Gene Symbol | BRCA2 |
Entrez ID | 675 |
Uniprot ID | P51587 |
Description | breast cancer 2 |
Chromosomal Location | chr13: 32,315,474-32,400,266 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0000722 |
telomere maintenance via recombination |
Any recombinational process that contributes to the maintenance of proper telomeric length. |
IEA |
BP |
GO:0000724 |
double-strand break repair via homologous recombination |
The error-free repair of a double-strand break in DNA in which the broken DNA molecule is repaired using homologous sequences. A strand in the broken DNA searches for a homologous region in an intact chromosome to serve as the template for DNA synthesis. The restoration of two intact DNA molecules results in the exchange, reciprocal or nonreciprocal, of genetic material between the intact DNA molecule and the broken DNA molecule. |
IDA|IMP |
BP |
GO:0000731 |
DNA synthesis involved in DNA repair |
Synthesis of DNA that proceeds from the broken 3' single-strand DNA end and uses the homologous intact duplex as the template. |
TAS |
BP |
GO:0000732 |
strand displacement |
The rejection of the broken 3' single-strand DNA molecule that formed heteroduplex DNA with its complement in an intact duplex DNA. The Watson-Crick base pairing in the original duplex is restored. The rejected 3' single-strand DNA molecule reanneals with its original complement to reform two intact duplex molecules. |
TAS |
BP |
GO:0000910 |
cytokinesis |
The division of the cytoplasm and the plasma membrane of a cell and its partitioning into two daughter cells. |
IDA |
BP |
GO:0001556 |
oocyte maturation |
A developmental process, independent of morphogenetic (shape) change, that is required for an oocyte to attain its fully functional state. Oocyte maturation commences after reinitiation of meiosis commonly starting with germinal vesicle breakdown, and continues up to the second meiotic arrest prior to fertilization. |
IEA |
BP |
GO:0001833 |
inner cell mass cell proliferation |
The proliferation of cells in the inner cell mass. |
IEA |
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). |
IMP |
BP |
GO:0006302 |
double-strand break repair |
The repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix. |
IMP |
BP |
GO:0006978 |
DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator |
A cascade of processes induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, resulting in the induction of the transcription of p21 (also known as WAF1, CIP1 and SDI1) or any equivalent protein, in response to the detection of DNA damage. |
IEA |
BP |
GO:0007141 |
male meiosis I |
A cell cycle process comprising the steps by which a cell progresses through male meiosis I, the first meiotic division in the male germline. |
IEA |
BP |
GO:0007283 |
spermatogenesis |
The process of formation of spermatozoa, including spermatocytogenesis and spermiogenesis. |
IEA |
BP |
GO:0007420 |
brain development |
The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). |
IEA |
BP |
GO:0007569 |
cell aging |
An aging process that has as participant a cell after a cell has stopped dividing. Cell aging may occur when a cell has temporarily stopped dividing through cell cycle arrest (GO:0007050) or when a cell has permanently stopped dividing, in which case it is undergoing cellular senescence (GO:0090398). May precede cell death (GO:0008219) and succeed cell maturation (GO:0048469). |
