Aliases for ZNF496 Gene
Aliases for ZNF496 Gene
External Ids for ZNF496 Gene
- HGNC: 23713
- Entrez Gene: 84838
- Ensembl: ENSG00000162714
- OMIM: 613911
- UniProtKB: Q96IT1
Previous GeneCards Identifiers for ZNF496 Gene
- GC01M244408
- GC01M243787
- GC01M245527
- GC01M247460
- GC01M217858
Summaries for ZNF496 Gene
GeneCards Summary for ZNF496 Gene
ZNF496 (Zinc Finger Protein 496) is a Protein Coding gene. Diseases associated with ZNF496 include Sotos Syndrome 1. Among its related pathways are Gene Expression. GO annotations related to this gene include nucleic acid binding and RNA polymerase II transcription factor activity, sequence-specific DNA binding. An important paralog of this gene is ZNF202.
UniProtKB/Swiss-Prot for ZNF496 Gene
-
DNA-binding transcription factor that can both act as an activator and a repressor.
No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZNF496 Gene
Genomics for ZNF496 Gene
Regulatory Elements for ZNF496 Gene
Enhancers for ZNF496 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH01G247294 | 1 | ENCODE dbSUPER | 38.4 | +37.1 | 37098 | 3.7 | PKNOX1 CBX3 TAL1 TEAD4 ZNF316 POLR2A FOS MAFK L3MBTL2 BHLHE40 | ZNF496 ZNF669 ENSG00000259865 OR1C1 ENSG00000202079 |
| GH01G247330 | 1.3 | ENCODE dbSUPER | 26.8 | +1.4 | 1425 | 3.4 | HDGF PKNOX1 MLX CREB3L1 AGO1 ARID4B SIN3A DMAP1 YY1 ZNF766 | ZNF496 ENSG00000202079 |
| GH01G247322 | 1.1 | Ensembl ENCODE dbSUPER | 28.6 | +10.3 | 10304 | 1.6 | CTCF IKZF1 SMC3 TRIM22 REST RAD21 | ZNF496 ENSG00000259865 OR1C1 ENSG00000202079 |
| GH01G247356 | 1.1 | Ensembl ENCODE | 20.4 | -24.1 | -24100 | 1.9 | HDAC1 PKNOX1 ATF1 KLF17 BMI1 ELK1 FOS RELB ETV6 IKZF2 | ZNF496 ZNF669 NLRP3 |
| GH01G247077 | 1.1 | ENCODE | 20 | +254.6 | 254647 | 3.0 | PKNOX1 FOXA2 MLX CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZBTB7B YY1 | ZNF669 ZNF496 ZNF670-ZNF695 AHCTF1 ZNF695 ZNF670 LOC100420880 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around ZNF496 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the ZNF496 gene promoter:
Regulatory Element Products
Genomic Location for ZNF496 Gene
- Chromosome:
- 1
- Start:
- 247,297,412 bp from pter
- End:
- 247,333,376 bp from pter
- Size:
- 35,965 bases
- Orientation:
- Minus strand
Genomic View for ZNF496 Gene
Genes around ZNF496 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q44 by Ensembl
- 1q44 by Entrez Gene
- 1q44 by HGNC
ZNF496 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 ZNF496 Gene
Proteins for ZNF496 Gene
-
Protein details for ZNF496 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q96IT1-ZN496_HUMAN
- Recommended name:
- Zinc finger protein 496
- Protein Accession:
- Q96IT1
- Q8TBS2
Protein attributes for ZNF496 Gene
- Size:
- 587 amino acids
- Molecular mass:
- 66908 Da
- Quaternary structure:
-
- Interacts (via zinc-fingers) with JARID2. Interacts with NSD1 (By similarity).
Protein Expression for ZNF496 Gene
Post-translational modifications for ZNF496 Gene
Other Protein References for ZNF496 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for ZNF496
-
Abcam antibodies for ZNF496
- Invitrogen Antibodies for ZNF496
- antibodies-online Antibodies for ZNF496: See all 24
- GeneTex ZNF496 antibody for ZNF496
Protein Products
-
OriGene Purified Proteins for ZNF496
- Search Origene for MassSpec and Protein Over-expression Lysates for ZNF496
- Origene Custom Protein Services for ZNF496
- antibodies-online Proteins for ZNF496: See all 7
- Search antibodies-online for peptides
- Search GeneTex for Proteins for ZNF496
-
Abcam proteins for ZNF496
No data available for DME Specific Peptides for ZNF496 Gene
Domains & Families for ZNF496 Gene
Gene Families for ZNF496 Gene
Protein Domains for ZNF496 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for ZNF496 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q96IT1UniProtKB/Swiss-Prot:
ZN496_HUMAN :- The C2H2-type zinc finger 1, also named C2HR, mediates the interaction with NSD1.
