance Index: -7.9300
Cell Name: ciliary muscle cell (CL1000443)
Fold Change: -0.0106
Cell Significance Index: -4.8300
Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0138
Cell Significance Index: -10.1900
Cell Name: pulmonary interstitial fibroblast (CL0002241)
Fold Change: -0.0178
Cell Significance Index: -0.1100
Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.0193
Cell Significance Index: -2.8000
Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0198
Cell Significance Index: -11.1400
Cell Name: pancreatic PP cell (CL0002275)
Fold Change: -0.0213
Cell Significance Index: -13.2900
Cell Name: abnormal cell (CL0001061)
Fold Change: -0.0263
Cell Significance Index: -2.6900
Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.0322
Cell Significance Index: -9.2700
Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: -0.0325
Cell Significance Index: -2.4200
Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: -0.0350
Cell Significance Index: -1.5500
Cell Name: small intestine goblet cell (CL1000495)
Fold Change: -0.0462
Cell Significance Index: -1.6300
Cell Name: retinal rod cell (CL0000604)
Fold Change: -0.0503
Cell Significance Index: -0.6000
Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.0594
Cell Significance Index: -6.8000
Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.0620
Cell Significance Index: -13.0600
Cell Name: direct pathway medium spiny neuron (CL4023026)
Fold Change: -0.0702
Cell Significance Index: -2.6600
Cell Name: hippocampal pyramidal neuron (CL1001571)
Fold Change: -0.0741
Cell Significance Index: -2.1200
Cell Name: epithelial cell of uterus (CL0002149)
Fold Change: -0.0742
Cell Significance Index: -1.0300
Cell Name: epithelial cell of nephron (CL1000449)
Fold Change: -0.0894
Cell Significance Index: -0.7600
Cell Name: hippocampal granule cell (CL0001033)
Fold Change: -0.0926
Cell Significance Index: -6.2300
Cell Name: placental villous trophoblast (CL2000060)
Fold Change: -0.0962
Cell Significance Index: -2.5700
Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.1009
Cell Significance Index: -10.5100
Cell Name: glycinergic neuron (CL1001509)
Fold Change: -0.1143
Cell Significance Index: -6.0000
Cell Name: skeletal muscle myoblast (CL0000515)
Fold Change: -0.1233
Cell Significance Index: -1.3400
Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: -0.1248
Cell Significance Index: -3.1200
Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: -0.1293
Cell Significance Index: -10.2400
Cell Name: cerebellar granule cell (CL0001031)
Fold Change: -0.1301
Cell Significance Index: -2.2300
Cell Name: intestinal tuft cell (CL0019032)
Fold Change: -0.1321
Cell Significance Index: -8.1000
Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: -0.1338
Cell Significance Index: -1.3900
Cell Name: pro-T cell (CL0000827)
Fold Change: -0.1350
Cell Significance Index: -3.4500
Cell Name: lung endothelial cell (CL1001567)
Fold Change: -0.1632
Cell Significance Index: -8.5000
Cell Name: kidney epithelial cell (CL0002518)
Fold Change: -0.1782
Cell Significance Index: -5.2500
Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
Fold Change: -0.2095
Cell Significance Index: -3.0000
Cell Name: GABAergic amacrine cell (CL4030027)
Fold Change: -0.2294
Cell Significance Index: -2.8500
Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: -0.2350
Cell Significance Index: -6.0400
Cell Name: cortical interneuron (CL0008031)
Fold Change: -0.2406
Cell Significance Index: -5.7700
Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: -0.2422
Cell Significance Index: -7.9300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

**Key Characteristics** ERCC2 is a helicase subunit that belongs to the TFIIH complex, which is a multi-subunit enzyme complex that regulates transcription and DNA repair. The gene encodes a protein that exhibits 5' to 3' DNA helicase activity, which is essential for unwinding DNA double helices. ERCC2 is also involved in the regulation of mitotic cell cycle phase transition and the response to hypoxia and oxidative stress. The gene is highly expressed in cells that are sensitive to DNA damage, such as retinal bipolar neurons and intestinal epithelial cells. **Pathways and Functions** ERCC2 is involved in several key pathways, including: 1. **Nucleotide Excision Repair (NER)**: ERCC2 is a crucial component of the NER pathway, which is responsible for repairing DNA damage caused by UV light and chemical carcinogens. 2. **Transcription**: ERCC2 is also involved in transcriptional regulation, particularly in the regulation of mitotic cell cycle phase transition and the response to hypoxia and oxidative stress. 3. **Apoptotic Process**: ERCC2 has been shown to regulate the apoptotic process in response to DNA damage. 4. **DNA Repair**: ERCC2 is involved in the repair of DNA double-strand breaks and the repair of DNA damage caused by oxidative stress. **Clinical Significance** The ERCC2 gene has been implicated in several diseases, including: 1. **Cancer**: Mutations in the ERCC2 gene have been associated with an increased risk of cancer, particularly skin cancer. 2. **Neurodegenerative Diseases**: ERCC2 has been implicated in the pathogenesis of neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease. 3. **Genetic Disorders**: ERCC2 has been associated with genetic disorders, such as xeroderma pigmentosum, a rare genetic disorder characterized by an increased risk of skin cancer. In conclusion, ERCC2 is a critical gene that plays a pivotal role in the regulation of transcription and DNA repair. Its dysregulation has been implicated in several diseases, highlighting the importance of this gene in maintaining genome stability and preventing disease.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

