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FANCD2 and BLM
Data Source:
BioGRID
(affinity chromatography technology)
HPRD
(in vitro)
FANCD2
BLM
Description
FA complementation group D2
BLM RecQ like helicase
Image
GO Annotations
Cellular Component
Condensed Chromosome
Nucleus
Nucleoplasm
Nucleolus
Cytosol
Nuclear Body
Nuclear Chromosome
Chromosome, Telomeric Region
Lateral Element
Nucleus
Nucleoplasm
Replication Fork
Chromosome
Nucleolus
Cytoplasm
Cytosol
Nuclear Matrix
PML Body
Protein-containing Complex
Molecular Function
Protein Binding
DNA Polymerase Binding
Four-way Junction DNA Binding
Y-form DNA Binding
Bubble DNA Binding
P53 Binding
DNA Binding
DNA Helicase Activity
Single-stranded DNA Binding
Helicase Activity
Protein Binding
ATP Binding
DNA-dependent ATPase Activity
Zinc Ion Binding
Four-way Junction Helicase Activity
ATPase Activity
Annealing Helicase Activity
Identical Protein Binding
Protein Homodimerization Activity
3'-5' DNA Helicase Activity
G-quadruplex DNA Binding
Forked DNA-dependent Helicase Activity
Telomeric D-loop Binding
Telomeric G-quadruplex DNA Binding
8-hydroxy-2'-deoxyguanosine DNA Binding
Biological Process
Homologous Chromosome Pairing At Meiosis
Gamete Generation
Response To Gamma Radiation
Intra-S DNA Damage Checkpoint
Cellular Response To Oxidative Stress
Interstrand Cross-link Repair
Regulation Of Regulatory T Cell Differentiation
Brain Morphogenesis
Regulation Of Inflammatory Response
Regulation Of DNA-binding Transcription Factor Activity
Neuronal Stem Cell Population Maintenance
Double-strand Break Repair Involved In Meiotic Recombination
Regulation Of CD40 Signaling Pathway
Regulation Of Cyclin-dependent Protein Serine/threonine Kinase Activity
Telomere Maintenance
Double-strand Break Repair Via Homologous Recombination
DNA Double-strand Break Processing
DNA Strand Renaturation
DNA Replication
DNA Unwinding Involved In DNA Replication
DNA Repair
DNA Recombination
Cellular Response To DNA Damage Stimulus
Mitotic G2 DNA Damage Checkpoint
Response To X-ray
Replication Fork Processing
DNA Duplex Unwinding
G-quadruplex DNA Unwinding
Positive Regulation Of Transcription, DNA-templated
Negative Regulation Of DNA Recombination
Replication Fork Protection
Protein Complex Oligomerization
Protein Homooligomerization
Negative Regulation Of Cell Division
Telomeric D-loop Disassembly
Cellular Response To Ionizing Radiation
Cellular Response To Hydroxyurea
Cellular Response To Camptothecin
Regulation Of DNA-dependent DNA Replication
T-circle Formation
Regulation Of Signal Transduction By P53 Class Mediator
Pathways
Fanconi Anemia Pathway
TP53 Regulates Transcription of DNA Repair Genes
Processive synthesis on the C-strand of the telomere
SUMOylation of DNA damage response and repair proteins
HDR through Single Strand Annealing (SSA)
HDR through Homologous Recombination (HRR)
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
Resolution of D-loop Structures through Holliday Junction Intermediates
Homologous DNA Pairing and Strand Exchange
Processing of DNA double-strand break ends
Presynaptic phase of homologous DNA pairing and strand exchange
Regulation of TP53 Activity through Phosphorylation
G2/M DNA damage checkpoint
Meiotic recombination
Drugs
Diseases
Fanconi anemia
DNA repair defects, including the following six diseases: Ataxia telangiectasia (AT); Ataxia-talangiectasia-like syndrome; Nijmegen syndrome; DNA ligase I deficiency; DNA ligase IV deficiency; Bloom's syndrome
Defects in RecQ helicases, including: Bloom's syndrome; Werner's syndrome; Rothmund-Thomson syndrome
GWAS
Alzheimer's disease (
24755620
)
Waist-to-hip ratio adjusted for BMI (
28552196
)
Coronary artery disease (
32469254
)
Daytime sleep phenotypes (
27126917
)
Interacting Genes
28 interacting genes:
ATM
ATR
BLM
BRCA1
BRCA2
BRIP1
FANCC
FANCE
FANCI
FANCL
H2AC4
H2BC3
H3C1
H4C1
MEN1
MRE11
NBN
PCNA
RAD51
TERF1
TNFRSF1A
TNFRSF1B
TNKS
UBB
UBE2T
UHRF1
UHRF2
USP1
38 interacting genes:
ATR
ATRX
BRIP1
CASP3
CHAF1A
CHEK1
DNA2
EXO1
FANCD2
FBXW7
FEN1
JUN
MCRS1
MIB1
MLH1
MX1
NEK11
PSMD3
RAD51
RAD51D
RNF8
RPA1
SMC1A
SPIDR
SUMO1
SUMO2
SUMO3
SYN1
TERF1
TERF2
TOP3A
TOPBP1
TP53
TP53BP1
TRIM49
UBE2I
UPF2
WRN
Entrez ID
2177
641
HPRD ID
01968
05211
Ensembl ID
ENSG00000144554
ENSG00000197299
Uniprot IDs
Q9BXW9
B7ZKN7
H0YNU5
P54132
PDB IDs
6VAA
6VAD
6VAE
6VAF
2KV2
2MH9
2RRD
3WE2
3WE3
4CDG
4CGZ
4O3M
5LUP
5MK5
5U6K
Enriched GO Terms of Interacting Partners
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