Aliases for EVPL Gene
Aliases for EVPL Gene
External Ids for EVPL Gene
- HGNC: 3503
- Entrez Gene: 2125
- Ensembl: ENSG00000167880
- OMIM: 601590
- UniProtKB: Q92817
Previous GeneCards Identifiers for EVPL Gene
- GC17P073900
- GC17M077029
- GC17M074467
- GC17M074600
- GC17M071514
- GC17M074002
- GC17M069428
Summaries for EVPL Gene
-
This gene encodes a member of the plakin family of proteins that forms a component of desmosomes and the epidermal cornified envelope. This gene is located in the tylosis oesophageal cancer locus on chromosome 17q25, and its deletion is associated with both familial and sporadic forms of oesophageal squamous cell carcinoma. Patients suffering from the autoimmune mucocutaneous disorder, paraneoplastic pemphigus, develop antibodies against the encoded protein. [provided by RefSeq, Jul 2016]
GeneCards Summary for EVPL Gene
EVPL (Envoplakin) is a Protein Coding gene. Diseases associated with EVPL include Paraneoplastic Pemphigus and Pemphigus. Among its related pathways are Keratinization and Developmental Biology. Gene Ontology (GO) annotations related to this gene include structural molecule activity and intermediate filament binding. An important paralog of this gene is PPL.
UniProtKB/Swiss-Prot for EVPL Gene
-
Component of the cornified envelope of keratinocytes. May link the cornified envelope to desmosomes and intermediate filaments.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EVPL Gene
Genomics for EVPL Gene
GeneHancer (GH) Regulatory Elements for EVPL Gene
Promoters and enhancers for EVPL Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around EVPL on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the EVPL gene promoter:
Regulatory Element Products
Genomic Locations for EVPL Gene
Genomic Locations for EVPL Gene
- chr17:76,004,502-76,027,452
- (GRCh38/hg38)
- Size:
- 22,951 bases
- Orientation:
- Minus strand
- chr17:74,000,583-74,023,533
- (GRCh37/hg19)
Genomic View for EVPL Gene
Genes around EVPL on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q25.1 by Ensembl
- 17q25.1 by Entrez Gene
- 17q25.1 by HGNC
EVPL 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 EVPL Gene
Proteins for EVPL Gene
-
Protein details for EVPL Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q92817-EVPL_HUMAN
- Recommended name:
- Envoplakin
- Protein Accession:
- Q92817
- A0AUV5
Protein attributes for EVPL Gene
- Size:
- 2033 amino acids
- Molecular mass:
- 231604 Da
- Quaternary structure:
-
- May form a homodimer or a heterodimer with PPL.
Protein Expression for EVPL Gene
Post-translational modifications for EVPL Gene
Other Protein References for EVPL Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for EVPL
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-
Abcam antibodies for EVPL
-
Cloud-Clone Corp. Antibodies for EVPL
- Invitrogen Antibodies for EVPL
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-
Santa Cruz Biotechnology (SCBT) Antibodies for EVPL
Protein Products
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-
Cloud-Clone Corp. Proteins for EVPL
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Assay Products
-
Cloud-Clone Corp. Assay Kits for EVPL
No data available for DME Specific Peptides for EVPL Gene
Domains & Families for EVPL Gene
Gene Families for EVPL Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for EVPL Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for EVPL Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q92817- Family:
-
- Belongs to the plakin or cytolinker family.
Function for EVPL Gene
Molecular function for EVPL Gene
- GENATLAS Biochemistry:
- envoplakin,membrane-associated precursor of the epidermal cornified envelope,210 kDa,plakin family of cell junction proteins,paraneoplastic pemphigus antigen complex, homolog to DSP (see symbol)
- UniProtKB/Swiss-Prot Function:
- Component of the cornified envelope of keratinocytes. May link the cornified envelope to desmosomes and intermediate filaments.
