Gene Symbol | FANCD2 |
Entrez ID | 2177 |
Uniprot ID | Q9BXW9 |
Description | Fanconi anemia complementation group D2 |
Chromosomal Location | chr3: 10,026,414-10,101,930 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0006281 |
DNA repair |
The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. |
IBA |
BP |
GO:0007129 |
synapsis |
The meiotic cell cycle process where side by side pairing and physical juxtaposition of homologous chromosomes is created during meiotic prophase. Synapsis begins when the chromosome arms begin to pair from the clustered telomeres and ends when synaptonemal complex or linear element assembly is complete. |
IEA |
BP |
GO:0007276 |
gamete generation |
The generation and maintenance of gametes in a multicellular organism. A gamete is a haploid reproductive cell. |
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. |
IDA |
BP |
GO:0034599 |
cellular response to oxidative stress |
Any process that results in a change in state or activity of a cell (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. |
IEA |
BP |
GO:0036297 |
interstrand cross-link repair |
Removal of a DNA interstrand crosslink (a covalent attachment of DNA bases on opposite strands of the DNA) and restoration of the DNA. DNA interstrand crosslinks occur when both strands of duplex DNA are covalently tethered together (e.g. by an exogenous or endogenous agent), thus preventing the strand unwinding necessary for essential DNA functions such as transcription and replication. |
TAS |
BP |
GO:0045589 |
regulation of regulatory T cell differentiation |
Any process that modulates the frequency, rate or extent of differentiation of regulatory T cells. |
IEA |
BP |
GO:0048854 |
brain morphogenesis |
The process in which the anatomical structures of the brain are generated and organized. The brain is one of the two components of the central nervous system and is the center of thought and emotion. It 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:0050727 |
regulation of inflammatory response |
Any process that modulates the frequency, rate or extent of the inflammatory response, the immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. |
IEA |
BP |
GO:0051090 |
regulation of sequence-specific DNA binding transcription factor activity |
Any process that modulates the frequency, rate or extent of the activity of a transcription factor, any factor involved in the initiation or regulation of transcription. |
IEA |
BP |
GO:0097150 |
neuronal stem cell population maintenance |
Any process in by an organism or tissue maintains a population of neuronal stem cells. |
IEA |
BP |
GO:2000348 |
regulation of CD40 signaling pathway |
Any process that modulates the frequency, rate or extent of signaling via the CD40 signaling pathway. |
IEA |
CC |
GO:0000793 |
condensed chromosome |
A highly compacted molecule of DNA and associated proteins resulting in a cytologically distinct structure. |
IBA |
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:0005730 |
nucleolus |
A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
IDA |
CC |
GO:0005737 |
cytoplasm |
All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
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:0070182 |
