Details for: ERCC2
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
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
PubMed ID: 8786141
Title: Sequence analysis of the ERCC2 gene regions in human, mouse, and hamster reveals three linked genes.
PubMed ID: 8786141
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
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
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
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
PubMed ID: 15494306
Title: Selective regulation of vitamin D receptor-responsive genes by TFIIH.
PubMed ID: 15494306
PubMed ID: 16884686
Title: Identification and Herc5-mediated ISGylation of novel target proteins.
PubMed ID: 16884686
PubMed ID: 19106100
Title: MCAF1/AM is involved in Sp1-mediated maintenance of cancer-associated telomerase activity.
PubMed ID: 19106100
PubMed ID: 20797633
Title: MMXD, a TFIIH-independent XPD-MMS19 protein complex involved in chromosome segregation.
PubMed ID: 20797633
PubMed ID: 21269460
Title: Initial characterization of the human central proteome.
PubMed ID: 21269460
PubMed ID: 22678361
Title: MMS19 links cytoplasmic iron-sulfur cluster assembly to DNA metabolism.
PubMed ID: 22678361
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
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
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
PubMed ID: 7849702
Title: Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene.
PubMed ID: 7849702
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
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
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
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.