- UniProtKB/Swiss-Prot Induction:
- During differentiation of epidermal keratinocytes.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005198 | structural molecule activity | IEA,IDA | 10908733 |
| GO:0019215 | intermediate filament binding | IEA | -- |
| GO:0030674 | protein binding, bridging | IDA | 10908733 |
| GO:0045296 | cadherin binding | IDA | 25468996 |
Phenotypes for EVPL Gene
- MGI mutant phenotypes for EVPL:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for EVPL:
Animal Models for EVPL Gene
- MGI Knock Outs for EVPL:
-
- Evpl tm1Fmw
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for EVPL
-
-
ViGene Biosciences lentiviral particle packaged cDNA for EVPL gene
-
ViGene Biosciences ready-to-package AAV shRNAs for EVPL gene
- Search ViGene Biosciences for EVPL
CRISPR Products
-
OriGene CRISPR knockouts for EVPL
- genomics-online: gRNA clones - Search results for 79 available Envoplakin gene related products
- Overview of 79 available Envoplakin gene related products
- Applied Biological Materials CRISPR for EVPL
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for EVPL
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miRNA Products
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Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for EVPL
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- genomics-online: shRNA clones - Search results for 79 available Envoplakin gene related products
- Overview of 79 available Envoplakin gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for EVPL gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for EVPL
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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
- Applied Biological Materials Clones for EVPL
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for EVPL
-
ViGene Biosciences adenoviral particle packaged cDNA for EVPL gene
-
ViGene Biosciences lentiviral particle packaged cDNA for EVPL gene
-
ViGene Biosciences ready-to-package AAV shRNAs for EVPL gene
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for EVPL Gene
Localization for EVPL Gene
Subcellular locations from UniProtKB/Swiss-Prot for EVPL Gene
- Cell junction, desmosome. Cornified envelope. Cytoplasm, cytoskeleton. Note=Colocalized with DSP at desmosomes and along intermediate filaments.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| cytoskeleton | 5 |
| cytosol | 5 |
| nucleus | 3 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
- Cytosol (3)
- Intermediate filaments (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001533 | cornified envelope | TAS | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | IDA,TAS | -- |
| GO:0005856 | cytoskeleton | IEA | -- |
| GO:0030054 | cell junction | IEA | -- |
Pathways & Interactions for EVPL Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Keratinization |
.33
|
|
| 2 | Developmental Biology | ||
| 3 | Cytoskeleton remodeling Neurofilaments | ||
Pathways by source for EVPL Gene
3 Reactome pathways for EVPL Gene
1 GeneGo (Thomson Reuters) pathway for EVPL Gene
Interacting Proteins for EVPL Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0008544 | epidermis development | IEA,TAS | 8707850 |
| GO:0018149 | peptide cross-linking | IDA | 10908733 |
| GO:0030216 | keratinocyte differentiation | IDA | 10908733 |
| GO:0031424 | keratinization | IEA | -- |
| GO:0070268 | cornification | TAS | -- |
No data available for SIGNOR curated interactions for EVPL Gene
Transcripts for EVPL Gene
mRNA/cDNA for EVPL Gene
- (2) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (63) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for EVPL
- genomics-online: gRNA clones - Search results for 79 available Envoplakin gene related products
- Overview of 79 available Envoplakin gene related products
- Applied Biological Materials CRISPR for EVPL
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for EVPL
- GenScript: Design CRISPR guide RNA sequences for EVPL
miRNA Products
- Search ViGene Biosciences for EVPL
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for EVPL
- Browse OriGene Inhibitory RNA Products For EVPL
- genomics-online: shRNA clones - Search results for 79 available Envoplakin gene related products
- Overview of 79 available Envoplakin gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for EVPL gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for EVPL
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for EVPL
-
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
- Applied Biological Materials Clones for EVPL
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for EVPL Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Epithelial Cells
- Granular Keratinocytes Stratified Epidermis
- Corneocytes Stratified Epidermis
-
Epidermis (Integumentary System)
- Granular Keratinocytes Stratified Epidermis
- Corneocytes Stratified Epidermis
-
Skeletal Muscle (Muscoskeletal System)
- Mononuclear Myocytes Mandibular Arch Muscles
- Mononuclear Myocytes Hyoid Arch Muscles
mRNA differential expression in normal tissues according to GTEx for EVPL Gene
This gene is overexpressed in Esophagus - Mucosa (x16.1), Skin - Sun Exposed (Lower leg) (x9.1), Skin - Not Sun Exposed (Suprapubic) (x8.6), and Vagina (x5.7).
This gene is overexpressed in Cervix (33.1), Esophagus (10.6), and Saliva (8.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EVPL Gene
NURSA nuclear receptor signaling pathways regulating expression of EVPL Gene:
EVPLSOURCE GeneReport for Unigene cluster for EVPL Gene:
Hs.500635mRNA Expression by UniProt/SwissProt for EVPL Gene:
Q92817-EVPL_HUMAN
Tissue specificity:
Exclusively expressed in stratified squamous epithelia.
