Gene Symbol | ERCC2 |
Entrez ID | 2068 |
Uniprot ID | P18074 |
Description | excision repair cross-complementation group 2 |
Chromosomal Location | chr19: 45,349,837-45,370,918 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0000717 |
nucleotide-excision repair, DNA duplex unwinding |
The unwinding, or local denaturation, of the DNA duplex to create a bubble around the site of the DNA damage. |
TAS |
BP |
GO:0001666 |
response to hypoxia |
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. |
IEA |
BP |
GO:0001701 |
in utero embryonic development |
The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus. |
IEA |
BP |
GO:0006283 |
transcription-coupled nucleotide-excision repair |
The nucleotide-excision repair process that carries out preferential repair of DNA lesions on the actively transcribed strand of the DNA duplex. In addition, the transcription-coupled nucleotide-excision repair pathway is required for the recognition and repair of a small subset of lesions that are not recognized by the global genome nucleotide excision repair pathway. |
IDA|TAS |
BP |
GO:0006289 |
nucleotide-excision repair |
A DNA repair process in which a small region of the strand surrounding the damage is removed from the DNA helix as an oligonucleotide. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase. Nucleotide excision repair recognizes a wide range of substrates, including damage caused by UV irradiation (pyrimidine dimers and 6-4 photoproducts) and chemicals (intrastrand cross-links and bulky adducts). |
IGI|NAS |
BP |
GO:0006293 |
nucleotide-excision repair, preincision complex stabilization |
The stabilization of the multiprotein complex involved in damage recognition, DNA helix unwinding, and endonucleolytic cleavage at the site of DNA damage as well as the unwound DNA. The stabilization of the protein-DNA complex ensures proper positioning of the preincision complex before the phosphodiester backbone of the damaged strand is cleaved 3' and 5' of the site of DNA damage. |
TAS |
BP |
GO:0006294 |
nucleotide-excision repair, preincision complex assembly |
The aggregation, arrangement and bonding together of proteins on DNA to form the multiprotein complex involved in damage recognition, DNA helix unwinding, and endonucleolytic cleavage at the site of DNA damage. This assembly occurs before the phosphodiester backbone of the damaged strand is cleaved 3' and 5' of the site of DNA damage. |
TAS |
BP |
GO:0006295 |
nucleotide-excision repair, DNA incision, 3'-to lesion |
The endonucleolytic cleavage of the damaged strand of DNA 3' to the site of damage. The incision occurs at the junction of single-stranded DNA and double-stranded DNA that is formed when the DNA duplex is unwound. The incision precedes the incision formed 5' to the site of damage. |
TAS |
BP |
GO:0006296 |
nucleotide-excision repair, DNA incision, 5'-to lesion |
The endonucleolytic cleavage of the damaged strand of DNA 5' to the site of damage. The incision occurs at the junction of single-stranded DNA and double-stranded DNA that is formed when the DNA duplex is unwound. The incision follows the incision formed 3' to the site of damage. |
TAS |
BP |
GO:0006361 |
transcription initiation from RNA polymerase I promoter |
Any process involved in the assembly of the RNA polymerase I preinitiation complex (PIC) at an RNA polymerase I promoter region of a DNA template, resulting in the subsequent synthesis of RNA from that promoter. The initiation phase includes PIC assembly and the formation of the first few bonds in the RNA chain, including abortive initiation, which occurs when the first few nucleotides are repeatedly synthesized and then released. Promoter clearance, or release, is the transition between the initiation and elongation phases of transcription. |
TAS |
BP |
GO:0006362 |
transcription elongation from RNA polymerase I promoter |
The extension of an RNA molecule after transcription initiation and promoter clearance at an RNA polymerase I specific promoter by the addition of ribonucleotides catalyzed by RNA polymerase I. |
TAS |
BP |
GO:0006363 |
termination of RNA polymerase I transcription |
The process in which the synthesis of an RNA molecule by RNA polymerase I using a DNA template is completed. RNAP I termination requires binding of a terminator protein so specific sequences downstream of the transcription unit. |
