Aliases for PNP Gene
Aliases for PNP Gene
External Ids for PNP Gene
- HGNC: 7892
- Entrez Gene: 4860
- Ensembl: ENSG00000198805
- OMIM: 164050
- UniProtKB: P00491
Previous HGNC Symbols for PNP Gene
- NP
Previous GeneCards Identifiers for PNP Gene
- GC14P020008
- GC14P021021
- GC14P001059
Summaries for PNP Gene
-
This gene encodes an enzyme which reversibly catalyzes the phosphorolysis of purine nucleosides. The enzyme is trimeric, containing three identical subunits. Mutations which result in nucleoside phosphorylase deficiency result in defective T-cell (cell-mediated) immunity but can also affect B-cell immunity and antibody responses. Neurologic disorders may also be apparent in patients with immune defects. A known polymorphism at aa position 51 that does not affect enzyme activity has been described. A pseudogene has been identified on chromosome 2. [provided by RefSeq, Jul 2008]
GeneCards Summary for PNP Gene
PNP (Purine Nucleoside Phosphorylase) is a Protein Coding gene. Diseases associated with PNP include Immunodeficiency Due To Purine Nucleoside Phosphorylase Deficiency and Adenosine Deaminase Deficiency. Among its related pathways are Purine metabolism (REACTOME) and NAD metabolism. GO annotations related to this gene include drug binding and nucleoside binding.
UniProtKB/Swiss-Prot for PNP Gene
-
The purine nucleoside phosphorylases catalyze the phosphorolytic breakdown of the N-glycosidic bond in the beta-(deoxy)ribonucleoside molecules, with the formation of the corresponding free purine bases and pentose-1-phosphate.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PNP Gene
Genomics for PNP Gene
Regulatory Elements for PNP Gene
Enhancers for PNP Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around PNP on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for PNP Gene
- Chromosome:
- 14
- Start:
- 20,468,954 bp from pter
- End:
- 20,478,006 bp from pter
- Size:
- 9,053 bases
- Orientation:
- Plus strand
Genomic View for PNP Gene
Genes around PNP on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 14q11.2 by Ensembl
- 14q11.2 by Entrez Gene
- 14q11.2 by HGNC
PNP 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 PNP Gene
Proteins for PNP Gene
-
Protein details for PNP Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P00491-PNPH_HUMAN
- Recommended name:
- Purine nucleoside phosphorylase
- Protein Accession:
- P00491
- B2R8S5
- D3DS00
- Q15160
- Q5PZ03
Protein attributes for PNP Gene
- Size:
- 289 amino acids
- Molecular mass:
- 32118 Da
- Quaternary structure:
-
- Homotrimer.
Protein Expression for PNP Gene
Selected DME Specific Peptides for PNP Gene
- P00491:
-
- RFPAMSDAYDR
- VVTNAAGGLN
- KVTFPVRV
- DAVGMSTVPEVIVA
Post-translational modifications for PNP Gene
Other Protein References for PNP Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for PNP (Purine Nucleoside Phosphorylase/PNP)
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-
Cloud-Clone Corp. Antibodies for PNP
- Invitrogen Antibodies for PNP
- antibodies-online Antibodies for PNP: See all 49
- GeneTex PNP antibody for PNP
-
Santa Cruz Biotechnology (SCBT) Antibodies for PNP
Protein Products
- R&D Systems Proteins and Enzymes for PNP (Purine Nucleoside Phosphorylase/PNP)
-
OriGene Purified Proteins for PNP
- Search Origene for MassSpec and Protein Over-expression Lysates for PNP
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- Sino Biological Recombinant Proteins for PNP
- ProSpec Recombinant Proteins for PNP
-
Cloud-Clone Corp. Proteins for PNP
- antibodies-online Proteins for PNP: See all 16
- Search antibodies-online for peptides
- Search GeneTex for Proteins for PNP
Assay Products
- antibodies-online Kits for PNP: See all 20
Domains & Families for PNP Gene
Protein Domains for PNP Gene
Suggested Antigen Peptide Sequences for PNP Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P00491- Family:
-
- Belongs to the PNP/MTAP phosphorylase family.
No data available for Gene Families for PNP Gene
Function for PNP Gene
Molecular function for PNP Gene
- UniProtKB/Swiss-Prot CatalyticActivity:
- Purine nucleoside + phosphate = purine + alpha-D-ribose 1-phosphate.
- UniProtKB/Swiss-Prot Function:
- The purine nucleoside phosphorylases catalyze the phosphorolytic breakdown of the N-glycosidic bond in the beta-(deoxy)ribonucleoside molecules, with the formation of the corresponding free purine bases and pentose-1-phosphate.
