Aliases for CD248 Gene
Aliases for CD248 Gene
External Ids for CD248 Gene
- HGNC: 18219
- Entrez Gene: 57124
- Ensembl: ENSG00000174807
- OMIM: 606064
- UniProtKB: Q9HCU0
Previous HGNC Symbols for CD248 Gene
- CD164L1
Previous GeneCards Identifiers for CD248 Gene
- GC11M065839
- GC11M066083
- GC11M062435
Summaries for CD248 Gene
GeneCards Summary for CD248 Gene
CD248 (CD248 Molecule) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include calcium ion binding and extracellular matrix binding. An important paralog of this gene is CD93.
UniProtKB/Swiss-Prot for CD248 Gene
-
May play a role in tumor angiogenesis.
No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CD248 Gene
Genomics for CD248 Gene
GeneHancer (GH) Regulatory Elements for CD248 Gene
Promoters and enhancers for CD248 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around CD248 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CD248 gene promoter:
-
- RORalpha1
- CUTL1
- GATA-2
- Pax-6
- AP-4
- c-Myb
- SREBP-1a
- SREBP-1b
- SREBP-1c
- AhR
Regulatory Element Products
Genomic Locations for CD248 Gene
Genomic Locations for CD248 Gene
- chr11:66,314,487-66,317,044
- (GRCh38/hg38)
- Size:
- 2,558 bases
- Orientation:
- Minus strand
- chr11:66,081,958-66,084,515
- (GRCh37/hg19)
- Size:
- 2,558 bases
- Orientation:
- Minus strand
Genomic View for CD248 Gene
Genes around CD248 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11q13.2 by Entrez Gene
- 11q13.2 by HGNC
- 11q13.2 by Ensembl
CD248 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 CD248 Gene
Proteins for CD248 Gene
-
Protein details for CD248 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9HCU0-CD248_HUMAN
- Recommended name:
- Endosialin
- Protein Accession:
- Q9HCU0
- Q2M2V5
- Q3SX55
- Q96KB6
Protein attributes for CD248 Gene
- Size:
- 757 amino acids
- Molecular mass:
- 80859 Da
- Quaternary structure:
- No Data Available
Protein Expression for CD248 Gene
Post-translational modifications for CD248 Gene
- O-glycosylated with sialylated oligosaccharides.
- May be N-glycosylated.
- Glycosylation at posLast=640640, posLast=636636, posLast=631631, Thr630, posLast=627627, posLast=625625, posLast=623623, posLast=619619, posLast=612612, posLast=601601, Ser598, Thr595, posLast=594594, posLast=593593, posLast=587587, Thr545, posLast=544544, Thr543, posLast=541541, Thr519, Thr472, Thr459, posLast=456456, Thr448, Thr428, Thr401, and posLast=6060
- Modification sites at PhosphoSitePlus
Other Protein References for CD248 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for CD248 (Endosialin/CD248)
-
Custom Antibody ServicesOriGene Antibodies for CD248
- Novus Biologicals Antibodies for CD248
-
Abcam antibodies for CD248
- Invitrogen Antibodies for CD248 (AFLGC-CD248)
- GeneTex CD248 Antibody for CD248
-
Custom Antibody ServicesProSci Antibodies for CD248
-
Santa Cruz Biotechnology (SCBT) Antibodies for CD248
- Sino Biological Antibodies for CD248
Protein Products
- R&D Systems Proteins and Enzymes for CD248 (Endosialin/CD248)
-
OriGene Purified Proteins for CD248
- Search Origene for MassSpec and Protein Over-expression Lysates for CD248
- Origene Custom Protein Services for CD248
- antibodies-online: Search results for 7 available CD248 Proteins ranked by validation data
- Compare Top CD248 Proteins
-
Quality Products:
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-
Abcam proteins for CD248
Assay Products
- antibodies-online: Search results for 2 available CD248 Elisa Kits ranked by validation data
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-
Quality Products:
No data available for DME Specific Peptides for CD248 Gene
Domains & Families for CD248 Gene
Gene Families for CD248 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- CD markers
- Predicted membrane proteins
Protein Domains for CD248 Gene
Suggested Antigen Peptide Sequences for CD248 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for CD248 Gene
Function for CD248 Gene
Molecular function for CD248 Gene
- UniProtKB/Swiss-Prot Function:
- May play a role in tumor angiogenesis.
