Aliases for FANCD2 Gene
Aliases for FANCD2 Gene
External Ids for FANCD2 Gene
- HGNC: 3585
- Entrez Gene: 2177
- Ensembl: ENSG00000144554
- OMIM: 613984
- UniProtKB: Q9BXW9
Previous HGNC Symbols for FANCD2 Gene
- FACD
- FANCD
Previous GeneCards Identifiers for FANCD2 Gene
- GC03P009997
- GC03P010043
- GC03P010008
- GC03P010068
Summaries for FANCD2 Gene
-
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
GeneCards Summary for FANCD2 Gene
FANCD2 (Fanconi Anemia Complementation Group D2) is a Protein Coding gene. Diseases associated with FANCD2 include Fanconi Anemia, Complementation Group D2 and Fanconi Anemia, Complementation Group A. Among its related pathways are ATM Pathway and Fanconi anemia pathway. GO annotations related to this gene include binding and DNA polymerase binding.
UniProtKB/Swiss-Prot for FANCD2 Gene
-
Required for maintenance of chromosomal stability. Promotes accurate and efficient pairing of homologs during meiosis. Involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing. May participate in S phase and G2 phase checkpoint activation upon DNA damage. Plays a role in preventing breakage and loss of missegregating chromatin at the end of cell division, particularly after replication stress. Required for the targeting, or stabilization, of BLM to non-centromeric abnormal structures induced by replicative stress. Promotes BRCA2/FANCD1 loading onto damaged chromatin. May also be involved in B-cell immunoglobulin isotype switching.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FANCD2 Gene
Genomics for FANCD2 Gene
Regulatory Elements for FANCD2 Gene
Regulatory Element Products
Genomic Location for FANCD2 Gene
- Chromosome:
- 3
- Start:
- 10,026,387 bp from pter
- End:
- 10,101,932 bp from pter
- Size:
- 75,546 bases
- Orientation:
- Plus strand
Genomic View for FANCD2 Gene
- Cytogenetic band:
-
- 3p25.3 by Ensembl
- 3p25.3 by Entrez Gene
- 3p25.3 by HGNC
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for FANCD2 Gene
Proteins for FANCD2 Gene
-
Protein details for FANCD2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9BXW9-FACD2_HUMAN
- Recommended name:
- Fanconi anemia group D2 protein
- Protein Accession:
- Q9BXW9
- Q2LA86
- Q69YP9
- Q6PJN7
- Q9BQ06
- Q9H9T9
Protein attributes for FANCD2 Gene
- Size:
- 1451 amino acids
- Molecular mass:
- 164128 Da
- Quaternary structure:
-
- Interacts directly with FANCE and FANCI. Interacts with USP1 and MEN1. The ubiquitinated form specifically interacts with BRCA1 and BLM. Both the nonubiquitinated and the monoubiquitinated forms interact with BRCA2; this interaction is mediated by phosphorylated FANCG and the complex also includes XCCR3. The ubiquitinated form specifically interacts with MTMR15/FAN1 (via UBZ-type zinc finger), leading to recruit MTMR15/FAN1 to sites of DNA damage. Interacts with DCLRE1B/Apollo (PubMed:11239454, PubMed:12093742, PubMed:12649160, PubMed:12874027, PubMed:15115758, PubMed:15199141, PubMed:15257300, PubMed:15694335, PubMed:17412408, PubMed:17460694, PubMed:18212739, PubMed:18469862, PubMed:20603015, PubMed:20603016, PubMed:20603073). Interacts with POLN (PubMed:19995904).
- SequenceCaution:
-
- Sequence=BAB14132.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Protein Expression for FANCD2 Gene
Post-translational modifications for FANCD2 Gene
- Monoubiquitinated on Lys-561 during S phase and upon genotoxic stress by FANCL in complex with E2 ligases UBE2T or UBE2W (isoform 1 and isoform 2). Deubiquitinated by USP1 as cells enter G2/M, or once DNA repair is completed. Monoubiquitination requires the joint intervention of the FANC core complex, including FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, and FANCM, and proteins involved in cell cycle checkpoints and DNA repair, including RPA1, ATR, CHEK1 and BRCA1, and is mediated by FANCL/PHF9. Ubiquitination is required for binding to chromatin, interaction with BRCA1, BRCA2 and MTMR15/FAN1, DNA repair, and normal cell cycle progression, but not for phosphorylation on Ser-222 or interaction with MEN1.
