Aliases for KMT2B Gene
Aliases for KMT2B Gene
- Lysine Methyltransferase 2B 2 3 5
- Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax Homolog, Drosophila) 4 2 3
- Myeloid/Lymphoid Or Mixed-Lineage Leukemia Protein 4 3 4
- Lysine (K)-Specific Methyltransferase 2B 2 3
- WBP-7 3 4
- HRX2 3 4
- MLL2 3 4
- MLL4 3 4
- TRX2 3 4
- WBP7 3 4
- Histone-Lysine N-Methyltransferase MLL4 3
- Histone-Lysine N-Methyltransferase 2B 3
External Ids for KMT2B Gene
- HGNC: 15840
- Entrez Gene: 9757
- Ensembl: ENSG00000272333
- OMIM: 606834
- UniProtKB: Q9UMN6
Previous GeneCards Identifiers for KMT2B Gene
- GC19P036214
- GC19P036217
- GC19P035801
- GC19P035830
- GC19P035847
- GC19P036006
- GC19P036169
Summaries for KMT2B Gene
-
This gene encodes a protein which contains multiple domains including a CXXC zinc finger, three PHD zinc fingers, two FY-rich domains, and a SET (suppressor of variegation, enhancer of zeste, and trithorax) domain. The SET domain is a conserved C-terminal domain that characterizes proteins of the MLL (mixed-lineage leukemia) family. This gene is ubiquitously expressed in adult tissues. It is also amplified in solid tumor cell lines, and may be involved in human cancer. Two alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene, however, the full length nature of the shorter transcript is not known. [provided by RefSeq, Jul 2008]
GeneCards Summary for KMT2B Gene
KMT2B (Lysine Methyltransferase 2B) is a Protein Coding gene. Diseases associated with KMT2B include Myeloid/Lymphoid Or Mixed Lineage Leukemia and Spindle Cell Sarcoma. Among its related pathways are Lysine degradation and PKMTs methylate histone lysines. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and histone methyltransferase activity (H3-K4 specific). An important paralog of this gene is KMT2A.
UniProtKB/Swiss-Prot for KMT2B Gene
-
Histone methyltransferase. Methylates Lys-4 of histone H3. H3 Lys-4 methylation represents a specific tag for epigenetic transcriptional activation. Plays a central role in beta-globin locus transcription regulation by being recruited by NFE2. Plays an important role in controlling bulk H3K4me during oocyte growth and preimplantation development. Required during the transcriptionally active period of oocyte growth for the establishment and/or maintenance of bulk H3K4 trimethylation (H3K4me3), global transcriptional silencing that preceeds resumption of meiosis, oocyte survival and normal zygotic genome activation.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KMT2B Gene
Genomics for KMT2B Gene
Regulatory Elements for KMT2B Gene
Enhancers for KMT2B Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around KMT2B on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for KMT2B Gene
- Chromosome:
- 19
- Start:
- 35,717,995 bp from pter
- End:
- 35,738,880 bp from pter
- Size:
- 20,886 bases
- Orientation:
- Plus strand
Genomic View for KMT2B Gene
Genes around KMT2B on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19q13.12 by Ensembl
- 19q13.12 by Entrez Gene
- 19q13.12 by HGNC
KMT2B 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 KMT2B Gene
Proteins for KMT2B Gene
-
Protein details for KMT2B Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9UMN6-KMT2B_HUMAN
- Recommended name:
- Histone-lysine N-methyltransferase 2B
- Protein Accession:
- Q9UMN6
- O15022
- O95836
- Q96GP2
- Q96IP3
- Q9UK25
- Q9Y668
- Q9Y669
Protein attributes for KMT2B Gene
- Size:
- 2715 amino acids
- Molecular mass:
- 293515 Da
- Quaternary structure:
-
- Component of the menin-associated histone methyltransferase complex, at least composed of KMT2B/MLL4, ASH2L, RBBP5, WDR5, DPY30, MEN1; the complex interacts with POLR2A and POLR2B via MEN1. Interacts with NFE2. Interacts with KDM6B.
Protein Expression for KMT2B Gene
Post-translational modifications for KMT2B Gene
Other Protein References for KMT2B Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for KMT2B
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- antibodies-online Antibodies for KMT2B: See all 78
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-
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Protein Products
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- antibodies-online Proteins for KMT2B: See all 23
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Assay Products
- antibodies-online Kits for KMT2B: See all 9
No data available for DME Specific Peptides for KMT2B Gene
Domains & Families for KMT2B Gene
Gene Families for KMT2B Gene
Protein Domains for KMT2B Gene
Suggested Antigen Peptide Sequences for KMT2B Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9UMN6UniProtKB/Swiss-Prot:
KMT2B_HUMAN :- Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily.
- Family:
-
- Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily.
Function for KMT2B Gene
Molecular function for KMT2B Gene
- UniProtKB/Swiss-Prot CatalyticActivity:
- S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone].