TAS |
BP |
GO:0006366 |
transcription from RNA polymerase II promoter |
The synthesis of RNA from a DNA template by RNA polymerase II, originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs). |
IDA|TAS |
BP |
GO:0006367 |
transcription initiation from RNA polymerase II promoter |
Any process involved in the assembly of the RNA polymerase II preinitiation complex (PIC) at an RNA polymerase II promoter region of a DNA template, resulting in the subsequent synthesis of RNA from that promoter. The initiation phase includes PIC assembly and the formation of the first few bonds in the RNA chain, including abortive initiation, which occurs when the first few nucleotides are repeatedly synthesized and then released. Promoter clearance, or release, is the transition between the initiation and elongation phases of transcription. |
TAS |
BP |
GO:0006368 |
transcription elongation from RNA polymerase II promoter |
The extension of an RNA molecule after transcription initiation and promoter clearance at an RNA polymerase II promoter by the addition of ribonucleotides catalyzed by RNA polymerase II. |
TAS |
BP |
GO:0006370 |
7-methylguanosine mRNA capping |
Addition of the 7-methylguanosine cap to the 5' end of a nascent messenger RNA transcript. |
TAS |
BP |
GO:0006468 |
protein phosphorylation |
The process of introducing a phosphate group on to a protein. |
IEA |
BP |
GO:0006915 |
apoptotic process |
A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
IMP |
BP |
GO:0006979 |
response to oxidative stress |
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals. |
IMP |
BP |
GO:0007059 |
chromosome segregation |
The process in which genetic material, in the form of chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets. In eukaryotes, chromosome segregation begins with the condensation of chromosomes, includes chromosome separation, and ends when chromosomes have completed movement to the spindle poles. |
IMP |
BP |
GO:0007568 |
aging |
A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700). |
IEA |
BP |
GO:0008283 |
cell proliferation |
The multiplication or reproduction of cells, resulting in the expansion of a cell population. |
IEA |
BP |
GO:0009650 |
UV protection |
Any process in which an organism or cell protects itself from ultraviolet radiation (UV), which may also result in resistance to repeated exposure to UV. |
IGI |
BP |
GO:0009791 |
post-embryonic development |
The process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. See embryonic development. |
IEA |
BP |
GO:0016032 |
viral process |
A multi-organism process in which a virus is a participant. The other participant is the host. Includes infection of a host cell, replication of the viral genome, and assembly of progeny virus particles. In some cases the viral genetic material may integrate into the host genome and only subsequently, under particular circumstances, 'complete' its life cycle. |
IEA |
BP |
GO:0021510 |
spinal cord development |
The process whose specific outcome is the progression of the spinal cord over time, from its formation to the mature structure. The spinal cord primarily conducts sensory and motor nerve impulses between the brain and the peripheral nervous tissues. |
IEA |
BP |
GO:0030198 |
extracellular matrix organization |
A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix. |
IEA |
BP |
GO:0030282 |
bone mineralization |
The deposition of hydroxyapatite, a form of calcium phosphate with the formula Ca10(PO4)6(OH)2, in bone tissue. |
IEA |
BP |
GO:0032289 |
central nervous system myelin formation |
The process in which the wraps of cell membrane that constitute myelin are laid down around an axon by an oligodendrocyte in the central nervous system. |
IEA |
BP |
GO:0033683 |
nucleotide-excision repair, DNA incision |
A process that results in the endonucleolytic cleavage of the damaged strand of DNA. The incision occurs at the junction of single-stranded DNA and double-stranded DNA that is formed when the DNA duplex is unwound. |
IMP|TAS |
BP |
GO:0035264 |
multicellular organism growth |
The increase in size or mass of an entire multicellular organism, as opposed to cell growth. |
IEA |
BP |
GO:0035315 |
hair cell differentiation |
The process in which a relatively unspecialized cell acquires specialized features of a hair cell. |
IMP |
BP |
GO:0040016 |
embryonic cleavage |