Phenotypes From GWAS Catalog for CD248 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003674 | molecular_function | ND | -- |
| GO:0005509 | calcium ion binding | IEA | -- |
| GO:0030246 | carbohydrate binding | IEA | -- |
| GO:0050840 | extracellular matrix binding | IEA | -- |
Phenotypes for CD248 Gene
- MGI mutant phenotypes for CD248:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for CD248:
-
- Decreased viability ratio
- Decreased shRNA abundance (Z-score < -2)
- Dynamic nuclei (hole, folded or small irregular)
- Increased shRNA abundance (Z-score > 2)
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Decreased viability in esophageal squamous lineage
- Decreased Salmonella enterica Typhimurium invasion
- Decreased Salmonella enterica Typhimurium binding
- Decreased viability with TRAIL
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Increased gamma-H2AX phosphorylation
- Decreased Dengue Infection
- Decreased infection with West Nile virus (WNV)
- Decreased West Nile virus (WNV) infection
- Increased viability
Animal Model Products
-
Taconic Biosciences Mouse Models for CD248
- Cyagen custom Knockout/knockin (KOKI) mouse models for CD248
-
CRISPR Products
-
OriGene CRISPR knockouts for CD248
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CD248
- genomics-online: gRNA clones - Search results for 97 available CD248 gene related products
- Overview of 97 available CD248 gene related products
-
Recommended
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-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CD248
- GenScript: Design CRISPR guide RNA sequences for CD248
miRNA for CD248 Gene
- miRTarBase miRNAs that target CD248
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CD248
- Browse OriGene Inhibitory RNA Products For CD248
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD248
- genomics-online: shRNA clones - Search results for 97 available CD248 gene related products
- Overview of 97 available CD248 gene related products
-
Recommended
Clone Products
- Sino Biological Human cDNA Clone for CD248
- Addgene plasmids for CD248
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CD248
- genomics-online: cdna clones - Search results for 97 available CD248 gene related products
- Overview of 97 available CD248 gene related products
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Recommended
- orf clones - Search results for 97 available CD248 gene related products
- Overview of 97 available CD248 gene related products
-
Recommended
- Applied Biological Materials Clones for CD248
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for CD248 (Endosialin/CD248)
Cell Line Products
-
Horizon Cell Lines for CD248
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CD248 Gene
Localization for CD248 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CD248 Gene
- Membrane; Single-pass type I membrane protein.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| plasma membrane | 4 |
| cytoskeleton | 2 |
| peroxisome | 2 |
| nucleus | 1 |
- Plasma membrane (3)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
| GO:0070062 | extracellular exosome | HDA | 23533145 |
Pathways & Interactions for CD248 Gene
No Data Available
Interacting Proteins for CD248 Gene
GPS-Prot Interaction Network for CD248
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0008150 | biological_process | ND | -- |
| GO:0008284 | positive regulation of cell proliferation | IEA | -- |
| GO:0016477 | cell migration | IEA | -- |
| GO:0048535 | lymph node development | IEA | -- |
| GO:0060033 | anatomical structure regression | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for CD248 Gene
Drugs & Compounds for CD248 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| MORAB-004 | Pharma | 0 |
Drug Products
Transcripts for CD248 Gene
mRNA/cDNA for CD248 Gene
- (1) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (107) Selected AceView cDNA sequences:
- (1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000311330 2558 bps (uc001ohm.1)
Unigene Clusters for CD248 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CD248
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CD248
- genomics-online: gRNA clones - Search results for 97 available CD248 gene related products
- Overview of 97 available CD248 gene related products
-
Recommended
- Applied Biological Materials CRISPR for CD248
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CD248
- GenScript: Design CRISPR guide RNA sequences for CD248
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CD248
- Browse OriGene Inhibitory RNA Products For CD248
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD248
- genomics-online: shRNA clones - Search results for 97 available CD248 gene related products
- Overview of 97 available CD248 gene related products
-
Recommended
Clone Products
- Sino Biological Human cDNA Clone for CD248
- Addgene plasmids for CD248
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CD248
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- Overview of 97 available CD248 gene related products
-
Recommended
- orf clones - Search results for 97 available CD248 gene related products
- Overview of 97 available CD248 gene related products
-
Recommended
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for CD248 (Endosialin/CD248)
Expression for CD248 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Bone (Muscoskeletal System)
-
Dermis (Integumentary System)
- Zigzag Dermal Papilla Cells Dermal Papilla
- Guard Dermal Papilla Cells Dermal Papilla
- Detroit 551
-
Kidney (Urinary System)
- Metanephric Mesenchyme Cells Metanephric Mesenchyme
- S-shaped Body
-
Hair (Integumentary System)
- Zigzag Dermal Papilla Cells Dermal Papilla
- Guard Dermal Papilla Cells Dermal Papilla
-
Head Mesenchyme (Muscoskeletal System)
- Dental Mesenchymal Cells Branchial Arch 1
- Branchial Arch 1
-
Ovary (Reproductive System)
- Ovarian Mesenchymal Stroma Cells Ovary Interstitium
-
Tooth
- Dental Mesenchymal Cells Branchial Arch 1
- Brain (Nervous System)
- Gut Tube (Gastrointestinal Tract)
- Intestine (Gastrointestinal Tract)
- Limb (Muscoskeletal System)
- Cartilage (Muscoskeletal System)
- Fibroblasts
-
Placenta (Extraembryonic Tissues)
-
Adipose (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for CD248 Gene
This gene is overexpressed in Adipose - Subcutaneous (x6.6) and Adipose - Visceral (Omentum) (x4.5).
