Aliases for CYP46A1 Gene
Aliases for CYP46A1 Gene
External Ids for CYP46A1 Gene
- HGNC: 2641
- Entrez Gene: 10858
- Ensembl: ENSG00000036530
- OMIM: 604087
- UniProtKB: Q9Y6A2
Previous HGNC Symbols for CYP46A1 Gene
- CYP46
Previous GeneCards Identifiers for CYP46A1 Gene
- GC14P093966
- GC14P098140
- GC14P099220
- GC14P100150
- GC14P080333
Summaries for CYP46A1 Gene
-
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein is expressed in the brain, where it converts cholesterol to 24S-hydroxycholesterol. While cholesterol cannot pass the blood-brain barrier, 24S-hydroxycholesterol can be secreted in the brain into the circulation to be returned to the liver for catabolism. [provided by RefSeq, Jul 2008]
GeneCards Summary for CYP46A1 Gene
CYP46A1 (Cytochrome P450 Family 46 Subfamily A Member 1) is a Protein Coding gene. Diseases associated with CYP46A1 include Anus Disease and Alpha-Methylacyl-Coa Racemase Deficiency. Among its related pathways are Metabolism and Cytochrome P450 - arranged by substrate type. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP3A4.
UniProtKB/Swiss-Prot for CYP46A1 Gene
-
Involved in the turnover of cholesterol. It converts cholesterol into 24S-hydroxycholesterol and, to a lesser extent, 25-hydroxycholesterol. Has also activity with xenobiotic compounds, such as clotrimazole.
Additional gene information for CYP46A1 Gene
- Monarch Initiative
- Search for CYP46A1 at DataMed
- Search for CYP46A1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYP46A1 Gene
Genomics for CYP46A1 Gene
GeneHancer (GH) Regulatory Elements for CYP46A1 Gene
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH14I099682 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE | 550.8 | -0.4 | -405 | 2.3 | ARID4B SIN3A ZNF2 ZBTB7B ZNF213 E2F8 ZNF207 ZNF143 KLF13 SP3 | CYP46A1 HHIPL1 ENSG00000258672 GC14P099668 | |
GH14I099872 | Enhancer | 0.7 | ENCODE | 10.7 | +188.5 | 188452 | 1.4 | MZF1 FEZF1 ZIC2 ZNF2 ZNF213 RCOR1 EZH2 ZNF10 GFI1B ZBTB8A | EML1 CCNK ENSG00000234648 RPL3P4 CYP46A1 GC14M099882 GC14M099754 | |
GH14I099277 | Enhancer | 0.6 | FANTOM5 dbSUPER | 12.1 | -406.5 | -406450 | 0.3 | PRDM10 | GC14P099279 CYP46A1 BCL11B | |
GH14I099819 | Enhancer | 0.4 | dbSUPER | 10.7 | +135.8 | 135760 | 1.8 | MAZ ZNF341 PRDM1 | EML1 HHIPL1 CYP46A1 GC14M099754 GC14M099882 | |
GH14I099822 | Enhancer | 0.4 | ENCODE dbSUPER | 10.6 | +138.7 | 138707 | 0.9 | EML1 HHIPL1 CYP46A1 GC14M099754 GC14M099882 |
- Top Transcription factor binding sites by QIAGEN in the CYP46A1 gene promoter:
Regulatory Element Products
Genomic Locations for CYP46A1 Gene
- chr14:99,684,262-99,727,321
- (GRCh38/hg38)
- Size:
- 43,060 bases
- Orientation:
- Plus strand
- chr14:100,150,641-100,193,638
- (GRCh37/hg19)
Genomic View for CYP46A1 Gene
- Cytogenetic band:
-
- 14q32.2 by Ensembl
- 14q32.2 by Entrez Gene
- 14q32.2 by HGNC


RefSeq DNA sequence for CYP46A1 Gene
Proteins for CYP46A1 Gene
-
Protein details for CYP46A1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9Y6A2-CP46A_HUMAN
- Recommended name:
- Cholesterol 24-hydroxylase
- Protein Accession:
- Q9Y6A2
- B4DHP8
- E7EQG9
- Q8N2B0
Protein attributes for CYP46A1 Gene
- Size:
- 500 amino acids
- Molecular mass:
- 56821 Da
- Cofactor:
- Name=heme; Xref=ChEBI:CHEBI:30413;
- Quaternary structure:
- No Data Available
Three dimensional structures from OCA and Proteopedia for CYP46A1 Gene
Protein Expression for CYP46A1 Gene
Post-translational modifications for CYP46A1 Gene
Other Protein References for CYP46A1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
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No data available for DME Specific Peptides for CYP46A1 Gene
Domains & Families for CYP46A1 Gene
Gene Families for CYP46A1 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted intracellular proteins
- Predicted secreted proteins
Protein Domains for CYP46A1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for CYP46A1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9Y6A2- Family:
-
- Belongs to the cytochrome P450 family.