The first few specialized divisions of an activated animal egg. |
IEA |
BP |
GO:0043249 |
erythrocyte maturation |
A developmental process, independent of morphogenetic (shape) change, that is required for an erythrocyte to attain its fully functional state. |
IEA |
BP |
GO:0043388 |
positive regulation of DNA binding |
Any process that increases the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). |
IEA |
BP |
GO:0045893 |
positive regulation of transcription, DNA-templated |
Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
IDA |
BP |
GO:0045944 |
positive regulation of transcription from RNA polymerase II promoter |
Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
IDA |
BP |
GO:0048820 |
hair follicle maturation |
A developmental process, independent of morphogenetic (shape) change, that is required for a hair follicle to attain its fully functional state. |
IEA |
BP |
GO:0060218 |
hematopoietic stem cell differentiation |
The process in which a relatively unspecialized cell acquires specialized features of a hematopoietic stem cell. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. |
IEA |
BP |
GO:0070911 |
global genome nucleotide-excision repair |
The nucleotide-excision repair process in which DNA lesions are removed from nontranscribed strands and from transcriptionally silent regions over the entire genome. |
TAS |
BP |
GO:1901990 |
regulation of mitotic cell cycle phase transition |
Any process that modulates the frequency, rate or extent of mitotic cell cycle phase transition. |
IMP |
CC |
GO:0000439 |
core TFIIH complex |
The 7 subunit core of TFIIH that is a part of either the general transcription factor holo-TFIIH or the nucleotide-excision repair factor 3 complex. In S. cerevisiae/humans the complex is composed of: Ssl2/XPB, Tfb1/p62, Tfb2/p52, Ssl1/p44, Tfb4/p34, Tfb5/p8 and Rad3/XPD. |
IEA |
CC |
GO:0005634 |
nucleus |
A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
IDA |
CC |
GO:0005654 |
nucleoplasm |
That part of the nuclear content other than the chromosomes or the nucleolus. |
TAS |
CC |
GO:0005675 |
holo TFIIH complex |
A complex that is capable of kinase activity directed towards the C-terminal Domain (CTD) of the largest subunit of RNA polymerase II and is essential for initiation at RNA polymerase II promoters in vitro. It is composed of the core TFIIH complex and the TFIIK complex. |
IDA|TAS |
CC |
GO:0005737 |
cytoplasm |
All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
IDA |
CC |
GO:0005819 |
spindle |
The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart. |
IDA |
CC |
GO:0019907 |
cyclin-dependent protein kinase activating kinase holoenzyme complex |
A cyclin-dependent kinase activating kinase complex capable of activating cyclin-dependent kinases by threonine phosphorylation, thus regulating cell cycle progression. consists of a kinase, cyclin and optional assembly factors, in human CDK7, CCNH and MNAT1. CAK activity is itself regulated throughout the cell cycle by T-loop phosphorylation of its kinase component (CDK7 in human). Phosphorylation of serine residues during mitosis inactivates the enzyme. Also capable of CAK phosphorylating the carboxyl-terminal domain (CTD) of RNA polymerase II and other transcription activating proteins, as part of the general transcription factor TFIIH. |
IDA |
CC |
GO:0071817 |
MMXD complex |
A protein complex that contains the proteins MMS19, MIP18 and XPD, localizes to mitotic spindle during mitosis, and is required for proper chromosome segregation. |
IDA |
MF |
GO:0003677 |
DNA binding |
Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
IEA |
MF |
GO:0004003 |
ATP-dependent DNA helicase activity |
Catalysis of the reaction: ATP + H2O = ADP + phosphate; this reaction drives the unwinding of the DNA helix. |
IEA |
MF |
GO:0004672 |
protein kinase activity |
Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. |
IDA |
MF |
GO:0005515 |
protein binding |
Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules). |
IPI |
MF |
GO:0005524 |
ATP binding |
Interacting selectively and non-covalently with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
IEA |
MF |
GO:0008022 |
protein C-terminus binding |
Interacting selectively and non-covalently with a protein C-terminus, the end of any peptide chain at which the 1-carboxy function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue. |
IPI |
MF |
GO:0008094 |
DNA-dependent ATPase activity |
Catalysis of the reaction: ATP + H2O = ADP + phosphate; this reaction requires the presence of single- or double-stranded DNA, and it drives another reaction. |
IDA|TAS |
MF |
GO:0008353 |
RNA polymerase II carboxy-terminal domain kinase activity |
Catalysis of the reaction: ATP + (DNA-directed RNA polymerase II) = ADP + phospho-(DNA-directed RNA polymerase II); phosphorylation occurs on residues in the carboxy-terminal domain (CTD) repeats. |
IDA |
MF |
GO:0043139 |
5'-3' DNA helicase activity |
Catalysis of the unwinding of the DNA helix in the direction 5' to 3'. |
IDA |
MF |
GO:0046872 |
metal ion binding |
Interacting selectively and non-covalently with any metal ion. |
IEA |
MF |
GO:0047485 |
protein N-terminus binding |
Interacting selectively and non-covalently with a protein N-terminus, the end of any peptide chain at which the 2-amino (or 2-imino) function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue. |
IPI |
MF |
GO:0051539 |
4 iron, 4 sulfur cluster binding |
Interacting selectively and non-covalently with a 4 iron, 4 sulfur (4Fe-4S) cluster; this cluster consists of four iron atoms, with the inorganic sulfur atoms found between the irons and acting as bridging ligands. |
IEA |
Domain ID | Description |
---|---|
IPR001945 |
RAD3/XPD family |
IPR002464 |
DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site |
IPR006554 |
Helicase-like, DEXD box c2 type |
IPR006555 |
ATP-dependent helicase, C-terminal |
IPR010614 |
DEAD2 |
IPR010643 |
Helical and beta-bridge domain |
IPR013020 |
DNA helicase (DNA repair), Rad3 type |
IPR014013 |
Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type |
IPR027417 |
P-loop containing nucleoside triphosphate hydrolase |
Pathway ID | Pathway Term | Pathway Source |
---|---|---|
hsa03022 |
Basal transcription factors |
KEGG |
hsa03420 |
Nucleotide excision repair |
KEGG |
WP405 |
Eukaryotic Transcription Initiation |
WikiPathways |
WP1601 |
Fluoropyrimidine Activity |
WikiPathways |
UMLS CUI | UMLS Term |
---|---|
C0005695 |
Bladder Neoplasm |
C0007137 |
Squamous Cell Carcinoma |
C0009404 |
Colorectal Neoplasms |
C0028797 |
Occupational Diseases |
C0031117 |
Peripheral Neuropathy |
C0033578 |
Prostatic Neoplasms |
C0037268 |
Skin Abnormalities |
C0037274 |
Dermatologic Disorders |
C0037286 |
Skin Neoplasms |
C0038356 |
Stomach Neoplasms |
C0038814 |
Sunburn |
C0079153 |
Hyperkeratosis, Epidermolytic |
C0242379 |
Malignant Neoplasm Of Lung |
C1866504 |
Photosensitive Trichothiodystrophy |
C1955934 |
Trichothiodystrophy Syndromes |
Tissue | Cell Type |
---|---|
placenta |
decidual cells |
skin |
keratinocytes |
testis |
cells in seminiferous ducts |
testis |
Leydig cells |
Pubmed ID | Author | Year | Title |
---|---|---|---|
22617121 |
Ouandaogo et al. |
2012 |
Differences in transcriptomic profiles of human cumulus cells isolated from oocytes at GV, MI and MII stages after in vivo andin vitro oocyte maturation |
Gene Symbol | Entrez ID | Uniprot ID | Score |
---|---|---|---|
CTPS1 |
1503 |
P17812 |
0.49 |
SQSTM1 |
8878 |
Q13501 |
0.49 |
STIP1 |
10963 |
P31948 |
0.49 |
AARSD1 |
80755 |
Q9BTE6 |
0.49 |
RAD51 |
5888 |
Q06609 |
0.52 |
GTF2H2C; GTF2H2C_2 |
728340 |
Q6P1K8 |
0.63 |
ERCC2 |
2068 |
P18074 |
0.73 |
MMS19 |
64210 |
Q96T76 |
0.80 |
MNAT1 |
4331 |
P51948 |
0.83 |
GTF2H3 |
2967 |
Q13889 |
0.85 |
ACAT1 |
38 |
P24752 |
0.49 |
HSF2 |
3298 |
Q03933 |
0.49 |
TOPBP1 |
11073 |
Q92547 |
0.49 |
NUDCD3 |
23386 |
Q8IVD9 |
0.49 |
CACYBP |
27101 |
Q9HB71 |
0.49 |
WDR61 |
80349 |
Q9GZS3 |
0.49 |
EIF2A |
83939 |
Q9BY44 |
0.49 |
AR |
367 |
P10275 |
0.56 |
TRIM25 |
7706 |
Q14258 |
0.56 |
CLUH |
23277 |
O75153 |
0.56 |
HERC5 |
51191 |
Q9UII4 |
0.56 |
CDK2 |
1017 |
P24941 |
0.63 |
EGFR |
1956 |
P00533 |
0.63 |
GTF2F1 |
2962 |
P35269 |
0.63 |
NTRK1 |
4914 |
P04629 |
0.63 |
XPO1 |
7514 |
O14980 |
0.63 |
CIAO1 |
9391 |
O76071 |
0.63 |
ISG15 |
9636 |
P05161 |
0.63 |
FAM96B |
51647 |
Q9Y3D0 |
0.63 |
PIDD1 |
55367 |
Q9HB75 |
0.63 |
ATF7IP |
55729 |
Q6VMQ6 |
0.63 |
UVSSA |
57654 |
Q2YD98 |
0.63 |
ERCC6 |
2074 |
Q03468 |
0.70 |
GTF2H5 |
404672 |
Q6ZYL4 |
0.72 |
RAD52 |
5893 |
P43351 |
0.73 |
CCNH |
902 |
P51946 |
0.80 |
TP53 |
7157 |
P04637 |
0.88 |
ERCC5 |
2073 |
P28715 |
0.90 |
GTF2H1 |
2965 |
P32780 |
0.90 |
CDK7 |
1022 |
P50613 |
0.91 |
GTF2H2 |
2966 |
Q13888 |
0.96 |
ERCC3 |
2071 |
P19447 |
0.97 |