Evidence on tissue expression from TISSUES for EVPL Gene
- Skin(4.6)
- Nervous system(4.1)
- Lung(3.1)
- Blood(2.5)
- Bone marrow(2.3)
Primer Products
-
OriGene qPCR primer pairs for EVPL
Gene Expression Assay Products
No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for EVPL Gene
Orthologs for EVPL Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | EVPL 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | EVPL 33 |
|
||
| -- 34 |
|
OneToMany | |||
| cow (Bos Taurus) |
Mammalia | EVPL 33 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
ManyToMany | |
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| mouse (Mus musculus) |
Mammalia | Evpl 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Evpl 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| chicken (Gallus gallus) |
Aves | EVPL 33 |
|
||
| -- 34 |
|
OneToMany | |||
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | evpl 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | evpla 33 34 |
|
||
| evplb 34 |
|
ManyToMany | |||
| sbcb742 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10086 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | shot 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | vab-10 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany |
- Species where no ortholog for EVPL 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)
- 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)
- 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 EVPL Gene
Variants for EVPL Gene
| SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs755302072 | benign, Abnormality of neuronal migration | 76,023,539(-) | C/T | coding_sequence_variant, missense_variant | |
| rs777067468 | benign, Abnormality of neuronal migration | 76,009,079(-) | C/A/T | coding_sequence_variant, missense_variant | |
| rs1000066499 | -- | 76,027,855(-) | A/G | upstream_transcript_variant | |
| rs1000085364 | -- | 76,018,266(-) | G/A | intron_variant | |
| rs1000086153 | -- | 76,022,070(-) | G/C | intron_variant |
Residual Variation Intolerance Score:
95.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
9.22;
88.04% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for EVPL Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EVPL Gene
Disorders for EVPL Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| paraneoplastic pemphigus |
|
|
| pemphigus |
|
|
| pemphigus foliaceus |
|
|
| pemphigus vulgaris |
|
|
| bullous skin disease |
|
Search EVPL in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for EVPL
No data available for UniProtKB/Swiss-Prot and Genatlas for EVPL Gene
Publications for EVPL Gene
- Envoplakin, a possible candidate gene for focal NEPPK/esophageal cancer (TOC): the integration of genetic and physical maps of the TOC region on 17q25. (PMID: 10409435) Risk JM … Field JK (Genomics 1999) 2 3 4 22 58
- Chromosomal localisation of the human envoplakin gene (EVPL) to the region of the tylosis oesophageal cancer gene (TOCG) on 17q25. (PMID: 8938451) Ruhrberg C … Watt FM (Genomics 1996) 2 3 22 58
- Envoplakin, a novel precursor of the cornified envelope that has homology to desmoplakin. (PMID: 8707850) Ruhrberg C … Watt FM (The Journal of cell biology 1996) 3 4 22 58
- Detection of anti-envoplakin and anti-periplakin autoantibodies by ELISA in patients with paraneoplastic pemphigus. (PMID: 18820940) Huang Y … Zhu X (Archives of dermatological research 2009) 3 22 58
- Infrequent mutation of the human envoplakin gene is closely linked to the tylosis oesophageal cancer locus in sporadic oesophageal squamous cell carcinomas. (PMID: 15756445) Iwaya T … Masuda T (Oncology reports 2005) 3 22 58
Products for EVPL Gene
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- Cloud-Clone Corp. Antibodies for EVPL
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- Browse Knockouts at Cloud-Clone Corp.
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- Cloud-Clone Corp. disease models service
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- Cloud-Clone Corp. primary cells service
- Cyagen custom Knockout/knockin (KOKI) mouse models for EVPL
- VectorBuilder custom plasmid, inducible vectors for EVPL
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for EVPL
- 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
- antibodies-online: Search results for 8 available Envoplakin Antibodies ranked by validation data
- Compare Top Envoplakin Antibodies
- Quality Products:
- antibodies-online: Search results for 17 available Envoplakin Elisa Kits ranked by validation data
- Compare Top Envoplakin Elisa Kits
- antibodies-online: Search results for available Envoplakin related products ranked by validation data
- Search GeneTex for Antibodies for EVPL
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- ViGene Biosciences adenoviral particle packaged cDNA for EVPL gene
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- Search ViGene Biosciences for EVPL
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- genomics-online: cdna clones - Search results for 79 available Envoplakin gene related products
- Overview of 79 available Envoplakin gene related products
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- Overview of 79 available Envoplakin gene related products
- genomics-online: primer clones - Search results for 79 available Envoplakin gene related products
- Overview of 79 available Envoplakin gene related products
- genomics-online: shRNA clones - Search results for 79 available Envoplakin gene related products
- Overview of 79 available Envoplakin gene related products
Sources for EVPL 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) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
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