======= ERCC2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: ERCC2
  * **<color #00a2e8>Official Name</color>**: ERCC excision repair 2, TFIIH core complex helicase subunit
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2068|2068]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P18074|P18074]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=ERCC2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ERCC2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/126340|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  ATP-dependent 5'-3' DNA helicase, component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. The ATP-dependent helicase activity of XPD/ERCC2 is required for DNA opening. In transcription, TFIIH has an essential role in transcription initiation. When the pre- initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription. XPD/ERCC2 acts by forming a bridge between CAK and the core-TFIIH complex. Involved in the regulation of vitamin-D receptor activity. As part of the mitotic spindle-associated MMXD complex it plays a role in chromosome segregation. Might have a role in aging process and could play a causative role in the generation of skin cancers. {ECO:0000269|PubMed:10024882, ECO:0000269|PubMed:15494306, ECO:0000269|PubMed:20797633, ECO:0000269|PubMed:8413672}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|DUF1227|
|DEAD 2|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|positive regulation of mitotic recombination|
|CAK-ERCC2 complex|
|central nervous system myelin formation|
|MMXD complex|
|5-3 DNA helicase activity|
|regulation of mitotic recombination|
|hair follicle maturation|
|embryonic cleavage|
|transcription factor TFIIH core complex|
|transcription factor TFIIH holo complex|
|hematopoietic stem cell differentiation|
|UV protection|
|erythrocyte maturation|
|RNA polymerase II CTD heptapeptide repeat kinase activity|
|myelin assembly|
|axon ensheathment in central nervous system|
|central nervous system myelination|
|nucleotide-excision repair, preincision complex stabilization|
|nucleotide-excision repair, DNA incision, 3-to lesion|
|nucleotide-excision repair, DNA duplex unwinding|
|global genome nucleotide-excision repair|
|transcription elongation from RNA polymerase I promoter|
|nucleotide-excision repair, preincision complex assembly|
|termination of RNA polymerase I transcription|
|erythrocyte development|
|7-methylguanosine mRNA capping|
|hair cell differentiation|
|7-methylguanosine RNA capping|
|RNA capping|
|transcription initiation from RNA polymerase I promoter|
|nucleotide-excision repair, DNA incision, 5-to lesion|
|transcription factor TFIID complex|
|transcription by RNA polymerase I|
|positive regulation of DNA recombination|
|nucleotide-excision repair, DNA incision|
|4 iron, 4 sulfur cluster binding|
|oligodendrocyte development|
|DNA-dependent ATPase activity|
|bone mineralization|
|damaged DNA binding|
|positive regulation of DNA binding|
|myeloid cell development|
|DNA helicase activity|
|oligodendrocyte differentiation|
|hair follicle development|
|DNA-templated transcription, termination|
|skin epidermis development|
|transcription-coupled nucleotide-excision repair|
|molting cycle process|
|transcription elongation from RNA polymerase II promoter|
|hair cycle process|
|protein binding, bridging|
|erythrocyte differentiation|
|multicellular organism growth|
|hematopoietic progenitor cell differentiation|
|erythrocyte homeostasis|
|post-embryonic development|
|DNA-templated transcription, elongation|
|molting cycle|
|hair cycle|
|biomineralization|
|biomineral tissue development|
|regulation of DNA recombination|
|cellular component assembly involved in morphogenesis|
|myelination|
|protein N-terminus binding|
|glial cell development|
|myeloid cell homeostasis|
|spinal cord development|
|axon ensheathment|
|ensheathment of neurons|
|DNA duplex unwinding|
|nucleotide-excision repair|
|DNA geometric change|
