Aliases for FAM20B Gene
Aliases for FAM20B Gene
External Ids for FAM20B Gene
- HGNC: 23017
- Entrez Gene: 9917
- Ensembl: ENSG00000116199
- OMIM: 611063
- UniProtKB: O75063
Previous GeneCards Identifiers for FAM20B Gene
- GC01P175593
- GC01P176234
- GC01P175726
- GC01P177261
- GC01P178995
- GC01P150222
Summaries for FAM20B Gene
GeneCards Summary for FAM20B Gene
FAM20B (FAM20B, Glycosaminoglycan Xylosylkinase) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include kinase activity and phosphotransferase activity, alcohol group as acceptor. An important paralog of this gene is FAM20A.
UniProtKB/Swiss-Prot for FAM20B Gene
-
Responsible for the 2-O-phosphorylation of xylose in the glycosaminoglycan-protein linkage region of proteoglycans thereby regulating the amount of mature GAG chains. Sulfated glycosaminoglycans (GAGs), including heparan sulfate and chondroitin sulfate, are synthesized on the so-called common GAG-protein linkage region (GlcUAbeta1-3Galbeta1-3Galbeta1-4Xylbeta1-O-Ser) of core proteins, which is formed by the stepwise addition of monosaccharide residues by the respective specific glycosyltransferases. Xylose 2-O-phosphorylation may influence the catalytic activity of B3GAT3 (GlcAT-I) which completes the precursor tetrasaccharide of GAG-protein linkage regions on which the repeating disaccharide region is synthesized.
Additional gene information for FAM20B Gene
No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM20B Gene
Genomics for FAM20B Gene
GeneHancer (GH) Regulatory Elements for FAM20B Gene
Promoters and enhancers for FAM20B 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 FAM20B on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the FAM20B gene promoter:
-
- c-Ets-1
- GCNF-2
- GCNF-1
- GCNF
- AML1a
- GATA-3
- GATA-1
- GATA-2
- Evi-1
- POU3F2 (N-Oct-5a)
Regulatory Element Products
Genomic Locations for FAM20B Gene
Genomic Locations for FAM20B Gene
- chr1:179,025,804-179,076,567
- (GRCh38/hg38)
- Size:
- 50,764 bases
- Orientation:
- Plus strand
- chr1:178,994,939-179,045,702
- (GRCh37/hg19)
- Size:
- 50,764 bases
- Orientation:
- Plus strand
Genomic View for FAM20B Gene
Genes around FAM20B on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q25.2 by Entrez Gene
- 1q25.2 by HGNC
- 1q25.2 by Ensembl
FAM20B 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 FAM20B Gene
Proteins for FAM20B Gene
-
Protein details for FAM20B Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O75063-XYLK_HUMAN
- Recommended name:
- Glycosaminoglycan xylosylkinase
- Protein Accession:
- O75063
- Q5W0C3
- Q5W0C4
Protein attributes for FAM20B Gene
- Size:
- 409 amino acids
- Molecular mass:
- 46432 Da
- Cofactor:
- Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=BAA32320.2; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for FAM20B Gene
Post-translational modifications for FAM20B Gene
Other Protein References for FAM20B Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for FAM20B
- Invitrogen Antibodies for FAM20B (AFLGC-FAM20B)
- antibodies-online: Search results for 4 available FAM20B Antibodies ranked by validation data
- Compare Top FAM20B Antibodies
-
Quality Products:
- Search GeneTex for Antibodies for FAM20B
Protein Products
- R&D Systems Proteins and Enzymes for FAM20B
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for FAM20B
- Origene Custom Protein Services for FAM20B
- Sino Biological Recombinant Proteins for FAM20B
- Sino Biological Cell Lysates for FAM20B
- antibodies-online: Search results for 4 available FAM20B Proteins ranked by validation data
- Compare Top FAM20B Proteins
-
Quality Products:
- Search GeneTex for Proteins for FAM20B
Assay Products
- antibodies-online: Search results for 7 available FAM20B Elisa Kits ranked by validation data
- Compare Top FAM20B Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for FAM20B Gene
Domains & Families for FAM20B Gene
Gene Families for FAM20B Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for FAM20B Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for FAM20B Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O75063- Family:
-
- Belongs to the FAM20 family.
Function for FAM20B Gene
Molecular function for FAM20B Gene
- UniProtKB/Swiss-Prot Function:
- Responsible for the 2-O-phosphorylation of xylose in the glycosaminoglycan-protein linkage region of proteoglycans thereby regulating the amount of mature GAG chains. Sulfated glycosaminoglycans (GAGs), including heparan sulfate and chondroitin sulfate, are synthesized on the so-called common GAG-protein linkage region (GlcUAbeta1-3Galbeta1-3Galbeta1-4Xylbeta1-O-Ser) of core proteins, which is formed by the stepwise addition of monosaccharide residues by the respective specific glycosyltransferases. Xylose 2-O-phosphorylation may influence the catalytic activity of B3GAT3 (GlcAT-I) which completes the precursor tetrasaccharide of GAG-protein linkage regions on which the repeating disaccharide region is synthesized.
