Protein Description

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

No tissues found.

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

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