Enzyme Numbers (IUBMB) for PNP Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001882 | nucleoside binding | IDA | 9305962 |
| GO:0002060 | purine nucleobase binding | IDA | 9305962 |
| GO:0003824 | catalytic activity | IEA | -- |
| GO:0004731 | purine-nucleoside phosphorylase activity | IEA,IDA | 3029074 |
| GO:0008144 | drug binding | IDA | 18938130 |
Phenotypes for PNP Gene
- GenomeRNAi human phenotypes for PNP:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for PNP gene
-
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- Search ViGene Biosciences for PNP
CRISPR Products
-
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-
Santa Cruz Biotechnology (SCBT) CRISPR for PNP
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miRNA for PNP Gene
- miRTarBase miRNAs that target PNP
miRNA Products
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Inhibitory RNA Products
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-
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Clone Products
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Cell Line Products
-
Horizon Cell Lines for PNP
-
ViGene Biosciences adenoviral particle packaged cDNA for PNP gene
-
ViGene Biosciences lentiviral particle packaged cDNA for PNP gene
-
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Flow Cytometry Products
No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for PNP Gene
Localization for PNP Gene
Subcellular locations from UniProtKB/Swiss-Prot for PNP Gene
- Cytoplasm, cytoskeleton. Cytoplasm.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| cytosol | 5 |
| cytoskeleton | 3 |
| nucleus | 3 |
| mitochondrion | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005622 | intracellular | IDA | 15047506 |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005737 | cytoplasm | IDA,IEA | 3029074 |
| GO:0005829 | cytosol | TAS | -- |
Pathways & Interactions for PNP Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Purine metabolism (REACTOME) |
.01
|
|
| 2 | Purine metabolism (KEGG) | ||
| 3 | Innate Immune System |
.61
|
|
| 4 | Metabolism |
.37
|
|
| 5 | NAD metabolism |
.42
|
|
Pathways by source for PNP Gene
10 BioSystems pathways for PNP Gene
8 Reactome pathways for PNP Gene
4 KEGG pathways for PNP Gene
2 GeneGo (Thomson Reuters) pathways for PNP Gene
UniProtKB/Swiss-Prot P00491-PNPH_HUMAN
- Pathway: Purine metabolism; purine nucleoside salvage.
Interacting Proteins for PNP Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006139 | nucleobase-containing compound metabolic process | IDA,IEA | 3029074 |
| GO:0006148 | inosine catabolic process | IDA | 16964310 |
| GO:0006195 | purine nucleotide catabolic process | TAS | -- |
| GO:0006738 | nicotinamide riboside catabolic process | IDA | 19001417 |
| GO:0006955 | immune response | IMP | 16930574 |
No data available for SIGNOR curated interactions for PNP Gene
Drugs & Compounds for PNP Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Didanosine | Approved | Pharma | Target | 150 | ||
| Cladribine | Approved, Investigational | Pharma | Target, inducer | Apoptosis inducer in CLL cells | 73 | |
| Adenine | Approved | Nutra | 0 | |||
| Adenosine | Approved, Investigational | Pharma | Agonist | 419 | ||
| Phosphoric acid | Approved | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| deoxyadenosine |
|
958-09-8 | ||||
| deoxyguanosine |
|
961-07-9 | ||||
| purine |
|
120-73-0 | ||||
| ribose 1-phosphate |
|
14075-00-4 | ||||
| xanthosine |
|
146-80-5 |
Transcripts for PNP Gene
mRNA/cDNA for PNP Gene
- (1) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (517) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for PNP Gene
CRISPR Products
-
OriGene CRISPR knockouts for PNP
-
Santa Cruz Biotechnology (SCBT) CRISPR for PNP
- GenScript: Design CRISPR guide RNA sequences for PNP
miRNA Products
- Search ViGene Biosciences for PNP
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for PNP
- Browse OriGene Inhibitory RNA Products For PNP
-
ViGene Biosciences ready-to-package AAV shRNAs for PNP gene
Clone Products
- Sino Biological Human cDNA Clone for PNP
- Sino Biological Human cDNA Clone for PNP
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for PNP
Flow Cytometry Products
Expression for PNP Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Inner Cell Mass (Early Embryonic Tissues)
mRNA differential expression in normal tissues according to GTEx for PNP Gene
This gene is overexpressed in Whole Blood (x4.8).
This gene is overexpressed in Platelet (6.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PNP Gene
NURSA nuclear receptor signaling pathways regulating expression of PNP Gene:
PNPSOURCE GeneReport for Unigene cluster for PNP Gene:
Hs.75514mRNA Expression by UniProt/SwissProt for PNP Gene:
P00491-PNPH_HUMAN
Tissue specificity:
Expressed in red blood cells; overexpressed in red blood cells (cytoplasm) of patients with hereditary non-spherocytic hemolytic anemia of unknown etiology.