DNA polymerase binding |
Interacting selectively and non-covalently with a DNA polymerase. |
IPI |
Domain ID | Description |
---|---|
IPR011989 |
Armadillo-like helical |
IPR029448 |
Fanconi anaemia protein FANCD2 |
Pathway ID | Pathway Term | Pathway Source |
---|---|---|
hsa03460 |
Fanconi anemia pathway |
KEGG |
WP707 |
DNA Damage Response |
WikiPathways |
WP2516 |
ATM Signaling Pathway |
WikiPathways |
WP1530 |
miRNA Regulation of DNA Damage Response |
WikiPathways |
WP3959 |
DNA IR-Double Strand Breaks (DSBs) and cellular response via ATM |
WikiPathways |
h_bard1Pathway |
BRCA1-dependent Ub-ligase activity |
BioCarta |
h_atrbrcaPathway |
Role of BRCA1, BRCA2 and ATR in Cancer Susceptibility |
BioCarta |
UMLS CUI | UMLS Term |
---|---|
C0015625 |
Fanconi Anemia |
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 |
22951915 |
Haozi et al. |
2012 |
Altered gene expression profile in cumulus cells of mature MII oocytes from patients with polycystic ovary syndrome |
Gene Symbol | Entrez ID | Uniprot ID | Score |
---|---|---|---|
DNM1 |
1759 |
Q05193 |
0.63 |
FOXO3 |
2309 |
O43524 |
0.63 |
MLH1 |
4292 |
P40692 |
0.63 |
MSH2 |
4436 |
P43246 |
0.63 |
POLH |
5429 |
Q9Y253 |
0.63 |
FZR1 |
51343 |
Q9UM11 |
0.63 |
REV1 |
51455 |
Q9UBZ9 |
0.63 |
FANCL |
55120 |
Q9NW38 |
0.63 |
IRF2BPL |
64207 |
Q9H1B7 |
0.63 |
TERF1 |
7013 |
P54274 |
0.65 |
TNKS |
8658 |
O95271 |
0.70 |
FANCG |
2189 |
O15287 |
0.72 |
UBA1 |
7317 |
P22314 |
0.72 |
UBE2D1 |
7321 |
P51668 |
0.72 |
FANCC |
2176 |
Q00597 |
0.75 |
RAD51 |
5888 |
Q06609 |
0.75 |
RAD50 |
10111 |
Q92878 |
0.75 |
POLN |
353497 |
Q7Z5Q5 |
0.75 |
FAN1 |
22909 |
Q9Y2M0 |
0.76 |
RAD18 |
56852 |
Q9NS91 |
0.76 |
USP1 |
7398 |
O94782 |
0.77 |
KAT5 |
10524 |
Q92993 |
0.79 |
H2AFX |
3014 |
P16104 |
0.82 |
NBN |
4683 |
O60934 |
0.88 |
BRCA1 |
672 |
P38398 |
0.90 |
KPNA1 |
3836 |
P52294 |
0.49 |
ATR |
545 |
Q13535 |
0.52 |
UBE2T |
29089 |
Q9NPD8 |
0.52 |
WDR48 |
57599 |
Q8TAF3 |
0.52 |
ALDH3A2 |
224 |
P51648 |
0.63 |
CDC5L |
988 |
Q99459 |
0.63 |
CEBPD |
1052 |
P49716 |
0.63 |
ELAVL1 |
1994 |
Q15717 |
0.63 |
NTRK1 |
4914 |
P04629 |
0.63 |
PHKG2 |
5261 |
P15735 |
0.63 |
PTGER3 |
5733 |
P43115 |
0.63 |
RBBP8 |
5932 |
Q99708 |
0.63 |
TNFSF13B |
10673 |
Q9Y275 |
0.63 |
CA14 |
23632 |
Q9ULX7 |
0.63 |
DCLRE1B |
64858 |
Q9H816 |
0.63 |
IPO4 |
79711 |
Q8TEX9 |
0.63 |
DCP2 |
167227 |
Q8IU60 |
0.63 |
P2RY8 |
286530 |
Q86VZ1 |
0.63 |
CDC42 |
998 |
P60953 |
0.72 |
EPHA2 |
1969 |
P29317 |
0.72 |
HNRNPD |
3184 |
Q14103 |
0.72 |
MYC |
4609 |
P01106 |
0.72 |
TRAF6 |
7189 |
Q9Y4K3 |
0.72 |
BAG6 |
7917 |
P46379 |
0.72 |
YEATS4 |
8089 |
O95619 |
0.72 |
JRKL |
8690 |
Q9Y4A0 |
0.72 |
MDC1 |
9656 |
Q14676 |
0.72 |
EMC2 |
9694 |
Q15006 |
0.72 |
ITGB3BP |
23421 |
Q13352 |
0.72 |
CDK20 |
23552 |
Q8IZL9 |
0.72 |
PIGS |
94005 |
Q96S52 |
0.72 |
CNTROB |
116840 |
Q8N137 |
0.72 |
SUMO2 |
6613 |
P61956 |
0.73 |
BARD1 |
580 |
Q99728 |
0.74 |
FSCN1 |
6624 |
Q16658 |
0.76 |
PCNA |
5111 |
P12004 |
0.78 |
TNFRSF1A |
7132 |
P19438 |
0.78 |
TNFRSF1B |
7133 |
P20333 |
0.78 |
MEN1 |
4221 |
O00255 |
0.79 |
BLM |
641 |
P54132 |
0.83 |
MRE11A |
4361 |
P49959 |
0.85 |
ATM |
472 |
Q13315 |
0.89 |
FANCE |
2178 |
Q9HB96 |
0.89 |
FANCI |
55215 |
Q9NVI1 |
0.89 |
BRCA2 |
675 |
P51587 |
0.90 |