Function for CYP46A1 Gene
Molecular function for CYP46A1 Gene
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=2.2 uM for 24(S)-hydroxycholesterol {ECO:0000269 PubMed:14640697};
- UniProtKB/Swiss-Prot CatalyticActivity:
- Cholesterol + [reduced NADPH--hemoprotein reductase] + O(2) = (24S)-cholest-5-ene-3-beta,24-diol + [oxidized NADPH--hemoprotein reductase] + H(2)O.
- UniProtKB/Swiss-Prot Function:
- Involved in the turnover of cholesterol. It converts cholesterol into 24S-hydroxycholesterol and, to a lesser extent, 25-hydroxycholesterol. Has also activity with xenobiotic compounds, such as clotrimazole.
Enzyme Numbers (IUBMB) for CYP46A1 Gene
Phenotypes From GWAS Catalog for CYP46A1 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005506 | iron ion binding | IEA | -- |
GO:0008395 | steroid hydroxylase activity | TAS | 10377398 |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO:0016705 | oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen | IEA | -- |
GO:0020037 | heme binding | IDA,IEA | 18621681 |
Phenotypes for CYP46A1 Gene
- MGI mutant phenotypes for CYP46A1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for CYP46A1:
-
- Increased vaccinia virus (VACV) infection
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Dynamic nuclei (hole, folded or small irregular)
- Negative genetic interaction between PTEN-/- and PTEN+/+
- Decreased HIV-LTR-beta-galactosidase protein expression
- Negative genetic interaction between BLM-/- and BLM+/+
Animal Models for CYP46A1 Gene
- MGI Knock Outs for CYP46A1:
-
- Cyp46a1 tm1Rus
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miRNA for CYP46A1 Gene
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
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- Yeast expression
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No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CYP46A1 Gene
Localization for CYP46A1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CYP46A1 Gene
- Endoplasmic reticulum membrane; Single-pass membrane protein. Microsome membrane; Single-pass membrane protein.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | TAS | 10377398 |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0031090 | organelle membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for CYP46A1 Gene
Pathways & Interactions for CYP46A1 Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cytochrome P450 - arranged by substrate type | ||
2 | Synthesis of bile acids and bile salts | ||
3 | Metabolism |
.37
|
Pathways by source for CYP46A1 Gene
2 BioSystems pathways for CYP46A1 Gene
9 Reactome pathways for CYP46A1 Gene
1 KEGG pathway for CYP46A1 Gene
Interacting Proteins for CYP46A1 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0006699 | bile acid biosynthetic process | TAS | -- |
GO:0006707 | cholesterol catabolic process | TAS,IDA | 18621681 |
GO:0006805 | xenobiotic metabolic process | IDA | 20667828 |
GO:0007399 | nervous system development | TAS | 10377398 |
No data available for SIGNOR curated interactions for CYP46A1 Gene
Drugs & Compounds for CYP46A1 Gene
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
24-Hydroxycholesterol |
|
474-73-7 |
|
|||
NADP |
|
53-59-8 |
|
|||
nadph |
|
53-57-6 |
|
Transcripts for CYP46A1 Gene
mRNA/cDNA for CYP46A1 Gene
- (5) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (31) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for CYP46A1 Gene
CRISPR Products
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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
- genomics-online: cdna clones - Search results for available CYP46A1 gene related products
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- Applied Biological Materials Clones for CYP46A1
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Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||
SP2: | - |
Expression for CYP46A1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
mRNA differential expression in normal tissues according to GTEx for CYP46A1 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CYP46A1 Gene
NURSA nuclear receptor signaling pathways regulating expression of CYP46A1 Gene:
CYP46A1SOURCE GeneReport for Unigene cluster for CYP46A1 Gene:
Hs.25121mRNA Expression by UniProt/SwissProt for CYP46A1 Gene:
Q9Y6A2-CP46A_HUMANEvidence on tissue expression from TISSUES for CYP46A1 Gene
- Nervous system(4.6)
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No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CYP46A1 Gene
Orthologs for CYP46A1 Gene
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | CYP46A1 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | CYP46A1 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | CYP46A1 33 34 |
|
||
mouse (Mus musculus) |
Mammalia | Cyp46a1 33 16 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Cyp46a1 33 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | CYP46A1 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | CYP46A1 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
-- 34 |
|
OneToMany | |||