- UniProtKB/Swiss-Prot CatalyticActivity:
- ATP + D-xylose = ADP + D-xylose 2-phosphate.
Enzyme Numbers (IUBMB) for FAM20B Gene
Phenotypes From GWAS Catalog for FAM20B Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 25331875 |
| GO:0005524 | ATP binding | IEA | -- |
| GO:0016301 | kinase activity | IEA | -- |
| GO:0016740 | transferase activity | IEA | -- |
Phenotypes for FAM20B Gene
- MGI mutant phenotypes for FAM20B:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for FAM20B:
Animal Model Products
-
Taconic Biosciences Mouse Models for FAM20B
- Cyagen custom Knockout/knockin (KOKI) mouse models for FAM20B
-
CRISPR Products
-
OriGene CRISPR knockouts for FAM20B
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- genomics-online: gRNA clones - Search results for 110 available FAM20B gene related products
- Overview of 110 available FAM20B gene related products
- Applied Biological Materials CRISPR for FAM20B
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for FAM20B
- GenScript: Design CRISPR guide RNA sequences for FAM20B
miRNA for FAM20B Gene
- miRTarBase miRNAs that target FAM20B
-
- hsa-mir-193b-3p (MIRT016430)
- hsa-mir-215-5p (MIRT024806)
- hsa-mir-192-5p (MIRT026506)
- hsa-mir-26b-5p (MIRT029368)
- hsa-mir-21-5p (MIRT030835)
- hsa-mir-26a-5p (MIRT050059)
- hsa-mir-6873-3p (MIRT649547)
- hsa-mir-642a-5p (MIRT649548)
- hsa-mir-6895-3p (MIRT649549)
- hsa-mir-193a-5p (MIRT649550)
- hsa-mir-1236-3p (MIRT649551)
- hsa-mir-6515-3p (MIRT649552)
- hsa-mir-6817-3p (MIRT649553)
- hsa-mir-7110-3p (MIRT649554)
- hsa-mir-5193 (MIRT649555)
- hsa-mir-4667-3p (MIRT649556)
- hsa-mir-1470 (MIRT649557)
- hsa-mir-3156-5p (MIRT649558)
- hsa-mir-4772-3p (MIRT668424)
- hsa-mir-6787-3p (MIRT668425)
- hsa-mir-1304-3p (MIRT668426)
- hsa-mir-1281 (MIRT668427)
- hsa-mir-6736-3p (MIRT668428)
- hsa-mir-6890-3p (MIRT668429)
- hsa-mir-216a-5p (MIRT668430)
- hsa-mir-6875-3p (MIRT668431)
- hsa-mir-6512-5p (MIRT668432)
- hsa-mir-578 (MIRT703664)
- hsa-mir-449c-3p (MIRT703665)
- hsa-let-7d-3p (MIRT703666)
- hsa-mir-323a-3p (MIRT703667)
- hsa-mir-5580-3p (MIRT703668)
- hsa-mir-29b-2-5p (MIRT711552)
- hsa-mir-629-3p (MIRT711553)
- hsa-mir-519e-5p (MIRT711554)
- hsa-mir-515-5p (MIRT711555)
- hsa-mir-584-5p (MIRT711556)
- hsa-mir-92a-1-5p (MIRT711557)
- hsa-mir-5695 (MIRT711558)
- hsa-mir-519d-5p (MIRT711559)
- hsa-mir-758-5p (MIRT711560)
- hsa-mir-218-2-3p (MIRT711562)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FAM20B
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM20B
- genomics-online: shRNA clones - Search results for 110 available FAM20B gene related products
- Overview of 110 available FAM20B gene related products
Clone Products
- Sino Biological Human cDNA Clone for FAM20B
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FAM20B
- Applied Biological Materials Clones for FAM20B
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for FAM20B
No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM20B Gene
Localization for FAM20B Gene
Subcellular locations from UniProtKB/Swiss-Prot for FAM20B Gene
- Golgi apparatus membrane; Single-pass type II membrane protein.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| golgi apparatus | 5 |
| extracellular | 4 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
- Golgi apparatus (3)
- Nucleoplasm (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | IEA | -- |
| GO:0005615 | extracellular space | IEA,IBA | -- |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005794 | Golgi apparatus | IEA,IDA | 19473117 |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for FAM20B Gene
No Data Available
Interacting Proteins for FAM20B Gene
Selected Interacting proteins:
O75063-XYLK_HUMAN
ENSP00000263733
for FAM20B Gene via
UniProtKB
IID
STRING
GPS-Prot Interaction Network for FAM20B
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006468 | NOT protein phosphorylation | IBA | -- |
| GO:0016310 | phosphorylation | IEA | -- |
| GO:0030166 | proteoglycan biosynthetic process | IBA | -- |
| GO:1903955 | positive regulation of protein targeting to mitochondrion | IMP | -- |
No data available for Pathways by source and SIGNOR curated interactions for FAM20B Gene
Drugs & Compounds for FAM20B Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor | 58-64-0 |
|
Drug Products
Transcripts for FAM20B Gene
mRNA/cDNA for FAM20B Gene
- (5) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (232) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000440702 603 bps (uc057npb.1)
- ENST00000263733 5984 bps (uc001gmc.4)
Unigene Clusters for FAM20B Gene
CRISPR Products
-
OriGene CRISPR knockouts for FAM20B
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FAM20B
- genomics-online: gRNA clones - Search results for 110 available FAM20B gene related products
- Overview of 110 available FAM20B gene related products
- Applied Biological Materials CRISPR for FAM20B
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for FAM20B
- GenScript: Design CRISPR guide RNA sequences for FAM20B
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FAM20B
- Browse OriGene Inhibitory RNA Products For FAM20B
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM20B
- genomics-online: shRNA clones - Search results for 110 available FAM20B gene related products
