ERCC2

Excision repair cross-complementing rodent repair deficiency, complementation group 2
Excision repair cross-complementing rodent repair deficiency, complementation group 2
标识
代号	ERCC2; COFS2; EM9; TTD; XPD
扩展标识	遗传学：126340 鼠基因：95413 同源基因：344 GeneCards: ERCC2 Gene
EC編號	3.6.4.12
基因本体论描述
分子功能	· DNA binding; · ATP-dependent DNA helicase activity; · protein kinase activity; · protein binding; · ATP binding; · protein C-terminus binding; · DNA-dependent ATPase activity; · RNA polymerase II carboxy-terminal domain kinase activity; · 5'-3' DNA helicase activity; · metal ion binding; · protein N-terminus binding; · 4 iron, 4 sulfur cluster binding;
细胞成分	· SSL2-core TFIIH complex; · nucleus; · nucleoplasm; · holo TFIIH complex; · cytoplasm; · spindle; · cyclin-dependent protein kinase activating kinase holoenzyme complex; · MMXD complex;
生物过程	· cell cycle checkpoint; · nucleotide-excision repair, DNA damage removal; · response to hypoxia; · in utero embryonic development; · DNA repair; · transcription-coupled nucleotide-excision repair; · nucleotide-excision repair; · transcription from RNA polymerase I promoter; · transcription initiation from RNA polymerase I promoter; · transcription elongation from RNA polymerase I promoter; · termination of RNA polymerase I transcription; · transcription from RNA polymerase II promoter; · transcription initiation from RNA polymerase II promoter; · transcription elongation from RNA polymerase II promoter; · 7-methylguanosine mRNA capping; · protein phosphorylation; · apoptotic process; · induction of apoptosis; · response to oxidative stress; · chromosome segregation; · aging; · cell proliferation; · UV protection; · post-embryonic development; · gene expression; · viral reproduction; · virus-host interaction; · spinal cord development; · viral reproductive process; · extracellular matrix organization; · bone mineralization; · central nervous system myelin formation; · nucleotide-excision repair, DNA incision; · multicellular organism growth; · hair cell differentiation; · embryonic cleavage; · negative regulation of apoptotic process; · erythrocyte maturation; · positive regulation of DNA binding; · skin development; · small molecule metabolic process; · positive regulation of transcription, DNA-dependent; · positive regulation of transcription from RNA polymerase II promoter; · hair follicle maturation; · positive regulation of viral transcription; · hematopoietic stem cell differentiation;
	Sources: Amigo / QuickGO
RNA表达模式
	更多表达数据
直系同源体
物种	人类
Entrez	2068
Ensembl	ENSG00000104884
UniProt	P18074
mRNA序列	NM_000400
蛋白序列	NP_000391
基因位置	Chr 19:; 45.85 – 45.87 Mb
PubMed查询	[1]
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ERCC2 或 XPD是一种涉及转录偶联核苷酸切除修复的蛋白质。

参考文献

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Broughton BC, Thompson AF, Harcourt SA; et al. 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.. Am. J. Hum. Genet. 1995, 56 (1): 167–74. PMC 1801309 . PMID 7825573.
Jeang KT. Tat, Tat-associated kinase, and transcription.. J. Biomed. Sci. 1998, 5 (1): 24–7. PMID 9570510. doi:10.1007/BF02253352.
Yankulov K, Bentley D. Transcriptional control: Tat cofactors and transcriptional elongation.. Curr. Biol. 1998, 8 (13): R447–9. PMID 9651670. doi:10.1016/S0960-9822(98)70289-1.
Cleaver JE, Thompson LH, Richardson AS, States JC. A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.. Hum. Mutat. 1999, 14 (1): 9–22. PMID 10447254. doi:10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6.
Lehmann AR. The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases.. Genes Dev. 2001, 15 (1): 15–23. PMID 11156600. doi:10.1101/gad.859501.
Benhamou S, Sarasin A. ERCC2/XPD gene polymorphisms and cancer risk.. Mutagenesis. 2003, 17 (6): 463–9. PMID 12435843. doi:10.1093/mutage/17.6.463.
Clarkson SG, Wood RD. Polymorphisms in the human XPD (ERCC2) gene, DNA repair capacity and cancer susceptibility: an appraisal.. DNA Repair (Amst.). 2006, 4 (10): 1068–74. PMID 16054878. doi:10.1016/j.dnarep.2005.07.001.

ERCC2

参考文献

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