- Phosphorylated in response to various genotoxic stresses by ATM and/or ATR. Upon ionizing radiation, phosphorylated by ATM on Ser-222 and Ser-1404. Phosphorylation on Ser-222 is required for S-phase checkpoint activation, but not for ubiquitination, foci formation, or DNA repair. In contrast, phosphorylation by ATR on other sites may be required for ubiquitination and foci formation.
- Ubiquitination at Lys53, Lys78, Lys133, isoforms=2, 3, 4156, Lys181, Lys261, isoforms=2, 3561, Lys723, isoforms=2, 3913, and isoforms=21390
- Modification sites at PhosphoSitePlus
Other Protein References for FANCD2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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Protein Products
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Assay Products
- antibodies-online Kits for FANCD2: See all 10
No data available for DME Specific Peptides for FANCD2 Gene
Domains & Families for FANCD2 Gene
Gene Families for FANCD2 Gene
Suggested Antigen Peptide Sequences for FANCD2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9BXW9UniProtKB/Swiss-Prot:
FACD2_HUMAN :- The C-terminal 24 residues of isoform 2 are required for its function.
- Domain:
-
- The C-terminal 24 residues of isoform 2 are required for its function.
Function for FANCD2 Gene
Molecular function for FANCD2 Gene
- UniProtKB/Swiss-Prot Function:
- Required for maintenance of chromosomal stability. Promotes accurate and efficient pairing of homologs during meiosis. Involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing. May participate in S phase and G2 phase checkpoint activation upon DNA damage. Plays a role in preventing breakage and loss of missegregating chromatin at the end of cell division, particularly after replication stress. Required for the targeting, or stabilization, of BLM to non-centromeric abnormal structures induced by replicative stress. Promotes BRCA2/FANCD1 loading onto damaged chromatin. May also be involved in B-cell immunoglobulin isotype switching.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 12874027 |
| GO:0070182 | DNA polymerase binding | IPI | 19995904 |
Phenotypes for FANCD2 Gene
- MGI mutant phenotypes for FANCD2:
-
inferred from 2 alleles
- mortality/aging
- cellular phenotype
- behavior/neurological phenotype
- growth/size/body region phenotype
- immune system phenotype
- nervous system phenotype
- homeostasis/metabolism phenotype
- neoplasm
- reproductive system phenotype
- endocrine/exocrine gland phenotype
- vision/eye phenotype
- limbs/digits/tail phenotype
- hematopoietic system phenotype
- obsolete other phenotype
- GenomeRNAi human phenotypes for FANCD2:
-
- Increased vaccinia virus (VACV) infection
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Synthetic lethal with Ras
- Decreased ionizing radiation sensitivity
- Increased shRNA abundance (Z-score > 2)
- Decreased viability after Maraba virus infection
- Decreased shRNA abundance (Z-score < -2)
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Decreased shRNA abundance
- Increased viability with MLN4924 (a NAE inhibitor)
- Increased Nanog expression
- Reduced shRNA abundance in FBW7 KO line
Animal Models for FANCD2 Gene
- MGI Knock Outs for FANCD2:
-
- Fancd2 tm1Hou
Animal Model Products
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CRISPR Products
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miRNA for FANCD2 Gene
- miRTarBase miRNAs that target FANCD2
miRNA Products
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Inhibitory RNA Products
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Cell Line Products
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Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FANCD2 Gene
Localization for FANCD2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for FANCD2 Gene
- Nucleus. Note=Concentrates in nuclear foci during S phase and upon genotoxic stress. At the onset of mitosis, excluded from chromosomes and diffuses into the cytoplasm, returning to the nucleus at the end of cell division. Observed in a few spots localized in pairs on the sister chromatids of mitotic chromosome arms and not centromeres, one on each chromatids. These foci coincide with common fragile sites and could be sites of replication fork stalling. The foci are frequently interlinked through BLM-associated ultra-fine DNA bridges. Following aphidicolin treatment, targets chromatid gaps and breaks.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000793 | condensed chromosome | IBA | -- |