- UniProtKB/Swiss-Prot Function:
- Histone methyltransferase. Methylates Lys-4 of histone H3. H3 Lys-4 methylation represents a specific tag for epigenetic transcriptional activation. Plays a central role in beta-globin locus transcription regulation by being recruited by NFE2. Plays an important role in controlling bulk H3K4me during oocyte growth and preimplantation development. Required during the transcriptionally active period of oocyte growth for the establishment and/or maintenance of bulk H3K4 trimethylation (H3K4me3), global transcriptional silencing that preceeds resumption of meiosis, oocyte survival and normal zygotic genome activation.
Enzyme Numbers (IUBMB) for KMT2B Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003700 | transcription factor activity, sequence-specific DNA binding | NAS | 10409430 |
| GO:0005515 | protein binding | IPI | 17474147 |
| GO:0008168 | methyltransferase activity | IEA | -- |
| GO:0008270 | zinc ion binding | IEA | -- |
Phenotypes for KMT2B Gene
- MGI mutant phenotypes for KMT2B:
-
inferred from 7 alleles
- mortality/aging
- cellular phenotype
- normal phenotype
- growth/size/body region phenotype
- nervous system phenotype
- homeostasis/metabolism phenotype
- cardiovascular system phenotype
- reproductive system phenotype
- endocrine/exocrine gland phenotype
- embryo phenotype
- liver/biliary system phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for KMT2B:
Animal Model Products
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-
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CRISPR Products
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OriGene CRISPR knockouts for KMT2B
-
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miRNA for KMT2B Gene
- miRTarBase miRNAs that target KMT2B
-
- hsa-mir-7515 (MIRT536433)
- hsa-mir-302a-5p (MIRT536434)
- hsa-mir-3154 (MIRT536435)
- hsa-mir-6782-3p (MIRT536436)
- hsa-mir-519c-3p (MIRT536437)
- hsa-mir-519b-3p (MIRT536438)
- hsa-mir-519a-3p (MIRT536439)
- hsa-mir-5692a (MIRT536440)
- hsa-mir-548t-5p (MIRT536441)
- hsa-mir-548az-5p (MIRT536442)
- hsa-mir-526b-3p (MIRT536443)
- hsa-mir-519d-3p (MIRT536444)
- hsa-mir-93-5p (MIRT536445)
- hsa-mir-20a-5p (MIRT536446)
- hsa-mir-17-5p (MIRT536447)
- hsa-mir-106b-5p (MIRT536448)
- hsa-mir-106a-5p (MIRT536449)
- hsa-mir-20b-5p (MIRT536450)
- hsa-mir-153-3p (MIRT536451)
- hsa-mir-1224-3p (MIRT556671)
miRNA Products
- Search ViGene Biosciences for KMT2B
Inhibitory RNA Products
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Clone Products
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OriGene ORF clones in human for KMT2B
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- VectorBuilder custom plasmid, inducible vectors for KMT2B
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for KMT2B
-
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
No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KMT2B Gene
Localization for KMT2B Gene
Subcellular locations from UniProtKB/Swiss-Prot for KMT2B Gene
- Nucleus.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA | 17500065 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0035097 | histone methyltransferase complex | IDA | 17500065 |
No data available for Subcellular locations from COMPARTMENTS for KMT2B Gene
Pathways & Interactions for KMT2B Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Chromatin organization | ||
| 2 | PKMTs methylate histone lysines | ||
| 3 | Lysine degradation | ||
Pathways by source for KMT2B Gene
1 GeneTex pathway for KMT2B Gene
1 BioSystems pathway for KMT2B Gene
3 Reactome pathways for KMT2B Gene
1 KEGG pathway for KMT2B Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001541 | ovarian follicle development | IEA | -- |
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0007613 | memory | IEA | -- |
| GO:0009994 | oocyte differentiation | IEA | -- |
No data available for SIGNOR curated interactions for KMT2B Gene
Drugs & Compounds for KMT2B Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| L-Lysine | Approved | Nutra | Full agonist, Agonist | 0 | ||
| S-Adenosylmethionine | Approved | Nutra | 0 | |||
| s-adenosylhomocysteine | Experimental | Pharma | 0 | |||
| Chaetocin | Pharma | SUV39H1 Inhibitor, SUV39H1 inhibitor | 0 | |||
| UNC 2400 | Pharma | negative control of UNC1999, Negative control of UNC 1999 (Cat. No. 4904) | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| (S)-PFI 2 hydrochloride |
|
1627607-88-8 |
|
|
||
| OICR 9429 |
|
|
|
|||
| UNC 0638 |
|
1255517-77-1 |
|
|
(5) Tocris Compounds for KMT2B Gene
| Compound | Action | Cas Number |
|---|---|---|
| (S)-PFI 2 hydrochloride | Negative control of (R)-PFI 2 hydrochloride (Cat. No. 4892) | 1627607-88-8 |
| Chaetocin | SUV39H1 inhibitor | 28097-03-2 |
| OICR 9429 | High affinity and selective WDR5 antagonist | |
| UNC 0638 | Selective G9a and GLP inhibitor | 1255517-77-1 |
| UNC 2400 | Negative control of UNC 1999 (Cat. No. 4904) | 1433200-49-7 |
Transcripts for KMT2B Gene
mRNA/cDNA for KMT2B Gene
- (6) REFSEQ mRNAs :
- (436) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for KMT2B
-
Santa Cruz Biotechnology (SCBT) CRISPR for KMT2B
- GenScript: Design CRISPR guide RNA sequences for KMT2B