|spindle|
|regulation of DNA binding|
|anatomical structure maturation|
|response to UV|
|cell maturation|
|stem cell differentiation|
|glial cell differentiation|
|transcription initiation from RNA polymerase II promoter|
|positive regulation of binding|
|protein C-terminus binding|
|positive regulation of DNA metabolic process|
|homeostasis of number of cells|
|protein-DNA complex assembly|
|gliogenesis|
|DNA-templated transcription, initiation|
|myeloid cell differentiation|
|protein kinase activity|
|developmental maturation|
|protein-DNA complex subunit organization|
|positive regulation of protein complex assembly|
|ossification|
|chromosome segregation|
|aging|
|DNA conformation change|
|nucleic acid phosphodiester bond hydrolysis|
|response to light stimulus|
|epidermal cell differentiation|
|extracellular matrix organization|
|response to hypoxia|
|regulation of DNA metabolic process|
|response to decreased oxygen levels|
|in utero embryonic development|
|regulation of binding|
|response to oxygen levels|
|skin development|
|response to oxidative stress|
|extracellular structure organization|
|developmental growth|
|growth|
|regulation of mitotic cell cycle phase transition|
|epidermis development|
|embryonic organ development|
|response to radiation|
|regulation of cell cycle phase transition|
|regulation of protein complex assembly|
|mRNA processing|
|transcription by RNA polymerase II|
|cell division|
|DNA repair|
|positive regulation of cellular component biogenesis|
|cell population proliferation|
|hemopoiesis|
|hematopoietic or lymphoid organ development|
|regulation of mitotic cell cycle|
|chordate embryonic development|
|transcription, DNA-templated|
|nucleic acid-templated transcription|
|immune system development|
|embryo development ending in birth or egg hatching|
|RNA biosynthetic process|
|epithelial cell differentiation|
|mRNA metabolic process|
|viral process|
|DNA metabolic process|
|regulation of cell cycle process|
|cellular response to DNA damage stimulus|
|symbiotic process|
|interspecies interaction between organisms|
|cellular component morphogenesis|
|cellular protein-containing complex assembly|
|RNA processing|
|anatomical structure formation involved in morphogenesis|
|apoptotic process|
|regulation of cellular component biogenesis|
|protein phosphorylation|
|embryo development|
|central nervous system development|
|neuron differentiation|
|programmed cell death|
|chromosome organization|
|cell death|
|nucleobase-containing compound biosynthetic process|
|epithelium development|
|response to abiotic stimulus|
|heterocycle biosynthetic process|
|aromatic compound biosynthetic process|
|regulation of cell cycle|
|positive regulation of cellular component organization|
|positive regulation of transcription by RNA polymerase II|
|phosphorylation|
|organic cyclic compound biosynthetic process|
|ATP binding|
|generation of neurons|
|positive regulation of transcription, DNA-templated|
|protein-containing complex assembly|
|neurogenesis|
|cellular nitrogen compound biosynthetic process|
|positive regulation of nucleic acid-templated transcription|
|positive regulation of RNA biosynthetic process|
|homeostatic process|
|cell development|
|RNA metabolic process|
|cellular response to stress|
|cellular macromolecule biosynthetic process|
|positive regulation of RNA metabolic process|
|tissue development|
|macromolecule biosynthetic process|
|positive regulation of molecular function|
|protein-containing complex subunit organization|
|positive regulation of nucleobase-containing compound metabolic process|
|positive regulation of macromolecule biosynthetic process|
|positive regulation of cellular biosynthetic process|
|positive regulation of gene expression|
|gene expression|
|positive regulation of biosynthetic process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp308|Rapamycin 2μM plus FK-506 5μM R07 exp308]]|-2.96|
|[[:results:exp239|PFI-2 4μM R05 exp239]]|-2.95|