| GO:0005634 | nucleus | IEA,IDA | 26323318 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005730 | nucleolus | IDA | -- |
| GO:0005829 | cytosol | IDA | -- |
Pathways & Interactions for FANCD2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Fanconi anemia pathway | ||
| 2 | ATM Pathway |
.47
|
|
| 3 | BRCA1 Pathway | ||
| 4 | Gene Expression |
.48
|
|
| 5 | DNA Damage Response | ||
Pathways by source for FANCD2 Gene
1 GeneTex pathway for FANCD2 Gene
4 BioSystems pathways for FANCD2 Gene
6 Reactome pathways for FANCD2 Gene
1 KEGG pathway for FANCD2 Gene
2 GeneGo (Thomson Reuters) pathways for FANCD2 Gene
5 Qiagen pathways for FANCD2 Gene
Interacting Proteins for FANCD2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006281 | DNA repair | IBA | -- |
| GO:0006974 | cellular response to DNA damage stimulus | IEA | -- |
| GO:0007049 | cell cycle | IEA | -- |
| GO:0007129 | synapsis | IEA | -- |
| GO:0007276 | gamete generation | IEA | -- |
Transcripts for FANCD2 Gene
mRNA/cDNA for FANCD2 Gene
- (3) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (47) Selected AceView cDNA sequences:
- (13) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for FANCD2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for FANCD2
-
Santa Cruz Biotechnology (SCBT) CRISPR for FANCD2
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miRNA Products
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Inhibitory RNA Products
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Expression for FANCD2 Gene
mRNA differential expression in normal tissues according to GTEx for FANCD2 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FANCD2 Gene
NURSA nuclear receptor signaling pathways regulating expression of FANCD2 Gene:
FANCD2SOURCE GeneReport for Unigene cluster for FANCD2 Gene:
Hs.208388mRNA Expression by UniProt/SwissProt for FANCD2 Gene:
Q9BXW9-FACD2_HUMANEvidence on tissue expression from TISSUES for FANCD2 Gene
- Blood(4.3)
- Lung(4.3)
- Bone marrow(2.3)
Phenotype-based relationships between genes and organs from Gene ORGANizer for FANCD2 Gene
- ectoderm
- endoderm
- mesoderm
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- lymphatic
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
- brain
- cerebellum
- cranial nerve
- ear
- eye
- eyelid
- face
- head
- neck
- nose
- outer ear
- pituitary gland
- skull
- breast
- esophagus
- heart
- lung
- rib
- rib cage
- intestine
- kidney
- large intestine
- liver
- stomach
- anus
- ovary
- pelvis
- penis
- prostate
- rectum
- testicle
- ureter
- uterus
- vagina
- vulva
- arm
- digit
- finger
- forearm
- hand
- radius
- upper limb
- blood
- blood vessel
- bone marrow
- coagulation system
- hair
- peripheral nervous system
- red blood cell
- skin
- spinal column
- vertebrae
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for FANCD2
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for FANCD2 Gene
Orthologs for FANCD2 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FANCD2 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | FANCD2 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | FANCD2 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Fancd2 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Fancd2 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | FANCD2 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| chicken (Gallus gallus) |
Aves | FANCD2 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | FANCD2 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | fancd2 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | fancd2 34 35 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Fancd2 34 35 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011769 34 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT4G14970 34 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os07g0154400 34 |
|
- Species where no ortholog for FANCD2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for FANCD2 Gene
Pseudogenes.org Pseudogenes for FANCD2 Gene
No data available for Paralogs for FANCD2 Gene
Variants for FANCD2 Gene
| SNP ID | Clin | Chr 03 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs121917786 | Pathogenic, Fanconi anemia complementation group D2 (FANCD2) [MIM:227646] | 10,090,315(+) | CTTCC(A/G)TGTGA | intron-variant, reference, missense | |
