Aliases for EFEMP1 Gene
Aliases for EFEMP1 Gene
External Ids for EFEMP1 Gene
- HGNC: 3218
- Entrez Gene: 2202
- Ensembl: ENSG00000115380
- OMIM: 601548
- UniProtKB: Q12805
Previous HGNC Symbols for EFEMP1 Gene
- DHRD
- FBNL
Previous GeneCards Identifiers for EFEMP1 Gene
- GC02M056130
- GC02M056279
- GC02M056067
- GC02M056004
- GC02M056093
Summaries for EFEMP1 Gene
-
This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009]
GeneCards Summary for EFEMP1 Gene
EFEMP1 (EGF Containing Fibulin-Like Extracellular Matrix Protein 1) is a Protein Coding gene. Diseases associated with EFEMP1 include Doyne Honeycomb Degeneration Of Retina and Familial Drusen. Among its related pathways are ERK Signaling and Phospholipase-C Pathway. GO annotations related to this gene include calcium ion binding and epidermal growth factor receptor binding. An important paralog of this gene is LTBP3.
UniProtKB/Swiss-Prot for EFEMP1 Gene
-
Binds EGFR, the EGF receptor, inducing EGFR autophosphorylation and the activation of downstream signaling pathways. May play a role in cell adhesion and migration. May function as a negative regulator of chondrocyte differentiation. In the olfactory epithelium, it may regulate glial cell migration, differentiation and the ability of glial cells to support neuronal neurite outgrowth.
No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EFEMP1 Gene
Genomics for EFEMP1 Gene
Regulatory Elements for EFEMP1 Gene
Enhancers for EFEMP1 Gene
| GeneHancer Identifier | Score | Enhancer Sources | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Other Gene Targets for Enhancer |
|---|
Enhancers around EFEMP1 on UCSC Golden Path with GeneCards custom track
Promoters for EFEMP1 Gene
| Ensembl Regulatory Elements (ENSRs) | TSS Distance (bp) | Size (bp) | Binding Sites for Transcription Factors within promoters |
|---|
ENSRs around EFEMP1 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the EFEMP1 gene promoter:
Regulatory Element Products
Genomic Location for EFEMP1 Gene
- Chromosome:
- 2
- Start:
- 55,865,962 bp from pter
- End:
- 55,924,163 bp from pter
- Size:
- 58,202 bases
- Orientation:
- Minus strand
Genomic View for EFEMP1 Gene
Genes around EFEMP1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2p16.1 by Ensembl
- 2p16 by Entrez Gene
- 2p16 by HGNC
EFEMP1 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 EFEMP1 Gene
Proteins for EFEMP1 Gene
-
Protein details for EFEMP1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q12805-FBLN3_HUMAN
- Recommended name:
- EGF-containing fibulin-like extracellular matrix protein 1
- Protein Accession:
- Q12805
- A8K3I4
- B4DW75
- D6W5D2
- Q541U7
Protein attributes for EFEMP1 Gene
- Size:
- 493 amino acids
- Molecular mass:
- 54641 Da
- Quaternary structure:
-
- Interacts with ECM1. Interacts with TIMP3.
- Miscellaneous:
-
- Up-regulated in malignant gliomas. May increase glioma cell adhesiveness and invasive properties.
Protein Expression for EFEMP1 Gene
Post-translational modifications for EFEMP1 Gene
Other Protein References for EFEMP1 Gene
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for EFEMP1
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-
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- antibodies-online Antibodies for EFEMP1: See all 83
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-
Santa Cruz Biotechnology (SCBT) Antibodies for EFEMP1
Protein Products
- R&D Systems Proteins and Enzymes for EFEMP1 (Fibulin 3)
-
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-
Cloud-Clone Corp. Proteins for EFEMP1
- antibodies-online Proteins for EFEMP1: See all 14
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Assay Products
- antibodies-online Kits for EFEMP1: See all 11
No data available for DME Specific Peptides for EFEMP1 Gene
Domains & Families for EFEMP1 Gene
Gene Families for EFEMP1 Gene
- HGNC:
Protein Domains for EFEMP1 Gene
Suggested Antigen Peptide Sequences for EFEMP1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q12805- Domain:
-
- Contains 6 EGF-like domains.