tropical clawed frog (Silurana tropicalis) |
Amphibia | mgc108213 33 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | MGC64404 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | cyp46a4 34 |
|
OneToMany | |
cyp46a1 34 |
|
OneToMany | |||
cyp46a2 34 |
|
OneToMany | |||
CYP46A1 (4 of 5) 34 |
|
OneToMany | |||
CYP46A1 (5 of 5) 34 |
|
OneToMany | |||
zgc63602 33 |
|
||||
rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.48 33 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | Cyp310a1 34 |
|
OneToMany | |
thale cress (Arabidopsis thaliana) |
eudicotyledons | CYP97A3 33 |
|
||
rice (Oryza sativa) |
Liliopsida | Os02g0817900 33 |
|
- Species where no ortholog for CYP46A1 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)
- oppossum (Monodelphis domestica)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- 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 CYP46A1 Gene
Paralogs for CYP46A1 Gene
(3) SIMAP similar genes for CYP46A1 Gene using alignment to 5 proteins:
Pseudogenes.org Pseudogenes for CYP46A1 Gene
Variants for CYP46A1 Gene
SNP ID | Clin | Chr 14 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1000000792 | -- | 99,701,376(+) | A/G | genic_upstream_transcript_variant, intron_variant | |
rs1000210437 | -- | 99,719,748(+) | TTTTTTTT/TTTTTTT/TTTTTTTTT | intron_variant | |
rs1000264443 | -- | 99,699,227(+) | C/A/T | genic_upstream_transcript_variant, intron_variant | |
rs1000302677 | -- | 99,725,922(+) | G/A | intron_variant | |
rs1000308057 | -- | 99,688,244(+) | A/G | genic_upstream_transcript_variant, intron_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3635488 | CNV | gain | 21293372 |
nsv1046296 | CNV | gain | 25217958 |
nsv1130684 | CNV | deletion | 24896259 |
nsv1423 | CNV | deletion | 18451855 |
nsv470667 | CNV | loss | 18288195 |
nsv565733 | CNV | gain | 21841781 |
nsv565763 | CNV | loss | 21841781 |
Additional Variant Information for CYP46A1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP46A1 Gene
Disorders for CYP46A1 Gene
Disorder | Aliases | PubMed IDs |
---|---|---|
anus disease |
|
|
alpha-methylacyl-coa racemase deficiency |
|
|
multidrug-resistant tuberculosis |
|
|
alzheimer disease |
|
Additional Disease Information for CYP46A1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for CYP46A1 Gene
Publications for CYP46A1 Gene
- cDNA cloning of cholesterol 24-hydroxylase, a mediator of cholesterol homeostasis in the brain. (PMID: 10377398) Lund EG … Russell DW (Proceedings of the National Academy of Sciences of the United States of America 1999) 2 3 4 22 58
- Cholesterol 24-hydroxylase (CYP46A1) polymorphisms are associated with faster cognitive deterioration in Chinese older persons: a two-year follow up study. (PMID: 19212968) Fu BY … Lam LC (International journal of geriatric psychiatry 2009) 3 22 44 58
- CYP46A1 variants influence Alzheimer's disease risk and brain cholesterol metabolism. (PMID: 19286353) Kölsch H … Heun R (European psychiatry : the journal of the Association of European Psychiatrists 2009) 3 22 44 58
- Earlier onset of Alzheimer's disease: risk polymorphisms within PRNP, PRND, CYP46, and APOE genes. (PMID: 19363267) Golanska E … Corder EH (Journal of Alzheimer's disease : JAD 2009) 3 22 44 58
- Meta-analysis of genetic variability in the beta-amyloid production, aggregation and degradation metabolic pathways and the risk of Alzheimer's disease. (PMID: 17854420) Llorca J … Combarros O (Acta neurologica Scandinavica 2008) 3 22 44 58
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- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 85 available CYP46A1 Antibodies ranked by validation data
- Compare Top CYP46A1 Antibodies
- antibodies-online: Search results for 2 available CYP46A1 Elisa Kits ranked by validation data
- Compare Top CYP46A1 Elisa Kits
- Quality Products:
- antibodies-online: Search results for 4 available CYP46A1 Proteins ranked by validation data
- Compare Top CYP46A1 Proteins
- Quality Products:
- GeneTex CYP46A1 antibody for CYP46A1
- Search GeneTex for Proteins for CYP46A1
- ViGene Biosciences adenoviral particle packaged cDNA for CYP46A1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for CYP46A1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for CYP46A1 gene
- Search ViGene Biosciences for CYP46A1
- Santa Cruz Biotechnology (SCBT) Antibodies for CYP46A1
- Search Santa Cruz Biotechnology (SCBT) for CYP46A1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for CYP46A1
- Horizon Cell Lines for CYP46A1
- genomics-online: cdna clones - Search results for available CYP46A1 gene related products
- orf clones - Search results for available CYP46A1 gene related products
- genomics-online: gRNA clones - Search results for available CYP46A1 gene related products
- genomics-online: primer clones - Search results for available CYP46A1 gene related products
- genomics-online: shRNA clones - Search results for available CYP46A1 gene related products
Sources for CYP46A1 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
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew