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The protein encoded by this gene is a cyclin-dependent kinase 2 (CDK2) -associated protein which is thought to negatively regulate CDK2 activity by sequestering monomeric CDK2, and targeting CDK2 for proteolysis. This protein was found to also interact with DNA polymerase alpha/primase and mediate the phosphorylation of the large p180 subunit, which suggests a regulatory role i... See more...
Aliases for CDK2AP1 Gene
Aliases for CDK2AP1 Gene
External Ids for CDK2AP1 Gene
- HGNC: 14002
- Entrez Gene: 8099
- Ensembl: ENSG00000111328
- OMIM: 602198
- UniProtKB: O14519
Previous GeneCards Identifiers for CDK2AP1 Gene
- GC12P122351
- GC12M123446
- GC12M123553
- GC12M122183
- GC12M122270
- GC12M123745
- GC12M120706
Summaries for CDK2AP1 Gene
-
The protein encoded by this gene is a cyclin-dependent kinase 2 (CDK2) -associated protein which is thought to negatively regulate CDK2 activity by sequestering monomeric CDK2, and targeting CDK2 for proteolysis. This protein was found to also interact with DNA polymerase alpha/primase and mediate the phosphorylation of the large p180 subunit, which suggests a regulatory role in DNA replication during the S-phase of the cell cycle. This protein also forms a core subunit of the nucleosome remodeling and histone deacetylation (NURD) complex that epigenetically regulates embryonic stem cell differentiation. This gene thus plays a role in both cell-cycle and epigenetic regulation. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012]
GeneCards Summary for CDK2AP1 Gene
CDK2AP1 (Cyclin Dependent Kinase 2 Associated Protein 1) is a Protein Coding gene. Diseases associated with CDK2AP1 include Oral Cancer and Campylobacteriosis. Gene Ontology (GO) annotations related to this gene include DNA polymerase binding. An important paralog of this gene is CDK2AP2.
UniProtKB/Swiss-Prot Summary for CDK2AP1 Gene
-
specific inhibitor of the cell-cycle kinase CDK2.
Additional gene information for CDK2AP1 Gene
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CDK2AP1 Gene
Genomics for CDK2AP1 Gene
GeneHancer (GH) Regulatory Elements for CDK2AP1 Gene
Promoters and enhancers for CDK2AP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around CDK2AP1 on UCSC Golden Path with GeneCards custom track
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CDK2AP1
- Top Transcription factor binding sites by QIAGEN in the CDK2AP1 gene promoter:
-
- CP2
- E47
- GATA-1
- ITF-2
- STAT1alpha
- STAT1beta
- STAT2
- Tal-1
- Tal-1beta
- TBP
Genomic Locations for CDK2AP1 Gene
Genomic Locations for CDK2AP1 Gene
- chr12:123,250,112-123,272,334
- (GRCh38/hg38)
- Size:
- 22,223 bases
- Orientation:
- Minus strand
- chr12:123,745,528-123,756,881
- (GRCh37/hg19)
- Size:
- 11,354 bases
- Orientation:
- Minus strand
Genomic View for CDK2AP1 Gene
Genes around CDK2AP1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12q24.31 by HGNC
- 12q24.31 by Entrez Gene
- 12q24.31 by Ensembl
CDK2AP1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CDK2AP1 Gene
Proteins for CDK2AP1 Gene
-
Protein details for CDK2AP1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O14519-CDKA1_HUMAN
- Recommended name:
- Cyclin-dependent kinase 2-associated protein 1
- Protein Accession:
- O14519
- F5GYA4
Protein attributes for CDK2AP1 Gene
- Size:
- 115 amino acids
- Molecular mass:
- 12365 Da
- Quaternary structure:
-
- Homodimer (PubMed:22427660). Interacts with monomeric unphosphorylated CDK2 (By similarity). Interacts with CDK2AP2 (PubMed:14985111).
Protein Expression for CDK2AP1 Gene
Post-translational modifications for CDK2AP1 Gene
- Phosphorylated in vitro by IKBKE at Ser-46.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for CDK2AP1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ CDKAP1 Antibody
- Creative Diagnostics Anti-CDK2AP1 (aa 66-115) polyclonal antibody
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-
Abcam antibodies for CDK2AP1
- Invitrogen Antibodies for CDK2AP1 (AFLGC-CDK2AP1)
-
Biorbyt antibodies for CDK2AP1
-
Boster Bio Antibodies for CDK2AP1
-
Santa Cruz Biotechnology (SCBT) Antibodies for CDK2AP1
Protein Products
-
OriGene Purified Proteins for CDK2AP1
- Search Origene for MassSpec and Protein Over-expression Lysates for CDK2AP1
- Origene Custom Protein Services for CDK2AP1
- ProSpec Recombinant Proteins for CDK2AP1
-
ProSci Proteins for CDK2AP1
-
Abcam proteins for CDK2AP1
Assay Products
- antibodies-online: Show 4 available CDK2AP1 Elisa Kits ranked by validation data
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-
Quality Products:
No data available for DME Specific Peptides for CDK2AP1 Gene
Domains & Families for CDK2AP1 Gene
Gene Families for CDK2AP1 Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Suggested Antigen Peptide Sequences for CDK2AP1 Gene
- GenScript: Design optimal peptide antigens:
-
- Putative oral cancer suppressor (CDKA1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O14519- Family:
-
- Belongs to the CDK2AP family.
Function for CDK2AP1 Gene
Molecular function for CDK2AP1 Gene
- UniProtKB/Swiss-Prot Function:
- specific inhibitor of the cell-cycle kinase CDK2.
Phenotypes From GWAS Catalog for CDK2AP1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 14985111 |
| GO:0070182 | DNA polymerase binding | IPI | 9506968 |
Phenotypes for CDK2AP1 Gene
- MGI mutant phenotypes for CDK2AP1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for CDK2AP1:
-
- Decreased viability with cisplatin
- Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation
- Decreased viability
- no effect
- Decreased viability after sindbis virus (SIN) dsTE12Q infection
- Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization
- Decreased mitophagy mCherry-Parkin protein expression after carbonyl cyanide m-chlorphenylhydrazone (CCCP) stimulation
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
Animal Models for CDK2AP1 Gene
- MGI Knock Outs for CDK2AP1:
-
- Cdk2ap1 Cdk2ap1<tm1Dtw>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CDK2AP1 - Select products 50% OFF >
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-
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- genomics-online: gRNA clones - Search results for available CDK2AP1 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for CDK2AP1
miRNA for CDK2AP1 Gene
- miRTarBase miRNAs that target CDK2AP1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CDK2AP1
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Clone Products
- Applied Biological Materials (abm): Clones for CDK2AP1 - Select products 50% OFF >
- * CDK2AP1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
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- Sino Biological Human cDNA Clone for CDK2AP1
- Addgene plasmids for CDK2AP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CDK2AP1
- genomics-online: cdna clones - Search results for available CDK2AP1 gene related products
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Cell Line Products
-
Horizon Cell Lines for CDK2AP1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CDK2AP1 Gene
Localization for CDK2AP1 Gene
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 4 |
| mitochondrion | 3 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA | 9506968 |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005829 | cytosol | IDA | -- |
| GO:0048471 | perinuclear region of cytoplasm | IDA | 9506968 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for CDK2AP1 Gene
Pathways & Interactions for CDK2AP1 Gene
Pathways by source for CDK2AP1 Gene
1 GeneTex pathway for CDK2AP1 Gene
Interacting Proteins for CDK2AP1 Gene
Selected Interacting proteins:
O14519-CDKA1_HUMAN
ENSP00000261692
for CDK2AP1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for CDK2AP1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001934 | positive regulation of protein phosphorylation | IDA | 9506968 |
| GO:0006261 | DNA-dependent DNA replication | NAS | 9506968 |
| GO:0007049 | cell cycle | IEA | -- |
No data available for SIGNOR curated interactions for CDK2AP1 Gene
Transcripts for CDK2AP1 Gene
mRNA/cDNA for CDK2AP1 Gene
- 3 REFSEQ mRNAs :
- 10 NCBI additional mRNA sequence :
- 12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000261692 1346 bps (ENST00000261692.7)
- ENST00000535796 344 bps (ENST00000535796.1)
- ENST00000535979 1281 bps (ENST00000535979.5)
- ENST00000538446 1161 bps (ENST00000538446.5)
- ENST00000541002 1110 bps (ENST00000541002.7)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CDK2AP1 - Select products 50% OFF >
- * CDK2AP1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CDK2AP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CDK2AP1
- genomics-online: gRNA clones - Search results for available CDK2AP1 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for CDK2AP1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CDK2AP1
- Browse OriGene Inhibitory RNA Products For CDK2AP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDK2AP1
- genomics-online: shRNA clones - Search results for available CDK2AP1 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for CDK2AP1 - Select products 50% OFF >
- * CDK2AP1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for CDK2AP1
- Addgene plasmids for CDK2AP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CDK2AP1
- genomics-online: cdna clones - Search results for available CDK2AP1 gene related products
- orf clones - Search results for available CDK2AP1 gene related products
Relevant External Links for CDK2AP1 Gene
- GeneLoc Exon Structure for
- CDK2AP1
Expression for CDK2AP1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
-
Uterus (Reproductive System)
-
Colon (Gastrointestinal Tract)
-
Prostate (Endocrine System)
-
Placenta (Extraembryonic Tissues)
-
Gall Bladder (Hepatobiliary System)
-
Lung (Respiratory System)
-
Kidney (Urinary System)
-
Testis (Reproductive System)
-
Adrenal Gland (Endocrine System)
-
Esophagus (Gastrointestinal Tract)
-
Adipose (Muscoskeletal System)
This gene is overexpressed in Fetal ovary (50.5) and Peripheral blood mononuclear cells (13.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CDK2AP1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CDK2AP1
SOURCE GeneReport for Unigene cluster for CDK2AP1 Gene:
Hs.433201Evidence on tissue expression from TISSUES for CDK2AP1 Gene
- Skin(4.4)
- Nervous system(3)
- Bone(2.2)
- Intestine(2.2)
Primer Products
-
OriGene qPCR primer pairs for CDK2AP1
-
OriGene qPCR primer pairs and template standards for CDK2AP1
- genomics-online: primer clones - Search results for available CDK2AP1 gene related products
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CDK2AP1 Gene
Orthologs for CDK2AP1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CDK2AP1 31 30 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Gm12184 31 |
|
OneToMany | |
| Cdk2ap1 17 31 30 |
|
||||
| dog (Canis familiaris) |
Mammalia | CDK2AP1 31 30 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | CDK2AP1 31 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | CDK2AP1 31 30 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Cdk2ap1 30 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | CDK2AP1 31 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CDK2AP1 31 30 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CDK2AP1 31 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cdk2ap1 30 |
|
||
| Str.6181 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | cdk2ap1-prov 30 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC100535265 30 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG18292 31 |
|
OneToMany |
- Species where no ortholog for CDK2AP1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- 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 (Oryza sativa)
- 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)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for CDK2AP1 Gene
- ENSEMBL:
- Gene Tree for CDK2AP1 (if available)
- TreeFam:
- Gene Tree for CDK2AP1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CDK2AP1: view image
Paralogs for CDK2AP1 Gene
(2) SIMAP similar genes for CDK2AP1 Gene using alignment to 2 proteins:
- CDKA1_HUMAN
- F5GZF0_HUMAN
Pseudogenes.org Pseudogenes for CDK2AP1 Gene
Variants for CDK2AP1 Gene
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv884n106 | CNV | deletion | 24896259 |
| nsv1070138 | CNV | deletion | 25765185 |
| nsv826532 | CNV | gain | 20364138 |
Residual Variation Intolerance Score:
58.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.25;
5.52% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CDK2AP1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- CDK2AP1
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDK2AP1 Gene
Disorders for CDK2AP1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| oral cancer |
|
|
| campylobacteriosis |
|
|
| salmonellosis |
|
|
Search CDK2AP1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for CDK2AP1
No data available for UniProtKB/Swiss-Prot and Genatlas for CDK2AP1 Gene
Publications for CDK2AP1 Gene
- Cloning, mapping, expression, function, and mutation analyses of the human ortholog of the hamster putative tumor suppressor gene Doc-1. (PMID: 9506968) Tsuji T … Wong DT (The Journal of biological chemistry 1998) 2 3 4 23 54
- Isolation, mapping and mutation analysis of a human cDNA homologous to the doc-1 gene of the Chinese hamster, a candidate tumor suppressor for oral cancer. (PMID: 9331572) Daigo Y … Nakamura Y (Genes, chromosomes & cancer 1997) 2 3 4 54
- Human cyclin-dependent kinase 2-associated protein 1 (CDK2AP1) is dimeric in its disulfide-reduced state, with natively disordered N-terminal region. (PMID: 22427660) Ertekin A … Montelione GT (The Journal of biological chemistry 2012) 3 4 54
- Interaction of the CDK2-associated protein-1, p12(DOC-1/CDK2AP1), with its homolog, p14(DOC-1R). (PMID: 14985111) Buajeeb W … Wong DT (Biochemical and biophysical research communications 2004) 3 4 54
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
ExternalLinks
Products for CDK2AP1 Gene
- Custom Antibody Services
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- OriGene qPCR primer pairs for CDK2AP1
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- Addgene plasmids for CDK2AP1
- antibodies-online: Show 15 available CDK2AP1 Antibodies ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for CDK2AP1
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- Custom Antibody Services
- ProSci Proteins for CDK2AP1
- Horizon Cell Lines for CDK2AP1
- genomics-online: cdna clones - Search results for available CDK2AP1 gene related products
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- Boster Bio Antibodies for CDK2AP1
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Sources for CDK2AP1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) H-invDB
- (47) HORDE
- (48) HUGE
- (49) IMGT
- (50) Leiden
- (51) miRBase
- (52) DME
- (53) OriGene
- (54) PubMed
- (55) R&D Systems
- (56) TGDB
- (57) Tocris
- (58) Abcam
- (59) Novus Biologicals
- (60) ProSpec
- (61) Sino Biological
- (62) GenScript
- (63) Qiagen
- (64) OCA
- (65) Proteopedia
- (66) MOPED
- (67) neXtProt
- (68) Reactome
- (69) GeneGo (Thomson Reuters)
- (70) DISEASES
- (71) SIMAP
- (72) GenomeRNAi
- (73) LifeMap
- (74) miRTarBase
- (75) MalaCards
- (76) Invitrogen
- (77) BitterDB
- (78) ESI-BIO
- (79) RefSeq
- (80) BioSystems
- (81) MaxQB
- (82) IUPHAR
- (83) BioGPS
- (84) Illumina
- (85) COMPARTMENTS
- (86) HOMER
- (87) PaxDb
- (88) ApexBio
- (89) Addgene
- (90) antibodies-online
- (91) CYP
- (92) NONCODE
- (93) TreeFam
- (94) PathCards
- (95) GeneReviews
- (96) GeneTex
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