- Family:
-
- Belongs to the fibulin family.
Function for EFEMP1 Gene
Molecular function for EFEMP1 Gene
- GENATLAS Biochemistry:
- EGF-containing fibrillin-like extracellular matrix protein 1,expressed in retina and retina pigment epithelium,overexpressed in senescent or quiescent fibroblasts
- UniProtKB/Swiss-Prot Function:
- Binds EGFR, the EGF receptor, inducing EGFR autophosphorylation and the activation of downstream signaling pathways. May play a role in cell adhesion and migration. May function as a negative regulator of chondrocyte differentiation. In the olfactory epithelium, it may regulate glial cell migration, differentiation and the ability of glial cells to support neuronal neurite outgrowth.
Phenotypes for EFEMP1 Gene
- MGI mutant phenotypes for EFEMP1:
-
inferred from 4 alleles
- mortality/aging
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- liver/biliary system phenotype
- normal phenotype
- immune system phenotype
- cardiovascular system phenotype
- integument phenotype
- growth/size/body region phenotype
- hematopoietic system phenotype
- homeostasis/metabolism phenotype
- digestive/alimentary phenotype
- vision/eye phenotype
- muscle phenotype
- skeleton phenotype
- pigmentation phenotype
- renal/urinary system phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for EFEMP1:
Animal Model Products
-
Taconic Biosciences Mouse Models for EFEMP1
-
ViGene Biosciences lentiviral particle packaged cDNA for EFEMP1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for EFEMP1 gene
- Search ViGene Biosciences for EFEMP1
CRISPR Products
-
OriGene CRISPR knockouts for EFEMP1
-
Santa Cruz Biotechnology (SCBT) CRISPR for EFEMP1
- GenScript: Design CRISPR guide RNA sequences for EFEMP1
miRNA Products
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Clone Products
- OriGene clones in human for EFEMP1
- OriGene ORF clones in human,mouse,rat for EFEMP1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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Cell Line Products
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ViGene Biosciences adenoviral particle packaged cDNA for EFEMP1 gene
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Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets and HOMER Transcription for EFEMP1 Gene
Localization for EFEMP1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for EFEMP1 Gene
- Secreted, extracellular space. Secreted, extracellular space, extracellular matrix. Note=Localizes to the lamina propria underneath the olfactory epithelium. {ECO:0000250}.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| plasma membrane | 1 |
| vacuole | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005604 | basement membrane | IEA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
Pathways & Interactions for EFEMP1 Gene
More details on SuperPathways for EFEMP1| Superpath | Contained pathways | ||
|---|---|---|---|
| 1 | Integrin Pathway |
.67
.67
.56
|
.56
|
| 2 | ERK Signaling |
.61
.58
|
.49
|
| 3 | Phospholipase-C Pathway |
.56
|
|
| 4 | Elastic fibre formation | ||
| 5 | Degradation of the extracellular matrix |
Pathways by source for EFEMP1 Gene
3 Reactome pathways for EFEMP1 Gene
13 Qiagen pathways for EFEMP1 Gene
Interacting Proteins for EFEMP1 Gene
Selected Interacting proteins:
Q12805-FBLN3_HUMAN
ENSP00000347596
for EFEMP1 Gene via
MINT
STRING
UniProtKB
I2D
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006355 | regulation of transcription, DNA-templated | IDA | 20005202 |
| GO:0007173 | epidermal growth factor receptor signaling pathway | IDA | 19804359 |
| GO:0030198 | extracellular matrix organization | TAS | -- |
| GO:0048048 | embryonic eye morphogenesis | IEP | 25406291 |
| GO:0048050 | post-embryonic eye morphogenesis | IEP | 25406291 |
No data available for SIGNOR curated interactions for EFEMP1 Gene
Transcripts for EFEMP1 Gene
mRNA/cDNA for EFEMP1 Gene
- (4) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (447) Selected AceView cDNA sequences:
- (14) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for EFEMP1 Gene
- EGF containing fibulin-like extracellular matrix protein 1:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for EFEMP1
-
Santa Cruz Biotechnology (SCBT) CRISPR for EFEMP1
- GenScript: Design CRISPR guide RNA sequences for EFEMP1
miRNA Products
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Clone Products
- OriGene clones in human for EFEMP1
- OriGene ORF clones in human,mouse,rat for EFEMP1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for EFEMP1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for EFEMP1
Flow Cytometry Products
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP9: | - |
Expression for EFEMP1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Kidney (Urinary System)
- Metanephric Mesenchyme Cells Metanephric Mesenchyme
- Renal Collecting Duct System
- S-shaped Body
-
Eye (Sensory Organs)
- GABAergic Amacrine Cells Inner Nuclear Layer
- Retina
- Brain (Nervous System)
- Endothelium (Cardiovascular System)
-
Neurons
- GABAergic Amacrine Cells Inner Nuclear Layer
-
Epidermis (Integumentary System)
- Basal Keratinocytes Embryonic Epidermis
-
Epithelial Cells
- Basal Keratinocytes Embryonic Epidermis
-
Hair
- Basal Keratinocytes Embryonic Epidermis
- Bone (Muscoskeletal System)
- Adipose (Muscoskeletal System)
- Dermis (Integumentary System)
- Fibroblasts
- NULL (Uncategorized)
- Neural Tube (Nervous System)
-
Umbilical Cord (Extraembryonic Tissues)
-
Uterus (Reproductive System)
-
Colon (Gastrointestinal Tract)
-
Prostate (Endocrine System)
-
Placenta (Extraembryonic Tissues)
-
Smooth Muscle (Muscoskeletal System)
-
Thyroid (Endocrine System)
-
Gall Bladder (Hepatobiliary System)
-
Lung (Respiratory System)
-
Adrenal Gland (Endocrine System)
-
Esophagus (Gastrointestinal Tract)
-
Ovary (Reproductive System)
mRNA differential expression in normal tissues according to GTEx for EFEMP1 Gene
This gene is overexpressed in Artery - Aorta (x9.3) and Artery - Coronary (x5.9).
This gene is overexpressed in Vitreous humor (18.5), Cerebrospinal fluid (6.9), Synovial fluid (6.2), Urine (6.1), and Skin (6.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for EFEMP1 Gene
SOURCE GeneReport for Unigene cluster for EFEMP1 Gene Hs.76224
mRNA Expression by UniProt/SwissProt for EFEMP1 Gene
Q12805-FBLN3_HUMAN
Tissue specificity:
In the eye, associated with photoreceptor outer and inner segment regions, the nerve fiber layer, outer nuclear layer and inner and outer plexiform layers of the retina.
Primer Products
-
OriGene qPCR primer pairs and template standards for EFEMP1
-
OriGene qPCR primer pairs for EFEMP1
Orthologs for EFEMP1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| cow (Bos Taurus) |
Mammalia | EFEMP1 35 |
|
||
| EFEMP1 36 |
|
OneToOne | |||
| dog (Canis familiaris) |
Mammalia | EFEMP1 35 |
|
||
| EFEMP1 36 |
|
OneToOne | |||
| mouse (Mus musculus) |
Mammalia | Efemp1 35 |
|
||
| Efemp1 16 |
|
||||
| Efemp1 36 |
|
OneToOne | |||
| rat (Rattus norvegicus) |
Mammalia | Efemp1 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | EFEMP1 36 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | EFEMP1 36 |
|
OneToOne | |
| chimpanzee (Pan troglodytes) |
Mammalia | EFEMP1 36 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | EFEMP1 35 |
|
||
| EFEMP1 36 |
|
OneToOne | |||
| lizard (Anolis carolinensis) |
Reptilia | EFEMP1 36 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | efemp1 35 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC100332567 35 |
|
||
| EFEMP1 (1 of 2) 36 |
|
OneToMany | |||
| EFEMP1 (2 of 2) 36 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | CG31999 36 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | fbl-1 36 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 36 |
|
OneToMany |
- Species with no ortholog for EFEMP1:
-
- 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)
- 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 EFEMP1 Gene