miRNA Products
- Search ViGene Biosciences for KMT2B
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for KMT2B
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- Search ViGene Biosciences for KMT2B
Clone Products
-
OriGene ORF clones in human for KMT2B
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Addgene plasmids for KMT2B
- VectorBuilder custom plasmid, inducible vectors for KMT2B
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for KMT2B
-
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
Expression for KMT2B Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Bone (Muscoskeletal System)
This gene is overexpressed in Pancreatic juice (17.3), Peripheral blood mononuclear cells (12.3), Monocytes (8.8), and Testis (6.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KMT2B Gene
NURSA nuclear receptor signaling pathways regulating expression of KMT2B Gene:
KMT2BmRNA Expression by UniProt/SwissProt for KMT2B Gene:
Q9UMN6-KMT2B_HUMAN
Tissue specificity:
Widely expressed. Highest levels in testis. Also found in brain, bone marrow, heart, muscle, kidney, placenta, spleen, thymus, prostate, ovary, intestine, colon, peripheral blood lymphocytes and pancreas. Often amplified in pancreatic carcinomas.
Primer Products
-
OriGene qPCR primer pairs for KMT2B
No data available for mRNA differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for KMT2B Gene
Orthologs for KMT2B Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | -- 35 |
|
OneToOne | |
| LOC455959 34 |
|
||||
| cow (Bos Taurus) |
Mammalia | -- 35 |
|
OneToOne | |
| KMT2B 34 |
|
||||
| dog (Canis familiaris) |
Mammalia | -- 35 |
|
OneToOne | |
| MLL4 34 |
|
||||
| rat (Rattus norvegicus) |
Mammalia | LOC102550344 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Kmt2b 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | -- 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | Str.7192 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | kmt2ba 35 |
|
OneToMany | |
| kmt2bb 35 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | trx 35 |
|
OneToMany | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SET1 35 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToMany |
- Species where no ortholog for KMT2B 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)
- 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)
- 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)
Paralogs for KMT2B Gene
Variants for KMT2B Gene
| SNP ID | Clin | Chr 19 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1057519278 | Pathogenic | 35,732,955(+) | AGTCA(-/C)TCCCC | reference, frameshift-variant | |
| rs1057519279 | Pathogenic | 35,720,980(+) | CCCGG(C/T)GATTT | nc-transcript-variant, reference, stop-gained | |
| rs1057519280 | Pathogenic | 35,733,761(+) | CTCGC(A/G)GGCCC | splice-acceptor-variant | |
| rs1057519281 | Pathogenic | 35,721,775(+) | AGCAG(C/T)AGCAG | nc-transcript-variant, upstream-variant-2KB, reference, stop-gained | |
| rs1057519282 | Pathogenic | 35,719,507(+) | CCCCC(-/C)AGTTC | intron-variant, nc-transcript-variant, reference, frameshift-variant, utr-variant-5-prime |
Residual Variation Intolerance Score:
1.39% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
7.48;
82.13% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for KMT2B Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KMT2B Gene
Disorders for KMT2B Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| myeloid/lymphoid or mixed lineage leukemia |
|
|
| spindle cell sarcoma |
|
|
| corneal staphyloma |
|
|
| kabuki syndrome 1 |
|
|
Search KMT2B in MalaCards
View complete list of genes associated with diseases
Relevant External Links for KMT2B
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- KMT2B
No data available for UniProtKB/Swiss-Prot and Genatlas for KMT2B Gene
Publications for KMT2B Gene
- MLL2, the second human homolog of the Drosophila trithorax gene, maps to 19q13.1 and is amplified in solid tumor cell lines. (PMID: 10637508) Huntsman D.G. … Caldas C. (Oncogene 1999) 2 3 4 22 64
- MLL2: a new mammalian member of the trx/MLL family of genes. (PMID: 10409430) FitzGerald K.T. … Diaz M.O. (Genomics 1999) 2 3 4 64
- The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J. … Lucas S.M. (Nature 2004) 3 4 64
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
- Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9205841) Nagase T. … Ohara O. (DNA Res. 1997) 3 4 64
Products for KMT2B Gene
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- antibodies-online Antibodies for KMT2B: See all 78
- antibodies-online Kits for KMT2B: See all 9
- antibodies-online Proteins for KMT2B: See all 23
- Search antibodies-online for peptides
- GeneTex KMT2B antibody for KMT2B
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- Cyagen custom Knockout/knockin (KOKI) mouse models for KMT2B
- VectorBuilder custom plasmid, inducible vectors for KMT2B
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for KMT2B
- 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
Sources for KMT2B 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) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
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