General transcription and DNA repair factor IIH helicase subunit XPD

Genular Protein ID: 2134985282

Symbol: ERCC2_HUMAN

Name: General transcription and DNA repair factor IIH helicase subunit XPD

UniProtKB Accession Codes:

P18074 Q2TB78 Q2YDY2 Q7KZU6 Q8N721

Database IDs:

Citations:

PubMed ID: 2184031

Title: ERCC2: cDNA cloning and molecular characterization of a human nucleotide excision repair gene with high homology to yeast RAD3.

PubMed ID: 2184031

DOI: 10.1002/j.1460-2075.1990.tb08260.x

PubMed ID: 8786141

Title: Sequence analysis of the ERCC2 gene regions in human, mouse, and hamster reveals three linked genes.

PubMed ID: 8786141

DOI: 10.1006/geno.1996.0303

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 1729695

Title: Correction of Xeroderma pigmentosum complementation group D mutant cell phenotypes by chromosome and gene transfer: involvement of the human ERCC2 DNA repair gene.

PubMed ID: 1729695

DOI: 10.1073/pnas.89.1.261

PubMed ID: 8413672

Title: Human Xeroderma pigmentosum group D gene encodes a DNA helicase.

PubMed ID: 8413672

DOI: 10.1038/365852a0

PubMed ID: 7724549

Title: The 62- and 80-kDa subunits of transcription factor IIH mediate the interaction with Epstein-Barr virus nuclear protein 2.

PubMed ID: 7724549

DOI: 10.1073/pnas.92.8.3259

PubMed ID: 9852112

Title: Immunoaffinity purification and functional characterization of human transcription factor IIH and RNA polymerase II from clonal cell lines that conditionally express epitope-tagged subunits of the multiprotein complexes.

PubMed ID: 9852112

DOI: 10.1074/jbc.273.51.34444

PubMed ID: 9771713

Title: Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH.

PubMed ID: 9771713

DOI: 10.1038/2491

PubMed ID: 10024882

Title: Reconstitution of the transcription factor TFIIH: assignment of functions for the three enzymatic subunits, XPB, XPD, and cdk7.

PubMed ID: 10024882

DOI: 10.1016/s1097-2765(00)80177-x

PubMed ID: 15494306

Title: Selective regulation of vitamin D receptor-responsive genes by TFIIH.

PubMed ID: 15494306

DOI: 10.1016/j.molcel.2004.10.007

PubMed ID: 17466626

Title: Distinct roles for the XPB/p52 and XPD/p44 subcomplexes of TFIIH in damaged DNA opening during nucleotide excision repair.

PubMed ID: 17466626

DOI: 10.1016/j.molcel.2007.03.009

PubMed ID: 16884686

Title: Identification and Herc5-mediated ISGylation of novel target proteins.

PubMed ID: 16884686

DOI: 10.1016/j.bbrc.2006.07.076

PubMed ID: 19106100

Title: MCAF1/AM is involved in Sp1-mediated maintenance of cancer-associated telomerase activity.

PubMed ID: 19106100

DOI: 10.1074/jbc.m807098200

PubMed ID: 20797633

Title: MMXD, a TFIIH-independent XPD-MMS19 protein complex involved in chromosome segregation.

PubMed ID: 20797633

DOI: 10.1016/j.molcel.2010.07.029

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22678361

Title: MMS19 links cytoplasmic iron-sulfur cluster assembly to DNA metabolism.

PubMed ID: 22678361

DOI: 10.1126/science.1219664

PubMed ID: 23352696

Title: DNA quality control by a lesion sensor pocket of the xeroderma pigmentosum group D helicase subunit of TFIIH.

PubMed ID: 23352696

DOI: 10.1016/j.cub.2012.12.032

PubMed ID: 23891004

Title: Human CIA2A-FAM96A and CIA2B-FAM96B integrate iron homeostasis and maturation of different subsets of cytosolic-nuclear iron-sulfur proteins.

