ERCC2

ERCC excision repair 2, TFIIH core complex helicase subunit | EM9, MAG, MGC102762, MGC126218, MGC126219, XPD

The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

Biological processes 47 terms

5'-3' DNA helicase activity (GO:0043139)5'-3' DNA helicase activity (GO:0043139)5'-3' DNA helicase activity (GO:0043139)ATP binding (GO:0005524)ATP hydrolysis activity (GO:0016887)CAK-ERCC2 complex (GO:0070516)DNA binding (GO:0003677)DNA helicase activity (GO:0003678)DNA helicase activity (GO:0003678)DNA-templated transcription (GO:0006351)MMXD complex (GO:0071817)apoptotic process (GO:0006915)chromosome segregation (GO:0007059)cytoplasm (GO:0005737)damaged DNA binding (GO:0003684)hair cell differentiation (GO:0035315)hair cell differentiation (GO:0035315)helicase activity (GO:0004386)hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818)nucleic acid binding (GO:0003676)nucleoplasm (GO:0005654)nucleoplasm (GO:0005654)nucleotide-excision repair (GO:0006289)nucleotide-excision repair (GO:0006289)nucleotide-excision repair (GO:0006289)nucleus (GO:0005634)nucleus (GO:0005634)nucleus (GO:0005634)positive regulation of mitotic recombination (GO:0045951)protein binding (GO:0005515)protein-macromolecule adaptor activity (GO:0030674)regulation of mitotic cell cycle phase transition (GO:1901990)regulation of transcription by RNA polymerase II (GO:0006357)response to oxidative stress (GO:0006979)spindle (GO:0005819)spindle (GO:0005819)transcription by RNA polymerase II (GO:0006366)transcription by RNA polymerase II (GO:0006366)transcription by RNA polymerase II (GO:0006366)transcription factor TFIID complex (GO:0005669)transcription factor TFIIH core complex (GO:0000439)transcription factor TFIIH holo complex (GO:0005675)transcription factor TFIIH holo complex (GO:0005675)transcription initiation at RNA polymerase II promoter (GO:0006367)transcription initiation at RNA polymerase II promoter (GO:0006367)transcription-coupled nucleotide-excision repair (GO:0006283)transcription-coupled nucleotide-excision repair (GO:0006283)

Expression (TPM)

TFs regulating ERCC2 0 TFs

Transcription factors with Perturb-seq knockdown data for ERCC2. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = ERCC2 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.

TF	Mean coef	Binding	Outlier	TF→Gene link

Rows:

Elements linked to ERCC2

Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of ERCC2, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.

Element	Dist. to TSS	Link type	TFs
chr19:45,075,125–45,076,814	294.0 kb	Distal (>10kb) Multiome	710
chr19:45,078,897–45,080,647	290.4 kb	Distal (>10kb) Multiome	1012
chr19:45,091,042–45,093,574	277.5 kb	Distal (>10kb) Multiome	959
chr19:45,177,803–45,179,711	192.1 kb	Distal (>10kb) Multiome	899
chr19:45,234,200–45,234,822	136.0 kb	Distal (>10kb) Multiome	105
chr19:45,250,821–45,251,491	119.3 kb	Distal (>10kb) Multiome	397
chr19:45,340,431–45,341,201	29.8 kb	Distal (>10kb) Multiome	363
chr19:45,370,064–45,371,122	100 bp	At TSS Multiome	592
chr19:45,402,280–45,402,828	32.0 kb	Distal (>10kb) Multiome	332
chr19:45,403,781–45,404,684	33.5 kb	Distal (>10kb) Multiome	494
chr19:45,404,818–45,406,887	35.9 kb	Distal (>10kb) Multiome	964
chr19:45,423,326–45,424,545	53.2 kb	Distal (>10kb) Multiome	996
chr19:45,439,539–45,440,189	69.3 kb	Distal (>10kb) Multiome	718
chr19:45,443,052–45,444,768	72.9 kb	Distal (>10kb) Multiome	857
chr19:45,450,695–45,451,265	80.3 kb	Distal (>10kb) Multiome	515
chr19:45,455,706–45,456,201	85.4 kb	Distal (>10kb) Multiome	776
chr19:45,467,169–45,468,696	97.2 kb	Distal (>10kb) Multiome	686
chr19:45,468,843–45,470,312	98.9 kb	Distal (>10kb) Multiome	769
chr19:45,478,416–45,479,276	108.2 kb	Distal (>10kb) Multiome	809
chr19:45,485,144–45,486,070	115.0 kb	Distal (>10kb) Multiome	659
chr19:45,492,647–45,493,344	122.3 kb	Distal (>10kb) Multiome	522
chr19:45,496,247–45,497,677	126.5 kb	Distal (>10kb) Multiome	742
chr19:45,498,270–45,499,916	129.0 kb	Distal (>10kb) Multiome	464
chr19:45,506,243–45,507,963	136.2 kb	Distal (>10kb) Multiome	969
chr19:45,508,291–45,509,751	138.1 kb	Distal (>10kb) Multiome	670
chr19:45,528,315–45,529,353	158.3 kb	Distal (>10kb) Multiome	425
chr19:45,584,026–45,585,251	214.1 kb	Distal (>10kb) Multiome	907
chr19:45,607,096–45,607,695	236.9 kb	Distal (>10kb) Multiome	526
chr19:45,615,654–45,616,944	245.6 kb	Distal (>10kb) Multiome	480
chr19:45,632,406–45,633,148	262.2 kb	Distal (>10kb) Multiome	358
chr19:45,638,965–45,639,696	268.8 kb	Distal (>10kb) Multiome	477
chr19:45,640,813–45,642,557	271.7 kb	Distal (>10kb) Multiome	865
chr19:45,643,187–45,644,012	273.0 kb	Distal (>10kb) Multiome	542
chr19:45,645,389–45,646,343	275.4 kb	Distal (>10kb) Multiome	566
chr19:45,667,856–45,668,417	297.5 kb	Distal (>10kb) Multiome	386
chr19:45,668,914–45,669,719	298.8 kb	Distal (>10kb) Multiome	611

Genome Browser

Genomic view of the ERCC2 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.