|[[:results:exp41|BI-2536 0.001μM R01 exp41]]|-2.63|
|[[:results:exp61|YM155 0.0002μM R01 exp61]]|-2.53|
|[[:results:exp49|NFN1 0.1μM R01 exp49]]|-2.43|
|[[:results:exp34|Rotenone 20μM R00 exp34]]|-2.39|
|[[:results:exp40|2-Methoxyestradiol 0.2μM R01 exp40]]|-2.38|
|[[:results:exp246|UM0011500 10μM R05 exp246]]|-2.37|
|[[:results:exp71|KU-0063794 3.8μM R02 exp71]]|-2.35|
|[[:results:exp225|Celastrol 0.12μM R05 exp225]]|-2.34|
|[[:results:exp47|Lapatinib 5μM R01 exp47]]|-2.29|
|[[:results:exp52|Ribavirin 10μM R01 exp52]]|-2.27|
|[[:results:exp416|Tubacin 1.6μM R07 exp416]]|-2.24|
|[[:results:exp155|UNC1999 2μM R03 exp155]]|-2.22|
|[[:results:exp421|VHL-ligand-1 20μM R07 exp421]]|-2.18|
|[[:results:exp332|Adefovir 20μM R07 exp332]]|-2.09|
|[[:results:exp270|Campthothecin 0.001μM R06 exp270]]|-2.08|
|[[:results:exp220|BAY-598 4μM R05 exp220]]|-2.07|
|[[:results:exp223|Cabazitaxel 0.001μM R05 exp223]]|-2.03|
|[[:results:exp177|Apcin 25μM plus proTAME 2μM R04 exp177]]|-1.99|
|[[:results:exp285|GW501516 25μM R06 exp285]]|-1.96|
|[[:results:exp236|GSK2606414 1μM R05 exp236]]|-1.93|
|[[:results:exp271|CCT251545 0.2μM R06 exp271]]|-1.9|
|[[:results:exp242|Radicicol 0.16μM R05 exp242]]|-1.87|
|[[:results:exp278|CVT-10216 0.1μM R06 exp278]]|-1.83|
|[[:results:exp54|Taxol 0.002μM R01 exp54]]|-1.82|
|[[:results:exp283|Glyphosate 1000μM R06 exp283]]|-1.79|
|[[:results:exp217|Mdivi-1 15μM R05 exp217]]|-1.79|
|[[:results:exp245|UM0011500 5μM R05 exp245]]|-1.79|
|[[:results:exp58|UM131593 0.1μM R01 exp58]]|-1.77|
|[[:results:exp290|LLY-283 2.6μM R06 exp290]]|-1.74|
|[[:results:exp380|NMS-873 0.07μM R07 exp380]]|-1.72|
|[[:results:exp405|Tenofovir 10μM R07 exp405]]|-1.72|
|[[:results:exp363|GSK-J4 1-1.25μM to day4 R07 exp363]]|-1.71|
|[[:results:exp147|Resveratrol 16μM R03 exp147]]|-1.71|
|[[:results:exp461|BS-181 20μM R08 exp461]]|1.7|
|[[:results:exp462|Cadmium 60μM R08 exp462]]|1.81|
|[[:results:exp492|iCRT14 30μM R08 exp492]]|1.92|
|[[:results:exp439|QNZ 0.01μM R08 exp439]]|2.06|
|[[:results:exp443|SNS-032 15μM R08 exp443]]|2.97|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:r:rpp21|RPP21]]|0.496|
|[[:human genes:g:gnb1l|GNB1L]]|0.491|
|[[:human genes:t:tsen54|TSEN54]]|0.478|
|[[:human genes:t:thg1l|THG1L]]|0.46|
|[[:human genes:u:uxt|UXT]]|0.458|
|[[:human genes:a:adsl|ADSL]]|0.448|
|[[:human genes:m:med4|MED4]]|0.439|
|[[:human genes:d:dpagt1|DPAGT1]]|0.434|
|[[:human genes:z:znf259|ZNF259]]|0.433|
|[[:human genes:t:telo2|TELO2]]|0.429|
|[[:human genes:r:rpia|RPIA]]|0.429|
|[[:human genes:g:gmppb|GMPPB]]|0.423|
|[[:human genes:m:med16|MED16]]|0.421|
|[[:human genes:s:sbf1|SBF1]]|0.417|
|[[:human genes:r:rnmt|RNMT]]|0.416|
|[[:human genes:w:wdr92|WDR92]]|0.415|
|[[:human genes:c:ccdc101|CCDC101]]|0.413|
|[[:human genes:t:ten1|TEN1]]|0.412|
|[[:human genes:m:mnat1|MNAT1]]|0.405|
|[[:human genes:a:alg13|ALG13]]|0.404|
|[[:human genes:g:gemin7|GEMIN7]]|0.403|
|[[:human genes:u:utp23|UTP23]]|0.403|
|[[:human genes:s:srp14|SRP14]]|0.403|
|[[:human genes:w:wdr82|WDR82]]|0.402|
|[[:human genes:f:fnta|FNTA]]|0.4|
|[[:human genes:e:exoc4|EXOC4]]|0.4|
|[[:human genes:a:atxn10|ATXN10]]|0.4|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 361/726
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|1/1|
|bile duct|18/28|
|blood|11/28|
|bone|14/25|
|breast|11/33|
|central nervous system|22/56|
|cervix|1/4|
|colorectal|8/17|
|esophagus|10/13|
|fibroblast|1/1|
|gastric|8/15|
|kidney|10/21|
|liver|2/20|
|lung|44/75|
|lymphocyte|9/14|
|ovary|14/26|
|pancreas|15/24|
|peripheral nervous system|12/16|
|plasma cell|6/15|
|prostate|1/1|
|skin|8/24|
|soft tissue|3/7|
|thyroid|1/2|
|upper aerodigestive|13/22|
|urinary tract|20/29|
|uterus|3/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 223
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.64 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='ERCC2 Expression in NALM6 Cells: 5.64'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>