PubMed ID: 23891004

DOI: 10.1016/j.cmet.2013.06.015

PubMed ID: 29320706

Title: Human CIA2A-FAM96A and CIA2B-FAM96B Integrate Iron Homeostasis and Maturation of Different Subsets of Cytosolic-Nuclear Iron-Sulfur Proteins.

PubMed ID: 29320706

DOI: 10.1016/j.cmet.2017.12.009

PubMed ID: 23585563

Title: IOP1 protein is an external component of the human cytosolic iron-sulfur cluster assembly (CIA) machinery and functions in the MMS19 protein-dependent CIA pathway.

PubMed ID: 23585563

DOI: 10.1074/jbc.m112.416602

PubMed ID: 27193682

Title: Near-atomic resolution visualization of human transcription promoter opening.

PubMed ID: 27193682

DOI: 10.1038/nature17970

PubMed ID: 31253769

Title: Structural basis of TFIIH activation for nucleotide excision repair.

PubMed ID: 31253769

DOI: 10.1038/s41467-019-10745-5

PubMed ID: 33902107

Title: Structures of mammalian RNA polymerase II pre-initiation complexes.

PubMed ID: 33902107

DOI: 10.1038/s41586-021-03554-8

PubMed ID: 7849702

Title: Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene.

PubMed ID: 7849702

DOI: 10.1093/hmg/3.10.1783

PubMed ID: 7920640

Title: Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy.

PubMed ID: 7920640

DOI: 10.1038/ng0694-189

PubMed ID: 7825573

Title: Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome.

PubMed ID: 7825573

PubMed ID: 7585650

Title: Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D.

PubMed ID: 7585650

PubMed ID: 8571952

Title: Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.

PubMed ID: 8571952

PubMed ID: 9101292

Title: Mutations in the XPD gene leading to Xeroderma pigmentosum symptoms.

PubMed ID: 9101292

DOI: 10.1002/(sici)1098-1004(1997)9:4<322::aid-humu4>3.0.co;2-7

PubMed ID: 9195225

Title: DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient.

PubMed ID: 9195225

DOI: 10.1002/(sici)1098-1004(1997)9:6<519::aid-humu4>3.0.co;2-x

PubMed ID: 9238033

Title: Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.

PubMed ID: 9238033

DOI: 10.1073/pnas.94.16.8658

PubMed ID: 9758621

Title: Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity.

PubMed ID: 9758621

DOI: 10.1086/302063

PubMed ID: 10447254

Title: A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.

PubMed ID: 10447254

DOI: 10.1002/(sici)1098-1004(1999)14:1<9::aid-humu2>3.0.co;2-6

PubMed ID: 11443545

Title: Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.

PubMed ID: 11443545

DOI: 10.1086/321295

PubMed ID: 11319176

Title: Associations between ercc2 polymorphisms and gliomas.

PubMed ID: 11319176

PubMed ID: 11245433

Title: Modulation of nucleotide excision repair capacity by XPD polymorphisms in lung cancer patients.

PubMed ID: 11245433

PubMed ID: 11470747

Title: XPD exon 10 and 23 polymorphisms and DNA repair in human skin in situ.

PubMed ID: 11470747

DOI: 10.1093/carcin/22.8.1185

PubMed ID: 11156600

Title: The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases.

PubMed ID: 11156600

DOI: 10.1101/gad.859501

PubMed ID: 11709541

Title: Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.

PubMed ID: 11709541

DOI: 10.1093/hmg/10.22.2539

PubMed ID: 11242112

Title: A temperature-sensitive disorder in basal transcription and DNA repair in humans.

PubMed ID: 11242112

DOI: 10.1038/85864

Sequence Information:

Length: 760
Mass: 86909
Checksum: 746C0888CDF2E331
Sequence:

MKLNVDGLLV YFPYDYIYPE QFSYMRELKR TLDAKGHGVL EMPSGTGKTV SLLALIMAYQ 
RAYPLEVTKL IYCSRTVPEI EKVIEELRKL LNFYEKQEGE KLPFLGLALS SRKNLCIHPE 
VTPLRFGKDV DGKCHSLTAS YVRAQYQHDT SLPHCRFYEE FDAHGREVPL PAGIYNLDDL 
KALGRRQGWC PYFLARYSIL HANVVVYSYH YLLDPKIADL VSKELARKAV VVFDEAHNID 
NVCIDSMSVN LTRRTLDRCQ GNLETLQKTV LRIKETDEQR LRDEYRRLVE GLREASAARE 
TDAHLANPVL PDEVLQEAVP GSIRTAEHFL GFLRRLLEYV KWRLRVQHVV QESPPAFLSG 
LAQRVCIQRK PLRFCAERLR SLLHTLEITD LADFSPLTLL ANFATLVSTY AKGFTIIIEP 
FDDRTPTIAN PILHFSCMDA SLAIKPVFER FQSVIITSGT LSPLDIYPKI LDFHPVTMAT 
FTMTLARVCL CPMIIGRGND QVAISSKFET REDIAVIRNY GNLLLEMSAV VPDGIVAFFT 
SYQYMESTVA SWYEQGILEN IQRNKLLFIE TQDGAETSVA LEKYQEACEN GRGAILLSVA 
RGKVSEGIDF VHHYGRAVIM FGVPYVYTQS RILKARLEYL RDQFQIREND FLTFDAMRHA 
AQCVGRAIRG KTDYGLMVFA DKRFARGDKR GKLPRWIQEH LTDANLNLTV DEGVQVAKYF 
LRQMAQPFHR EDQLGLSLLS LEQLESEETL KRIEQIAQQL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: ERCC2