IEA |
BP |
GO:0008585 |
female gonad development |
The process whose specific outcome is the progression of the female gonad over time, from its formation to the mature structure. |
IEA |
BP |
GO:0010165 |
response to X-ray |
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 X-ray radiation. An X-ray is a form of electromagnetic radiation with a wavelength in the range of 10 nanometers to 100 picometers (corresponding to frequencies in the range 30 PHz to 3 EHz). |
IEA |
BP |
GO:0010225 |
response to UV-C |
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 UV-C radiation stimulus. UV-C radiation (UV-C light) spans the wavelengths 100 to 280 nm. |
IEA |
BP |
GO:0010332 |
response to gamma radiation |
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 gamma radiation stimulus. Gamma radiation is a form of electromagnetic radiation (EMR) or light emission of a specific frequency produced from sub-atomic particle interaction, such as electron-positron annihilation and radioactive decay. Gamma rays are generally characterized as EMR having the highest frequency and energy, and also the shortest wavelength, within the electromagnetic radiation spectrum. |
IEA |
BP |
GO:0030097 |
hemopoiesis |
The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates. |
IEA |
BP |
GO:0031052 |
chromosome breakage |
Regulated cleavage of the developing macronuclear genome at a limited number of chromosome breakage sites (CBS). The macronuclear destined segment (MDS) sequence adjacent to the CBS (or separated from it by a BES) receives a macronuclear telomere following chromosome breakage. |
IEA |
BP |
GO:0032465 |
regulation of cytokinesis |
Any process that modulates the frequency, rate or extent of the division of the cytoplasm of a cell and its separation into two daughter cells. |
IEA |
BP |
GO:0033600 |
negative regulation of mammary gland epithelial cell proliferation |
Any process that stops, prevents or reduces the rate or extent of mammary gland epithelial cell proliferation. |
IDA |
BP |
GO:0042771 |
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator |
A series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, in response to the detection of DNA damage, and ends when the execution phase of apoptosis is triggered. |
IEA |
BP |
GO:0043966 |
histone H3 acetylation |
The modification of histone H3 by the addition of an acetyl group. |
IDA |
BP |
GO:0043967 |
histone H4 acetylation |
The modification of histone H4 by the addition of an acetyl group. |
IDA |
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:0045931 |
positive regulation of mitotic cell cycle |
Any process that activates or increases the rate or extent of progression through the mitotic cell cycle. |
IEA |
BP |
GO:0048478 |
replication fork protection |
Any process that prevents the collapse of stalled replication forks. |
IEA |
BP |
GO:0051298 |
centrosome duplication |
The replication of a centrosome, a structure comprised of a pair of centrioles and peri-centriolar material from which a microtubule spindle apparatus is organized. |
IMP |
BP |
GO:0070200 |
establishment of protein localization to telomere |
The directed movement of a protein to a specific location in the telomeric region of a chromosome. |