This gene is overexpressed in Urine (29.2), Cerebrospinal fluid (9.0), and Gallbladder (7.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CD248 Gene
NURSA nuclear receptor signaling pathways regulating expression of CD248 Gene:
CD248SOURCE GeneReport for Unigene cluster for CD248 Gene:
Hs.195727mRNA Expression by UniProt/SwissProt for CD248 Gene:
Q9HCU0-CD248_HUMAN
Tissue specificity:
Expressed in tumor endothelial cells but absent or barely detectable in normal endothelial cells. Expressed in metastatic lesions of the liver and during angiogenesis of corpus luteum formation and wound healing. Expressed in vascular endothelial cells of malignant tumors but not in normal blood vessels. Expressed in stromal fibroblasts.
Evidence on tissue expression from TISSUES for CD248 Gene
- Nervous system(4.3)
- Liver(4.1)
- Intestine(2.3)
- Muscle(2.2)
- Heart(2.1)
Primer Products
-
OriGene qPCR primer pairs for CD248
-
OriGene qPCR primer pairs and template standards for CD248
- genomics-online: primer clones - Search results for 97 available CD248 gene related products
- Overview of 97 available CD248 gene related products
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Recommended
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 CD248 Gene
Orthologs for CD248 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CD248 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | CD248 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | CD248 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Cd248 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | LOC100911882 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CD248 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CD248 34 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | cd248b 34 |
|
OneToMany | |
| cd248a 34 |
|
OneToMany |
- Species where no ortholog for CD248 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)
- 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)
Evolution for CD248 Gene
- ENSEMBL:
- Gene Tree for CD248 (if available)
- TreeFam:
- Gene Tree for CD248 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CD248: view image
Paralogs for CD248 Gene
Variants for CD248 Gene
| SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| VAR_036399 | A colorectal cancer sample | p.Leu6Phe | |||
| rs1000695166 | -- | 66,315,240(-) | G/A | coding_sequence_variant, synonymous_variant | |
| rs1002976090 | -- | 66,317,547(-) | T/C | upstream_transcript_variant | |
| rs1003127429 | -- | 66,316,649(-) | G/A | coding_sequence_variant, missense_variant | |
| rs1003282843 | -- | 66,319,008(-) | G/A | upstream_transcript_variant |
Residual Variation Intolerance Score:
90% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
6.56;
77.90% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CD248 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- CD248
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CD248 Gene
Disorders for CD248 Gene
Additional Disease Information for CD248
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No disorders were found for CD248 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CD248 Gene
Publications for CD248 Gene
- Molecular cloning and characterization of endosialin, a C-type lectin-like cell surface receptor of tumor endothelium. (PMID: 11084048) Christian S … Lenter MC (The Journal of biological chemistry 2001) 2 3 4 22 58
- Endosialin (TEM1, CD248) is a marker of stromal fibroblasts and is not selectively expressed on tumour endothelium. (PMID: 15862292) MacFadyen JR … Isacke CM (FEBS letters 2005) 3 4 22 58
- Characterization of cancer stroma markers: in silico analysis of an mRNA expression database for fibroblast activation protein and endosialin. (PMID: 16076089) Dolznig H … Garin-Chesa P (Cancer immunity 2005) 3 4 22 58
- Genes expressed in human tumor endothelium. (PMID: 10947988) St Croix B … Kinzler KW (Science (New York, N.Y.) 2000) 2 3 4 58
- Identification of endosialin, a cell surface glycoprotein of vascular endothelial cells in human cancer. (PMID: 1438285) Rettig WJ … Old LJ (Proceedings of the National Academy of Sciences of the United States of America 1992) 3 4 22 58
Products for CD248 Gene
- R&D Systems Antibodies for CD248 (Endosialin/CD248)
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- Taconic Biosciences Mouse Models for CD248
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- Humanized Mice
- Invitrogen Antibodies for CD248 (AFLGC-CD248)
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- antibodies-online: Search results for 84 available CD248 Antibodies ranked by validation data
- Compare Top CD248 Antibodies
- antibodies-online: Search results for 2 available CD248 Elisa Kits ranked by validation data
- Compare Top CD248 Elisa Kits
- Quality Products:
- antibodies-online: Search results for 7 available CD248 Proteins ranked by validation data
- Compare Top CD248 Proteins
- Quality Products:
- GeneTex CD248 Antibody for CD248
- Search GeneTex for Proteins for CD248
- Santa Cruz Biotechnology (SCBT) Antibodies for CD248
- Search Santa Cruz Biotechnology (SCBT) for CD248 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for CD248
- Horizon Cell Lines for CD248
- genomics-online: cdna clones - Search results for 97 available CD248 gene related products
- Overview of 97 available CD248 gene related products
- Recommended
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- Overview of 97 available CD248 gene related products
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- genomics-online: gRNA clones - Search results for 97 available CD248 gene related products
- Overview of 97 available CD248 gene related products
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- Overview of 97 available CD248 gene related products
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Sources for CD248 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)
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