- Overview of 110 available FAM20B gene related products
Clone Products
- Sino Biological Human cDNA Clone for FAM20B
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FAM20B
- Applied Biological Materials Clones for FAM20B
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for FAM20B Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Skeletal Muscle (Muscoskeletal System)
- Mononuclear Myocytes Hyoid Arch Muscles
- Mononuclear Myocytes Mandibular Arch Muscles
- Muscle Progenitor Cells Mandibular Arch Muscles
- Muscle Progenitor Cells Hyoid Arch Muscles
This gene is overexpressed in Breast (22.8), Peripheral blood mononuclear cells (15.3), Testis (7.7), and Placenta (6.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FAM20B Gene
NURSA nuclear receptor signaling pathways regulating expression of FAM20B Gene:
FAM20BSOURCE GeneReport for Unigene cluster for FAM20B Gene:
Hs.5737mRNA Expression by UniProt/SwissProt for FAM20B Gene:
O75063-XYLK_HUMAN
Tissue specificity:
Widely expressed. Strongly expressed in pancreas, spleen and fetal liver.
Evidence on tissue expression from TISSUES for FAM20B Gene
- Nervous system(4.4)
- Eye(4.2)
Primer Products
-
OriGene qPCR primer pairs for FAM20B
-
OriGene qPCR primer pairs and template standards for FAM20B
- genomics-online: primer clones - Search results for 110 available FAM20B gene related products
- Overview of 110 available FAM20B gene related products
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM20B Gene
Orthologs for FAM20B Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FAM20B 34 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | FAM20B 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | FAM20B 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | FAM20B 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | FAM20B 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Fam20b 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Fam20b 33 |
|
||
| chicken (Gallus gallus) |
Aves | FAM20B 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | FAM20B 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | fam20b 33 |
|
||
| MGC75786 33 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | fam20b 34 33 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | CG3631 34 33 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001051 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.9012 34 |
|
OneToOne | |
| Cin.6706 33 |
|
||||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.6706 33 |
|
- Species where no ortholog for FAM20B was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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)
- worm (Caenorhabditis elegans)
Evolution for FAM20B Gene
- ENSEMBL:
- Gene Tree for FAM20B (if available)
- TreeFam:
- Gene Tree for FAM20B (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for FAM20B: view image
Paralogs for FAM20B Gene
Variants for FAM20B Gene
| SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000005619 | -- | 179,035,749(+) | A/G | intron_variant | |
| rs1000094800 | -- | 179,047,724(+) | A/T | intron_variant | |
| rs1000102718 | -- | 179,067,556(+) | A/G | intron_variant | |
| rs1000146420 | -- | 179,057,906(+) | T/C | intron_variant | |
| rs1000257251 | -- | 179,051,496(+) | G/A/T | intron_variant |
Residual Variation Intolerance Score:
16.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.32;
26.26% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for FAM20B Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- FAM20B
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM20B Gene
Disorders for FAM20B Gene
Additional Disease Information for FAM20B
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No disorders were found for FAM20B Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM20B Gene
Publications for FAM20B Gene
- FAM20B is a kinase that phosphorylates xylose in the glycosaminoglycan-protein linkage region. (PMID: 19473117) Koike T … Kitagawa H (The Biochemical journal 2009) 2 3 4 58
- FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells. (PMID: 15676076) Nalbant D … Williams SC (BMC genomics 2005) 3 4 22 58
- Characterization of cDNA clones in size-fractionated cDNA libraries from human brain. (PMID: 9455484) Seki N … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1997) 2 3 4 58
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
- Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
Products for FAM20B Gene
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- Novus Biologicals
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- Taconic Biosciences Mouse Models for FAM20B
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for FAM20B (AFLGC-FAM20B)
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- antibodies-online: Search results for 4 available FAM20B Antibodies ranked by validation data
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- antibodies-online: Search results for 4 available FAM20B Proteins ranked by validation data
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- genomics-online: cdna clones - Search results for 110 available FAM20B gene related products
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Sources for FAM20B 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
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