Gene table of ERCC2 : ERCC excision repair 2, TFIIH core complex helicase subunit

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ERCC2	OMIM link	Number of associated genes	genes
PS601675	TRICHOTHIODYSTROPHY	ClinVar, OMIM, HUMSAVAR	link to OMIM	5	ERCC3, MPLKIP, RNF113A, GTF2H5, ERCC2
278730	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	ERCC2
PS214150	CEREBROOCULOFACIOSKELETAL SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	4	ERCC1, ERCC5, ERCC6, ERCC2

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Annotation of the gene ERCC2

Associated genes in ENSEMBL

ENSG00000104884

Associated proteins - SwissProt Accession ID

P18074

Associated PDB IDs

Cytogenetic Band

19q13.32

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is a TF of the genes:

It is regulated by the following TF:

HIF1A

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Basal transcription factors	hsa03022	7.31
Nucleotide excision repair	hsa03420	7.15

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Global Genomic NER (GG-NER)	R-HSA-109970	7.89
Dual incision reaction in TC-NER	R-HSA-110304	8.12
Formation of transcription-coupled NER (TC-NER) repair complex	R-HSA-110302	8.12
Transcription-coupled NER (TC-NER)	R-HSA-73937	7.49
Formation of incision complex in GG-NER	R-HSA-73935	8.59
RNA Polymerase I Promoter Escape	R-HSA-73772	8.08
Metabolism	R-HSA-1430728	2.34
RNA Polymerase I Chain Elongation	R-HSA-73777	7.18
RNA Polymerase II Promoter Escape	R-HSA-73776	7.52
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening	R-HSA-73779	7.52
RNA Polymerase I Promoter Clearance	R-HSA-73854	6.75
Disease	R-HSA-1643685	3.33
RNA Polymerase II Pre-transcription Events	R-HSA-674695	7.01
Transcription of the HIV genome	R-HSA-167172	6.96
Negative epigenetic regulation of rRNA expression	R-HSA-5250941	6.75
RNA Polymerase II Transcription Initiation And Promoter Clearance	R-HSA-76042	7.52
NoRC negatively regulates rRNA expression	R-HSA-427413	6.81
Formation of the HIV-1 Early Elongation Complex	R-HSA-167158	7.94
HIV Infection	R-HSA-162906	5.22
Late Phase of HIV Life Cycle	R-HSA-162599	6.02
Nucleotide Excision Repair	R-HSA-73885	7.34
RNA Polymerase II Transcription	R-HSA-73857	6.25
Infectious disease	R-HSA-5663205	4.47
Epigenetic regulation of gene expression	R-HSA-212165	6.46
mRNA Capping	R-HSA-72086	8.12
RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription	R-HSA-504046	6.16
RNA Polymerase II Transcription Initiation	R-HSA-75953	7.52
RNA Pol II CTD phosphorylation and interaction with CE	R-HSA-77075	8.23
HIV Transcription Elongation	R-HSA-167169	7.59
RNA Polymerase I Transcription	R-HSA-73864	6.72
HIV Transcription Initiation	R-HSA-167161	7.52
RNA Pol II CTD phosphorylation and interaction with CE	R-HSA-167160	8.23
RNA Polymerase I Transcription Termination	R-HSA-73863	8.03
RNA Polymerase II HIV Promoter Escape	R-HSA-167162	7.52
Formation of RNA Pol II elongation complex	R-HSA-112382	7.56
Formation of HIV elongation complex in the absence of HIV Tat	R-HSA-167152	7.56
Cytosolic iron-sulfur cluster assembly	R-HSA-2564830	9.28
Formation of HIV-1 elongation complex containing HIV-1 Tat	R-HSA-167200	7.59
Dual incision reaction in GG-NER	R-HSA-73941	8.59
Formation of the Early Elongation Complex	R-HSA-113418	7.94
Gene Expression	R-HSA-74160	2.72
DNA Repair	R-HSA-73894	5.8
RNA Polymerase I Transcription Initiation	R-HSA-73762	7.43
Tat-mediated elongation of the HIV-1 transcript	R-HSA-167246	7.59
HIV Life Cycle	R-HSA-162587	5.89
RNA Polymerase II Transcription Elongation	R-HSA-75955	7.56

Associated GO terms for Molecular function

GO term	GO ID	GO IC
protein C-terminus binding	GO:0008022	4.5
ATPase activity	GO:0016887	3.65
ATP-dependent helicase activity	GO:0008026	5.12
purine ribonucleoside triphosphate binding	GO:0035639	2.22
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
DNA binding	GO:0003677	1.92
DNA helicase activity	GO:0003678	5.73
RNA polymerase II carboxy-terminal domain kinase activity	GO:0008353	6.97
nucleotide binding	GO:0000166	1.96
heterocyclic compound binding	GO:1901363	1.06
purine nucleoside binding	GO:0001883	2.22
nucleoside binding	GO:0001882	2.21
cation binding	GO:0043169	1.4
metal cluster binding	GO:0051540	5.55
pyrophosphatase activity	GO:0016462	3.04
ion binding	GO:0043167	1.36
protein serine/threonine kinase activity	GO:0004674	3.64
transferase activity	GO:0016740	1.95
nucleoside phosphate binding	GO:1901265	1.96
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
protein kinase activity	GO:0004672	3.27
metal ion binding	GO:0046872	1.41
ATP binding	GO:0005524	2.43
hydrolase activity	GO:0016787	1.9
ATP-dependent DNA helicase activity	GO:0004003	6.13
kinase activity	GO:0016301	2.93
nucleoside-triphosphatase activity	GO:0017111	3.09
helicase activity	GO:0004386	4.69
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
phosphotransferase activity, alcohol group as acceptor	GO:0016773	3.08
DNA-dependent ATPase activity	GO:0008094	5.31
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	3.03
4 iron, 4 sulfur cluster binding	GO:0051539	6.0
protein N-terminus binding	GO:0047485	5.11
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
iron-sulfur cluster binding	GO:0051536	5.55
ATPase activity, coupled	GO:0042623	3.97
hydrolase activity, acting on acid anhydrides	GO:0016817	3.03
purine NTP-dependent helicase activity	GO:0070035	5.12
adenyl ribonucleotide binding	GO:0032559	2.41
protein binding	GO:0005515	0.46
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
purine ribonucleotide binding	GO:0032555	2.2
5'-3' DNA helicase activity	GO:0043139	7.66
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19