Details for: ERCC2

Gene ID: 2068

Symbol: ERCC2

Ensembl ID: ENSG00000104884

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

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 3.51
    Marker Score: 29714
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71778
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48002
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30404
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.95
    Marker Score: 490
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2407
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.94
    Marker Score: 445
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.93
    Marker Score: 743
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2725
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.88
    Marker Score: 5039
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5268
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.87
    Marker Score: 312
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.79
    Marker Score: 12417
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.78
    Marker Score: 193
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1265
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.77
    Marker Score: 1111
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.74
    Marker Score: 1397
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.73
    Marker Score: 380
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.73
    Marker Score: 293.5
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.72
    Marker Score: 549.5
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.71
    Marker Score: 649
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.69
    Marker Score: 746
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.67
    Marker Score: 2824
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 171
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.64
    Marker Score: 6633
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.63
    Marker Score: 785.5
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.59
    Marker Score: 1380
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.57
    Marker Score: 610
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 438
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.55
    Marker Score: 1494
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.52
    Marker Score: 479
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.51
    Marker Score: 794
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.51
    Marker Score: 4357
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.49
    Marker Score: 326
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.49
    Marker Score: 1990
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.48
    Marker Score: 267
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.48
    Marker Score: 137
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.47
    Marker Score: 4405
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.47
    Marker Score: 565
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.47
    Marker Score: 317
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.46
    Marker Score: 149
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.46
    Marker Score: 951
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.45
    Marker Score: 4321
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.44
    Marker Score: 4450
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.44
    Marker Score: 27149
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.44
    Marker Score: 462
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.43
    Marker Score: 115
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.43
    Marker Score: 270
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.42
    Marker Score: 722
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.42
    Marker Score: 132
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.42
    Marker Score: 281
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.42
    Marker Score: 462
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.41
    Marker Score: 843
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.41
    Marker Score: 240
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.4
    Marker Score: 536
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.4
    Marker Score: 298
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.4
    Marker Score: 191
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.39
    Marker Score: 235
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 0.39
    Marker Score: 125
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.38
    Marker Score: 202
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.38
    Marker Score: 133
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.38
    Marker Score: 2258
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.38
    Marker Score: 159
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.37
    Marker Score: 7868
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.36
    Marker Score: 5423
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.36
    Marker Score: 165
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.36
    Marker Score: 1419
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.36
    Marker Score: 13528
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.35
    Marker Score: 111
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.35
    Marker Score: 167
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.35
    Marker Score: 351
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.34
    Marker Score: 464
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.34
    Marker Score: 796
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.33
    Marker Score: 86
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.33
    Marker Score: 2152
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.33
    Marker Score: 12051
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.33
    Marker Score: 283
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.33
    Marker Score: 98
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.32
    Marker Score: 336
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.32
    Marker Score: 417
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.32
    Marker Score: 2059
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.32
    Marker Score: 75
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.32
    Marker Score: 158
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.32
    Marker Score: 6354
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.32
    Marker Score: 159
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.32
    Marker Score: 342
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: 0.32
    Marker Score: 109
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.31
    Marker Score: 195
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.31
    Marker Score: 328
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.31
    Marker Score: 127
  • Cell Name: lung microvascular endothelial cell (CL2000016)
    Fold Change: 0.31
    Marker Score: 66
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.31
    Marker Score: 1193
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: 0.31
    Marker Score: 309
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.31
    Marker Score: 274
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.31
    Marker Score: 1136
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.31
    Marker Score: 295
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.3
    Marker Score: 208
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.3
    Marker Score: 710
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.3
    Marker Score: 125
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.3
    Marker Score: 2284

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Other Information

## Summary ERCC2 is a highly conserved helicase protein that plays a critical role in the repair of double-stranded DNA breaks in eukaryotic cells. It is a key component of the TFIIH core complex, a large helicase assembly that is responsible for repairing DNA double-strand breaks (DSBs) in the genome. ERCC2 is highly expressed in various cell types, including retinal bipolar neurons, cerebral cortex GABAergic interneurons, and intestinal crypt stem cells. ## Key characteristics * ERCC2 is a heterodimeric protein composed of two identical subunits, ERCC2A and ERCC2B. * It is a core component of the TFIIH helicase complex, which also includes ERCC1, ERCC3, and BRCA1. * ERCC2 is responsible for the initial recognition and binding to DNA breaks, and it is required for the subsequent recruitment of other TFIIH complex proteins. * It has a conserved catalytic domain that is responsible for the hydrolysis of DNA strands. * ERCC2 is a highly regulated gene, and its expression is often upregulated in response to DNA damage. ## Pathways and functions * ERCC2 is involved in a variety of cellular processes, including DNA repair, epigenetic regulation, and transcription. * In DNA repair, ERCC2 is responsible for repairing a wide range of DNA damage types, including single-strand breaks, double-strand breaks, and insertions and deletions. * It is also involved in the regulation of gene expression through epigenetic mechanisms, such as DNA methylation. * ERCC2 is also involved in the negative regulation of gene expression through the recruitment of histone deacetylases. ## Clinical significance Mutations in ERCC2 have been linked to a number of human diseases, including cancer, neurodegenerative disorders, and metabolic diseases. These mutations can lead to the accumulation of DNA damage in cells, which can result in genomic instability and cancer. ERCC2 is a promising target for cancer therapy, as it is frequently mutated in cancer cells. Inhibition of ERCC2 has been shown to be effective in inhibiting cancer cell growth and proliferation.

Genular Protein ID: 2134985282

Symbol: ERCC2_HUMAN

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

UniProtKB Accession Codes:

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: 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: 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: 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. For the full schema, download it here.