- Belongs to the krueppel C2H2-type zinc-finger protein family.
- Domain:
-
- The C2H2-type zinc finger 1, also named C2HR, mediates the interaction with NSD1.
- Family:
-
- Belongs to the krueppel C2H2-type zinc-finger protein family.
Function for ZNF496 Gene
Molecular function for ZNF496 Gene
- UniProtKB/Swiss-Prot Function:
- DNA-binding transcription factor that can both act as an activator and a repressor.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding | IBA | -- |
| GO:0003676 | nucleic acid binding | IEA | -- |
| GO:0003677 | DNA binding | ISS | -- |
| GO:0003700 | transcription factor activity, sequence-specific DNA binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 16189514 |
Phenotypes for ZNF496 Gene
- MGI mutant phenotypes for ZNF496:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for ZNF496:
-
- Increased vaccinia virus (VACV) infection
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Resistant to vaccinia virus (VACV-A4L) infection
- Increased shRNA abundance (Z-score > 2)
- Decreased Aire reporter expression
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Weakly decreased NFAT1-GFP nuclear translocation
- Decreased shRNA abundance (Z-score < -2)
Animal Models for ZNF496 Gene
- MGI Knock Outs for ZNF496:
-
- Zkscan17 tm1b(EUCOMM)Wtsi
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for ZNF496
-
-
ViGene Biosciences lentiviral particle packaged cDNA for ZNF496 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ZNF496 gene
- Search ViGene Biosciences for ZNF496
CRISPR Products
-
OriGene CRISPR knockouts for ZNF496
-
Applied Biological Materials CRISPR for ZNF496
-
Santa Cruz Biotechnology (SCBT) CRISPR for ZNF496
- GenScript: Design CRISPR guide RNA sequences for ZNF496
miRNA for ZNF496 Gene
- miRTarBase miRNAs that target ZNF496
miRNA Products
- Search ViGene Biosciences for ZNF496
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for ZNF496
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-
ViGene Biosciences ready-to-package AAV shRNAs for ZNF496 gene
Clone Products
-
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-
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
Cell Line Products
-
Horizon Cell Lines for ZNF496
-
ViGene Biosciences adenoviral particle packaged cDNA for ZNF496 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for ZNF496 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ZNF496 gene
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ZNF496 Gene
Localization for ZNF496 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ZNF496 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| golgi apparatus | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005622 | intracellular | IEA | -- |
| GO:0005634 | nucleus | ISS,IEA | -- |
| GO:0016604 | nuclear body | IEA | -- |
Pathways & Interactions for ZNF496 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Gene Expression |
.48
|
|
Pathways by source for ZNF496 Gene
2 Reactome pathways for ZNF496 Gene
Interacting Proteins for ZNF496 Gene
Selected Interacting proteins:
ENSP00000294753
Q96IT1-ZN496_HUMAN
for ZNF496 Gene via
STRING
UniProtKB
IID
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription from RNA polymerase II promoter | IEA | -- |
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0045893 | positive regulation of transcription, DNA-templated | ISS | -- |
No data available for SIGNOR curated interactions for ZNF496 Gene
Transcripts for ZNF496 Gene
mRNA/cDNA for ZNF496 Gene
- (19) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (180) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ZNF496 Gene
CRISPR Products
-
OriGene CRISPR knockouts for ZNF496
-
Applied Biological Materials CRISPR for ZNF496
-
Santa Cruz Biotechnology (SCBT) CRISPR for ZNF496
- GenScript: Design CRISPR guide RNA sequences for ZNF496
miRNA Products
- Search ViGene Biosciences for ZNF496
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for ZNF496
- Browse OriGene Inhibitory RNA Products For ZNF496
-
ViGene Biosciences ready-to-package AAV shRNAs for ZNF496 gene
Clone Products
-
OriGene ORF clones in human for ZNF496
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for ZNF496
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ZNF496
-
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
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | · | 7c | · | 7d | ^ | 8 | ^ | 9a | · | 9b | · | 9c | ^ | 10a | · | 10b | ^ | 11a | · | 11b | · | 11c | ^ | 12a | · | 12b | · | 12c | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: |
| ExUns: | 13 | ^ | 14 | ^ | 15a | · | 15b | · | 15c |
|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||
| SP2: | - | - | |||||||
| SP3: | |||||||||