IDA |
BP |
GO:1990426 |
mitotic recombination-dependent replication fork processing |
Replication fork processing that includes recombination between DNA near the arrested fork and homologous sequences. Proteins involved in homologous recombination are required for replication restart. |
IMP |
CC |
GO:0000784 |
nuclear chromosome, telomeric region |
The terminal region of a linear nuclear chromosome that includes the telomeric DNA repeats and associated proteins. |
IDA |
CC |
GO:0000800 |
lateral element |
A proteinaceous core found between sister chromatids during meiotic prophase. |
IDA |
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. |
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:0005813 |
centrosome |
A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
IDA |
CC |
GO:0030141 |
secretory granule |
A small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. Secretory granules move towards the periphery of the cell and upon stimulation, their membranes fuse with the cell membrane, and their protein load is exteriorized. Processing of the contained protein may take place in secretory granules. |
IDA |
CC |
GO:0033593 |
BRCA2-MAGE-D1 complex |
A heterodimeric protein complex formed of BRCA2 and MAGE-D1; may mediate the synergistic activities of the two proteins in regulating cell growth. |
IDA |
CC |
GO:0043234 |
protein complex |
A stable macromolecular complex composed (only) of two or more polypeptide subunits along with any covalently attached molecules (such as lipid anchors or oligosaccharide) or non-protein prosthetic groups (such as nucleotides or metal ions). Prosthetic group in this context refers to a tightly bound cofactor. The component polypeptide subunits may be identical. |
IDA |
MF |
GO:0002020 |
protease binding |
Interacting selectively and non-covalently with any protease or peptidase. |
IPI |
MF |
GO:0003697 |
single-stranded DNA binding |
Interacting selectively and non-covalently with single-stranded DNA. |
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: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. |
IDA |
MF |
GO:0010484 |
H3 histone acetyltransferase activity |
Catalysis of the reaction: acetyl-CoA + histone H3 = CoA + acetyl-histone H3. |
IDA |
MF |
GO:0010485 |
H4 histone acetyltransferase activity |
Catalysis of the reaction: acetyl-CoA + histone H4 = CoA + acetyl-histone H4. |
IDA |
MF |
GO:0043015 |
gamma-tubulin binding |
Interacting selectively and non-covalently with the microtubule constituent protein gamma-tubulin. |
IPI |
Domain ID | Description |
---|---|
IPR002093 |
BRCA2 repeat |
IPR012340 |
Nucleic acid-binding, OB-fold |
IPR015187 |
BRCA2, oligonucleotide/oligosaccharide-binding 1 |
IPR015188 |
BRCA2, oligonucleotide/oligosaccharide-binding 3 |
IPR015205 |
Tower domain |
IPR015252 |
Breast cancer type 2 susceptibility protein, helical domain |
IPR015525 |
Breast cancer type 2 susceptibility protein |
Pathway ID | Pathway Term | Pathway Source |
---|---|---|
hsa03440 |
Homologous recombination |
KEGG |
hsa03460 |
Fanconi anemia pathway |
KEGG |
hsa05200 |
Pathways in cancer |
KEGG |
hsa05212 |
Pancreatic cancer |
KEGG |
hsa05224 |
Breast cancer |
KEGG |
WP1984 |
Integrated Breast Cancer Pathway |
WikiPathways |
WP3959 |
DNA IR-Double Strand Breaks (DSBs) and cellular response via ATM |