Associated with

Cells (max top 100)

Other Information

ERCC2: cDNA cloning and molecular characterization of a human nucleotide excision repair gene with high homology to yeast RAD3. PubMed ID: 2184031

Sequence analysis of the ERCC2 gene regions in human, mouse, and hamster reveals three linked genes. PubMed ID: 8786141

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Correction of Xeroderma pigmentosum complementation group D mutant cell phenotypes by chromosome and gene transfer: involvement of the human ERCC2 DNA repair gene. PubMed ID: 1729695

Human Xeroderma pigmentosum group D gene encodes a DNA helicase. PubMed ID: 8413672

The 62- and 80-kDa subunits of transcription factor IIH mediate the interaction with Epstein-Barr virus nuclear protein 2. PubMed ID: 7724549

Immunoaffinity purification and functional characterization of human transcription factor IIH and RNA polymerase II from clonal cell lines that conditionally express epitope-tagged subunits of the multiprotein complexes. PubMed ID: 9852112

Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH. PubMed ID: 9771713

Reconstitution of the transcription factor TFIIH: assignment of functions for the three enzymatic subunits, XPB, XPD, and cdk7. PubMed ID: 10024882

Selective regulation of vitamin D receptor-responsive genes by TFIIH. PubMed ID: 15494306

Distinct roles for the XPB/p52 and XPD/p44 subcomplexes of TFIIH in damaged DNA opening during nucleotide excision repair. PubMed ID: 17466626

Identification and Herc5-mediated ISGylation of novel target proteins. PubMed ID: 16884686

MCAF1/AM is involved in Sp1-mediated maintenance of cancer-associated telomerase activity. PubMed ID: 19106100

MMXD, a TFIIH-independent XPD-MMS19 protein complex involved in chromosome segregation. PubMed ID: 20797633

Initial characterization of the human central proteome. PubMed ID: 21269460

MMS19 links cytoplasmic iron-sulfur cluster assembly to DNA metabolism. PubMed ID: 22678361

DNA quality control by a lesion sensor pocket of the xeroderma pigmentosum group D helicase subunit of TFIIH. PubMed ID: 23352696

Human CIA2A-FAM96A and CIA2B-FAM96B integrate iron homeostasis and maturation of different subsets of cytosolic-nuclear iron-sulfur proteins. PubMed ID: 23891004

Human CIA2A-FAM96A and CIA2B-FAM96B Integrate Iron Homeostasis and Maturation of Different Subsets of Cytosolic-Nuclear Iron-Sulfur Proteins. PubMed ID: 29320706

IOP1 protein is an external component of the human cytosolic iron-sulfur cluster assembly (CIA) machinery and functions in the MMS19 protein-dependent CIA pathway. PubMed ID: 23585563

Near-atomic resolution visualization of human transcription promoter opening. PubMed ID: 27193682

Structural basis of TFIIH activation for nucleotide excision repair. PubMed ID: 31253769

Structures of mammalian RNA polymerase II pre-initiation complexes. PubMed ID: 33902107

Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene. PubMed ID: 7849702

Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy. PubMed ID: 7920640

Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome. PubMed ID: 7825573

Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D. PubMed ID: 7585650

Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy. PubMed ID: 8571952

Mutations in the XPD gene leading to Xeroderma pigmentosum symptoms. PubMed ID: 9101292

DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient. PubMed ID: 9195225

Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. PubMed ID: 9238033

Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity. PubMed ID: 9758621

A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. PubMed ID: 10447254

Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. PubMed ID: 11443545

Associations between ercc2 polymorphisms and gliomas. PubMed ID: 11319176

Modulation of nucleotide excision repair capacity by XPD polymorphisms in lung cancer patients. PubMed ID: 11245433

XPD exon 10 and 23 polymorphisms and DNA repair in human skin in situ. PubMed ID: 11470747

The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases. PubMed ID: 11156600

Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene. PubMed ID: 11709541

A temperature-sensitive disorder in basal transcription and DNA repair in humans. PubMed ID: 11242112