| rs121917787 | Pathogenic, Fanconi anemia complementation group D2 (FANCD2) [MIM:227646] | 10,043,065(+) | AGCTT(C/T)GGGAG | reference, missense | |
| rs764507146 | Fanconi anemia complementation group D2 (FANCD2) [MIM:227646] | 10,034,797(+) | AAGCC(A/G)GGTGT | reference, missense | |
| rs121917788 | Pathogenic | 10,043,119(+) | CTTCC(C/T)AAGTA | reference, stop-gained | |
| rs766567785 | Pathogenic | 10,067,267(+) | CACTC(A/G)GTTAA | reference, missense |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv762e201 | CNV | deletion | 23290073 |
| esv2724891 | CNV | deletion | 23290073 |
| esv4117 | OTHER | complex | 18987735 |
| nsv1013567 | CNV | loss | 25217958 |
| nsv1013605 | CNV | loss | 25217958 |
| nsv1073204 | CNV | deletion | 25765185 |
| nsv1078896 | OTHER | inversion | 25765185 |
| nsv1121603 | CNV | deletion | 24896259 |
| nsv1136706 | CNV | deletion | 24896259 |
| nsv1139088 | CNV | deletion | 24896259 |
| nsv436362 | CNV | deletion | 17901297 |
| nsv436869 | CNV | insertion | 17901297 |
| nsv521391 | CNV | loss | 19592680 |
| nsv523205 | CNV | loss | 19592680 |
| nsv589648 | CNV | loss | 21841781 |
| nsv963293 | CNV | duplication | 23825009 |
| nsv966989 | CNV | duplication | 23825009 |
Relevant External Links for FANCD2 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FANCD2 Gene
Disorders for FANCD2 Gene
(13) MalaCards diseases for FANCD2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| fanconi anemia, complementation group d2 |
|
|
| fanconi anemia, complementation group a |
|
|
| fancd2-related fanconi anemia |
|
|
| ovarian solid teratoma |
|
|
| fanconi anemia, complementation group e |
|
|
UniProtKB/Swiss-Prot
FACD2_HUMAN- Fanconi anemia complementation group D2 (FANCD2) [MIM:227646]: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. {ECO:0000269 PubMed:11239453}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for FANCD2
No data available for Genatlas for FANCD2 Gene
Publications for FANCD2 Gene
- The Fanconi anemia family of genes and its correlation with breast cancer susceptibility and breast cancer features. (PMID: 19536649) Barroso E. … Ribas G. (Breast Cancer Res. Treat. 2009) 3 22 46 64
- Cigarette smoke induces genetic instability in airway epithelial cells by suppressing FANCD2 expression. (PMID: 18475298) Hays L.E. … Bagby G.C. (Br. J. Cancer 2008) 2 3 22 64
- FANCI is a second monoubiquitinated member of the Fanconi anemia pathway. (PMID: 17460694) Sims A.E. … Huang T.T. (Nat. Struct. Mol. Biol. 2007) 3 4 22 64
- Regulated interaction of the Fanconi anemia protein, FANCD2, with chromatin. (PMID: 15454491) Montes de Oca R. … D'Andrea A.D. (Blood 2005) 3 4 22 64
- The Fanconi anemia pathway is required for the DNA replication stress response and for the regulation of common fragile site stability. (PMID: 15661754) Howlett N.G. … Glover T.W. (Hum. Mol. Genet. 2005) 3 4 22 64
Products for FANCD2 Gene
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- Mammalian expression: PiggyBac
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- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for FANCD2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
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- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
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- (37) SGD
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- (40) Pseudogene
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- (43) GenAtlas
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- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
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- (62) NCBI
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- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
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- (92) Vector BioLabs
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- (98) BioGPS
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- (104) Addgene
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- (107) NONCODE
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- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
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- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer




