Protein Description

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

No databases found.

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