| SP4: | |||||||||
| SP5: | |||||||||
| SP6: | - | ||||||||
| SP7: | |||||||||
| SP8: | |||||||||
| SP9: | |||||||||
| SP10: | |||||||||
| SP11: | - | - |
Expression for ZNF496 Gene
This gene is overexpressed in Tlymphocyte (50.5), Ovary (9.6), and Frontal cortex (8.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ZNF496 Gene
NURSA nuclear receptor signaling pathways regulating expression of ZNF496 Gene:
ZNF496SOURCE GeneReport for Unigene cluster for ZNF496 Gene:
Hs.654803Evidence on tissue expression from TISSUES for ZNF496 Gene
- Lung(4.2)
- Intestine(4.1)
Primer Products
-
OriGene qPCR primer pairs and template standards for ZNF496
-
OriGene qPCR primer pairs for ZNF496
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZNF496 Gene
Orthologs for ZNF496 Gene
This gene was present in the common ancestor of mammals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ZNF496 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | ZNF496 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | ZNF496 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Zkscan17 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Zfp496 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ZNF496 35 |
|
OneToOne |
- Species where no ortholog for ZNF496 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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)
- chicken (Gallus gallus)
- 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)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- lizard (Anolis carolinensis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- 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)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
- zebrafish (Danio rerio)
Paralogs for ZNF496 Gene
Variants for ZNF496 Gene
| SNP ID | Clin | Chr 01 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000066348 | -- | 247,329,795(+) | AAGAT(C/G)CCCTC | intron-variant | |
| rs1000069200 | -- | 247,327,912(+) | AAGGG(C/T)GCTGG | intron-variant, upstream-variant-2KB | |
| rs1000087149 | -- | 247,330,431(+) | TTCCT(C/T)GGCCA | intron-variant | |
| rs1000145828 | -- | 247,311,263(+) | GGCGT(A/G)GTGGT | intron-variant, upstream-variant-2KB | |
| rs1000325762 | -- | 247,318,466(+) | GCAAA(-/G)GAAGA | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv23e215 | CNV | deletion | 23714750 |
| dgv61e201 | CNV | deletion | 23290073 |
| dgv897n54 | CNV | gain+loss | 21841781 |
| dgv898n54 | CNV | loss | 21841781 |
| dgv899n54 | CNV | gain | 21841781 |
| esv21506 | CNV | loss | 19812545 |
| esv2335854 | CNV | deletion | 18987734 |
| esv33129 | CNV | gain+loss | 17666407 |
| esv3360419 | CNV | insertion | 20981092 |
| esv3589514 | CNV | gain | 21293372 |
| esv4468 | CNV | loss | 18987735 |
| esv992675 | CNV | deletion | 20482838 |
| nsv1145418 | CNV | deletion | 24896259 |
| nsv509790 | CNV | insertion | 20534489 |
| nsv833126 | CNV | loss | 17160897 |
| nsv833137 | CNV | gain | 17160897 |
Residual Variation Intolerance Score:
19.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.35;
41.84% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for ZNF496 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- ZNF496
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZNF496 Gene
Disorders for ZNF496 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| sotos syndrome 1 |
|
|
Search ZNF496 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for ZNF496
No data available for UniProtKB/Swiss-Prot and Genatlas for ZNF496 Gene
Publications for ZNF496 Gene
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64
- Widespread macromolecular interaction perturbations in human genetic disorders. (PMID: 25910212) Sahni N. … Vidal M. (Cell 2015) 3 64
- The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
- A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64
Products for ZNF496 Gene
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- Invitrogen Antibodies for ZNF496
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- antibodies-online Antibodies for ZNF496: See all 24
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- GeneTex ZNF496 antibody for ZNF496
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- ViGene Biosciences adenoviral particle packaged cDNA for ZNF496 gene
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- Horizon Cell Lines for ZNF496
- Cyagen custom Knockout/knockin (KOKI) mouse models for ZNF496
- VectorBuilder custom plasmid, inducible vectors for ZNF496
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ZNF496
- 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 ZNF496 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
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