ERCC2

ERCC2 或 XPD是一种涉及转录偶联核苷酸切除修复的蛋白质。

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编号	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	小鼠
Entrez	2068	13871
Ensembl	ENSG00000104884	ENSMUSG00000030400
UniProt	P18074	O08811
mRNA序列	NM_000400	NM_007949
蛋白序列	NP_000391	NP_031975
基因位置	Chr 19: 45.85 – 45.87 Mb	Chr 7: 19.38 – 19.4 Mb
PubMed查询	[1]	[2]

延伸阅读

• 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.  引文格式1维护：显式使用等标签 (link)
• 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. 

外部链接

• GeneReviews/NIH/NCBI/UW entry on Xeroderma Pigmentosum（页面存档备份，存于互联网档案馆）
• 医学主题词表（MeSH）：ERCC2+Protein