WikiPathways |
WP2261 |
Signaling Pathways in Glioblastoma |
WikiPathways |
WP186 |
Homologous recombination |
WikiPathways |
h_atrbrcaPathway |
Role of BRCA1, BRCA2 and ATR in Cancer Susceptibility |
BioCarta |
UMLS CUI | UMLS Term |
---|---|
C0006142 |
Malignant Neoplasm Of Breast |
C0015625 |
Fanconi Anemia |
C0017638 |
Glioma |
C0024121 |
Lung Neoplasms |
C0025149 |
Medulloblastoma |
C0027672 |
Neoplastic Syndromes, Hereditary |
C0027708 |
Nephroblastoma |
C0030297 |
Pancreatic Neoplasm |
C0031117 |
Peripheral Neuropathy |
C0033578 |
Prostatic Neoplasms |
C0206720 |
Squamous Cell Neoplasms |
C0242379 |
Malignant Neoplasm Of Lung |
C0376358 |
Malignant Neoplasm Of Prostate |
C0677776 |
Hereditary Breast And Ovarian Cancer Syndrome |
C0919267 |
Ovarian Neoplasm |
C1140680 |
Malignant Neoplasm Of Ovary |
C1458155 |
Mammary Neoplasms |
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 |
---|---|---|---|
LMNA |
4000 |
P02545 |
0.06 |
CCNE1 |
898 |
P24864 |
0.52 |
BRCA2 |
675 |
P51587 |
0.63 |
FYN |
2534 |
P06241 |
0.63 |
SKP2 |
6502 |
Q13309 |
0.63 |
MAGED1 |
9500 |
Q9Y5V3 |
0.63 |
CCNA2 |
890 |
P20248 |
0.65 |
CDK2 |
1017 |
P24941 |
0.65 |
USP11 |
8237 |
P51784 |
0.65 |
SYCP3 |
50511 |
Q8IZU3 |
0.65 |
RPA2 |
6118 |
P15927 |
0.68 |
SMAD2 |
4087 |
Q15796 |
0.72 |
PCNA |
5111 |
P12004 |
0.72 |
RAD21 |
5885 |
O60216 |
0.72 |
CDC45 |
8318 |
O75419 |
0.72 |
SMC3 |
9126 |
Q9UQE7 |
0.72 |
AURKB |
9212 |
Q96GD4 |
0.72 |
FANCE |
2178 |
Q9HB96 |
0.73 |
MCPH1 |
79648 |
Q8NEM0 |
0.75 |
BRE |
9577 |
Q9NXR7 |
0.77 |
POLH |
5429 |
Q9Y253 |
0.78 |
PDS5B |
23047 |
Q9NTI5 |
0.78 |
FLNA |
2316 |
P21333 |
0.79 |
RPA1 |
6117 |
P27694 |
0.79 |
DMC1 |
11144 |
Q14565 |
0.79 |
XRCC3 |
7517 |
O43542 |
0.87 |
BRCC3 |
79184 |
P46736 |
0.87 |
TP53 |
7157 |
P04637 |
0.89 |
BARD1 |
580 |
Q99728 |
0.90 |
BRCA1 |
672 |
P38398 |
0.90 |
FANCD2 |
2177 |
Q9BXW9 |
0.90 |
RAD51 |
5888 |
Q06609 |
0.97 |
HNRNPC |
3183 |
P07910 |
0.49 |
NEDD4 |
4734 |
P46934 |
0.49 |
SERPINH1 |
871 |
P50454 |
0.56 |
UQCC1 |
55245 |
Q9NVA1 |
0.56 |
ABL1 |
25 |
P00519 |
0.63 |
ATR |
545 |
Q13535 |
0.63 |
BACH1 |
571 |
O14867 |
0.63 |
GRB2 |
2885 |
P62993 |
0.63 |
MGMT |
4255 |
P16455 |
0.63 |
MLF1 |
4291 |
P58340 |
0.63 |
PSMD3 |
5709 |
O43242 |
0.63 |
SP1 |
6667 |
P08047 |
0.63 |
MTA2 |
9219 |
O94776 |
0.63 |
IER2 |
9592 |
Q9BTL4 |
0.63 |
PSMD6 |
9861 |
Q15008 |
0.63 |
RABL2A |
11159 |
Q9UBK7 |
0.63 |
CARD8 |
22900 |
Q9Y2G2 |
0.63 |
KIF4A |
24137 |
O95239 |
0.63 |
NSL1 |
25936 |
Q96IY1 |
0.63 |
SDF4 |
51150 |
Q9BRK5 |
0.63 |
VPS28 |
51160 |
Q9UK41 |
0.63 |
MIER2 |
54531 |
Q8N344 |
0.63 |
NSMCE4A |
54780 |
Q9NXX6 |
0.63 |
DSN1 |
79980 |
Q9H410 |
0.63 |
DTNBP1 |
84062 |
Q96EV8 |
0.63 |
CFAP52 |
146845 |
Q8N1V2 |
0.65 |
RAD51C |
5889 |
O43502 |
0.68 |
PMS1 |
5378 |
P54277 |
0.72 |
PMS2 |
5395 |
P54278 |
0.72 |
STAT5A |
6776 |
P42229 |
0.73 |
ATM |
472 |
Q13315 |
0.75 |
RAD23A |
5886 |
P54725 |
0.75 |
MORF4L1 |
10933 |
Q9UBU8 |
0.77 |
BUB1B |
701 |
O60566 |
0.78 |
SMAD3 |
4088 |
P84022 |
0.79 |
BCCIP |
56647 |
Q9P287 |
0.79 |
EMSY |
56946 |
Q7Z589 |
0.79 |
H2AFX |
3014 |
P16104 |
0.81 |
CHEK2 |
11200 |
O96017 |
0.82 |
FANCG |
2189 |
O15287 |
0.88 |
PLK1 |
5347 |
P53350 |
0.88 |
KAT2B |
8850 |
Q92831 |
0.88 |
SHFM1 |
7979 |
P60896 |
0.90 |
HMG20B |
10362 |
Q9P0W2 |
0.90 |
PALB2 |
79728 |
Q86YC2 |
0.90 |