Paralogs for EFEMP1 Gene
(19) SIMAP similar genes for EFEMP1 Gene using alignment to 10 proteins:
Variants for EFEMP1 Gene
| SNP ID | Clin | Chr 02 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| VAR_009512 | - | ||||
| VAR_009513 | Doyne honeycomb retinal dystrophy (DHRD) | ||||
| rs727877 | -- | 55,892,375(+) | CTTGG(A/T)TCTTG | intron-variant | |
| rs727878 | -- | 55,892,522(+) | GGACT(C/T)ATCTT | intron-variant | |
| rs934273 | -- | 55,897,149(+) | CCTCA(A/G/T)AGACT | intron-variant |
Residual Variation Intolerance Score:
17.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.31;
26.02% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for EFEMP1 Gene
- Human Gene Mutation Database (HGMD)
- EFEMP1
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EFEMP1 Gene
Disorders for EFEMP1 Gene
(11) MalaCards diseases for EFEMP1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| doyne honeycomb degeneration of retina |
|
|
| familial drusen |
|
|
| wolfram syndrome |
|
|
| fundus dystrophy |
|
|
| brain glioblastoma multiforme |
|
|
Search EFEMP1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
FBLN3_HUMAN- Doyne honeycomb retinal dystrophy (DHRD) [MIM:126600]: Autosomal dominant disease characterized by yellow-white deposits known as drusen that accumulate beneath the retinal pigment epithelium. {ECO:0000269 PubMed:10369267, ECO:0000269 PubMed:11384588}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for EFEMP1
No data available for Genatlas for EFEMP1 Gene
Publications for EFEMP1 Gene
- Structure and chromosomal assignment of the human S1-5 gene (FBNL) that is highly homologous to fibrillin. (PMID: 8812496) Ikegawa S. … Nakamura Y. (Genomics 1996) 2 3 4 23 67
- A novel haplotype with the R345W mutation in the EFEMP1 gene associated with autosomal dominant drusen in a Japanese family. (PMID: 19850834) Takeuchi T. … Tsuneoka H. (Invest. Ophthalmol. Vis. Sci. 2010) 3 23
- Epidermal growth factor-containing fibulin-like extracellular matrix protein 1, EFEMP1, a novel tumor-suppressor gene detected in hepatocellular carcinoma using double combination array analysis. (PMID: 19898900) Nomoto S. … Nakao A. (Ann. Surg. Oncol. 2010) 3 23
- EFEMP1 expression promotes in vivo tumor growth in human pancreatic adenocarcinoma. (PMID: 19208748) Seeliger H. … Bruns C.J. (Mol. Cancer Res. 2009) 3 23
- ECM1 interacts with fibulin-3 and the beta 3 chain of laminin 332 through its serum albumin subdomain-like 2 domain. (PMID: 19275936) Sercu S. … Merregaert J. (Matrix Biol. 2009) 3 23
Products for EFEMP1 Gene
- R&D Systems Antibodies for EFEMP1 (Fibulin 3)
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- antibodies-online Antibodies for EFEMP1: See all 83
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- antibodies-online Proteins for EFEMP1: See all 14
- Search antibodies-online for peptides
- GeneTex EFEMP1 antibody for EFEMP1
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- ViGene Biosciences adenoviral particle packaged cDNA for EFEMP1 gene
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- ViGene Biosciences ready-to-package AAV shRNAs for EFEMP1 gene
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Sources for EFEMP1 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) I2D
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) UniGene
- (28) AceView
- (29) RNAdb
- (30) ASD
- (31) ECgene
- (32) GeneAnnot
- (33) SAGE
- (34) SOURCE
- (35) HomoloGene
- (36) PanEnsembl
- (37) euGenes
- (38) SGD
- (39) FlyBase
- (40) WormBase
- (41) Pseudogene
- (42) DGV
- (43) dbSNP
- (44) HapMap
- (45) GenAtlas
- (46) GeneTests
- (47) HGMD
- (48) GAD
- (49) LSDB
- (50) BGMUT
- (51) HuGE
- (52) eBioscience
- (53) Atlas
- (54) Cell Signaling Technology
- (55) GenBank
- (56) H-invDB
- (57) HORDE
- (58) HUGE
- (59) IMGT
- (60) Leiden
- (61) MILLIPORE
- (62) miRBase
- (63) DME
- (64) Nature
- (65) NCBI
- (66) OriGene
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