Evidence on tissue expression from TISSUES for PNP Gene
- Blood(4.7)
- Liver(4.5)
- Nervous system(3.2)
- Bone marrow(2.7)
- Intestine(2.7)
- Lung(2.4)
- Kidney(2)
- Spleen(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for PNP Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- immune
- lymphatic
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Organs:
Head and neck:
- brain
- ear
- face
- head
- larynx
- middle ear
- neck
- pharynx
- sinus
- skull
Thorax:
- bronchus
- lung
- trachea
Abdomen:
- kidney
- spleen
Pelvis:
- ureter
- urethra
- urinary bladder
Limb:
- lower limb
- upper limb
General:
- blood
- blood vessel
- coagulation system
- lymph node
- red blood cell
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for PNP
-
OriGene qPCR primer pairs and template standards for PNP
Orthologs for PNP Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PNP 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | -- 35 |
|
OneToMany | |
| PNP 34 35 |
|
||||
| rat (Rattus norvegicus) |
Mammalia | Pnp 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Pnp 34 35 |
|
||
| Pnp2 16 35 |
|
||||
| dog (Canis familiaris) |
Mammalia | PNP 34 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| platypus (Ornithorhynchus anatinus) |
Mammalia | PNP 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | PNP 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | PNP 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | pnp 34 |
|
||
| Str.8263 34 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | pnp6 35 |
|
OneToMany | |
| pnp5a 35 |
|
OneToMany | |||
| pnp4a 35 |
|
OneToMany | |||
| pnp5b 35 |
|
OneToMany | |||
| pnp4b 35 |
|
OneToMany | |||
| wufc27g06 34 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005945 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG16758 34 35 |
|
||
| CG18128 35 |
|
OneToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | K02D7.1 34 35 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PNP1 34 35 37 |
|
||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_ACR198W 34 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0C16621g 34 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPAC1805.16c 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.7856 35 |
|
OneToOne |
- Species where no ortholog for PNP was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- 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)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- 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 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)
Paralogs for PNP Gene
Pseudogenes.org Pseudogenes for PNP Gene
No data available for Paralogs for PNP Gene
Variants for PNP Gene
| SNP ID | Clin | Chr 14 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs104894450 | Pathogenic, Purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179] | 20,474,870(+) | TGGAG(A/G)TATCA | reference, missense | |
| rs104894451 | Pathogenic, Purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179] | 20,476,432(+) | ACTTC(A/C/G)AGTCT | reference, missense | |
| rs104894452 | Pathogenic, Purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179] | 20,475,175(+) | CACCT(A/G)TGTGA | reference, missense | |
| rs104894453 | Pathogenic, Purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179] | 20,474,555(+) | TGTAT(A/G)AAGGG | reference, missense | |
| rs104894454 | Pathogenic, Purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179] | 20,475,120(+) | AGAGG(C/G/T)CTCTC | reference, missense |
Residual Variation Intolerance Score:
56% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
8.04;
84.28% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for PNP Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PNP Gene
Disorders for PNP Gene
(19) MalaCards diseases for PNP Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| immunodeficiency due to purine nucleoside phosphorylase deficiency |
|
|
| adenosine deaminase deficiency |
|
|
| lesch-nyhan syndrome |
|
|
| pedophilia |
|
|
| exhibitionism |
|
|
Search PNP in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
PNPH_HUMAN- Purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179]: A disorder that interrupts both the catabolism of inosine into hypoxanthine and guanosine into guanine, and leads to the accumulation of guanosine, inosine, and their deoxified by-products. The main clinical presentation is recurrent infections due to severe T-cell immunodeficiency. Some patients also have neurologic impairment. {ECO:0000269 PubMed:1384322, ECO:0000269 PubMed:3029074, ECO:0000269 PubMed:8931706}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for PNP
No data available for Genatlas for PNP Gene
Publications for PNP Gene
- Genetic variation in genes associated with arsenic metabolism: glutathione S-transferase omega 1-1 and purine nucleoside phosphorylase polymorphisms in European and indigenous Americans. (PMID: 12928150) Yu L. … Klimecki W.T. (Environ. Health Perspect. 2003) 3 4 22 64
- Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient. (PMID: 8931706) Pannicke U. … Schwarz K. (Hum. Genet. 1996) 3 4 22 64
- Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency. (PMID: 1384322) Aust M.R. … Markert M.L. (Am. J. Hum. Genet. 1992) 3 4 22 64
- Three-dimensional structure of human erythrocytic purine nucleoside phosphorylase at 3.2-A resolution. (PMID: 2104852) Ealick S.E. … Bugg C.E. (J. Biol. Chem. 1990) 3 4 22 64
- Human purine nucleoside phosphorylase cDNA sequence and genomic clone characterization. (PMID: 6087295) Williams S.R. … Martin D.W. Jr. (Nucleic Acids Res. 1984) 2 3 4 64
Products for PNP Gene
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- Cloud-Clone Corp. Antibodies for PNP
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- Addgene plasmids for PNP
- antibodies-online Antibodies for PNP: See all 49
- antibodies-online Kits for PNP: See all 20
- antibodies-online Proteins for PNP: See all 16
- Search antibodies-online for peptides
- GeneTex PNP antibody for PNP
- Search GeneTex for Proteins for PNP
- ViGene Biosciences adenoviral particle packaged cDNA for PNP gene
- ViGene Biosciences lentiviral particle packaged cDNA for PNP gene
- ViGene Biosciences ready-to-package AAV shRNAs for PNP gene
- Search ViGene Biosciences for PNP
- Santa Cruz Biotechnology (SCBT) Antibodies for PNP
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- Santa Cruz Biotechnology (SCBT) CRISPR for PNP
- Horizon Cell Lines for PNP
- Cyagen custom Knockout/knockin (KOKI) mouse models for PNP
- VectorBuilder custom plasmid, inducible vectors for PNP
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PNP
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for PNP 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
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
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