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This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associa... See more...
Aliases for KMT2A Gene
Aliases for KMT2A Gene
- Lysine Methyltransferase 2A 2 3 5
- Histone-Lysine N-Methyltransferase 2A 2 3 4
- ALL-1 2 3 4
- CXXC7 2 3 4
- TRX1 2 3 4
- HRX 2 3 4
- Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax Homolog, Drosophila) 2 3
- Lysine (K)-Specific Methyltransferase 2A 2 3
- CXXC-Type Zinc Finger Protein 7 3 4
- Lysine N-Methyltransferase 2A 3 4
- Zinc Finger Protein HRX 3 4
- Trithorax-Like Protein 3 4
External Ids for KMT2A Gene
- HGNC: 7132
- Entrez Gene: 4297
- Ensembl: ENSG00000118058
- OMIM: 159555
- UniProtKB: Q03164
Previous HGNC Symbols for KMT2A Gene
- MLL
Previous GeneCards Identifiers for KMT2A Gene
- GC11P118311
- GC11P118313
Summaries for KMT2A Gene
-
This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]
GeneCards Summary for KMT2A Gene
KMT2A (Lysine Methyltransferase 2A) is a Protein Coding gene. Diseases associated with KMT2A include Wiedemann-Steiner Syndrome and Acute Myeloid Leukemia With T(9;11)(P22;Q23). Among its related pathways are Transcriptional misregulation in cancer and Lysine degradation. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and identical protein binding. An important paralog of this gene is KMT2B.
UniProtKB/Swiss-Prot Summary for KMT2A Gene
-
Histone methyltransferase that plays an essential role in early development and hematopoiesis. Catalytic subunit of the MLL1/MLL complex, a multiprotein complex that mediates both methylation of 'Lys-4' of histone H3 (H3K4me) complex and acetylation of 'Lys-16' of histone H4 (H4K16ac). In the MLL1/MLL complex, it specifically mediates H3K4me, a specific tag for epigenetic transcriptional activation (PubMed:12453419, PubMed:20677832, PubMed:26886794). Has weak methyltransferase activity by itself, and requires other component of the MLL1/MLL complex to obtain full methyltransferase activity (PubMed:19187761, PubMed:26886794). Has no activity toward histone H3 phosphorylated on 'Thr-3', less activity toward H3 dimethylated on 'Arg-8' or 'Lys-9', while it has higher activity toward H3 acetylated on 'Lys-9'. Binds to unmethylated CpG elements in the promoter of target genes and helps maintain them in the nonmethylated state (PubMed:20010842). Required for transcriptional activation of HOXA9 (PubMed:12453419, PubMed:20677832, PubMed:20010842). Promotes PPP1R15A-induced apoptosis. Plays a critical role in the control of circadian gene expression and is essential for the transcriptional activation mediated by the CLOCK-ARNTL/BMAL1 heterodimer. Establishes a permissive chromatin state for circadian transcription by mediating a rhythmic methylation of 'Lys-4' of histone H3 (H3K4me) and this histone modification directs the circadian acetylation at H3K9 and H3K14 allowing the recruitment of CLOCK-ARNTL/BMAL1 to chromatin (By similarity).
-
Lysine methyltransferases are enyzmes that catalyze the transfer of methyl groups from S-adenosylmethionine (SAM) to the lysine residues on histones, particularly histones H3 and H4. The dysregulation of this methylation is critical in the development of cancer.
Additional gene information for KMT2A Gene
- HGNC(7132)
- Entrez Gene(4297)
- Ensembl(ENSG00000118058)
- OMIM(159555)
- UniProtKB(Q03164)
- Open Targets Platform(ENSG00000118058)
- Monarch Initiative
- Search for KMT2A at DataMed
- Search for KMT2A at HumanCyc
No data available for PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KMT2A Gene
Genomics for KMT2A Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for KMT2A 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 KMT2A on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KMT2A
Genomic Locations for KMT2A Gene
Genomic Locations for KMT2A Gene
- chr11:118,436,490-118,526,832
- (GRCh38/hg38)
- Size:
- 90,343 bases
- Orientation:
- Plus strand
- chr11:118,307,205-118,397,539
- (GRCh37/hg19)
- Size:
- 90,335 bases
- Orientation:
- Plus strand
Genomic View for KMT2A Gene
Genes around KMT2A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11q23.3 by HGNC
- 11q23.3 by Entrez Gene
- 11q23.3 by Ensembl
KMT2A 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 KMT2A Gene
Proteins for KMT2A Gene
-
Protein details for KMT2A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q03164-KMT2A_HUMAN
- Recommended name:
- Histone-lysine N-methyltransferase 2A
- Protein Accession:
- Q03164
- E9PQG7
- Q13743
- Q13744
- Q14845
- Q16364
- Q59FF2
- Q6UBD1
- Q9HBJ3
- Q9UD94
- Q9UMA3
Protein attributes for KMT2A Gene
- Size:
- 3969 amino acids
- Molecular mass:
- 431764 Da
- Quaternary structure:
-
- MLL cleavage product N320 heterodimerizes with MLL cleavage product C180 (via SET and FYRC domains). Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1/HCF1, HCFC2, WDR5, DPY30 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MEN1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10 (PubMed:15199122, PubMed:15960975, PubMed:17500065, PubMed:19556245, PubMed:19187761, PubMed:26886794). Interacts (via WIN motif) with WDR5; the interaction is direct (PubMed:19556245, PubMed:18829459, PubMed:22665483, PubMed:18840606). Interaction with WDR5 is required for stable interaction with ASH2L and RBBP5, and thereby also for optimal histone methyltransferase activity (PubMed:26886794). Interacts with KAT8/MOF; the interaction is direct (PubMed:15960975). Interacts with SBF1 and PPP1R15A (PubMed:9537414, PubMed:10490642). Interacts with ZNF335 (PubMed:23178126). Interacts with CLOCK and ARNTL/BMAL1 in a circadian manner (By similarity). Interacts with PPIE; this results in decreased histone H3 methyltransferase activity (PubMed:20677832, PubMed:20541251). Interacts with CREBBP (PubMed:16253272). Interacts with the WRAD complex composed of WDR5, RBBP5, ASH2L and DPY30 (PubMed:22665483). Interacts (via MBM motif) with MEN1 (PubMed:22936661, PubMed:22327296, PubMed:25305204). Interacts (via IBM motifs) with PSIP1 (via IBD domain) with moderate affinity whereas the KMT2A-MEN1 complex interacts with a greater affinity; MEN1 enhances interaction of KMT2A with PSIP1 (PubMed:22327296, PubMed:25305204, PubMed:25082813, PubMed:29997176). Phosphorylation increases its affinity for PSIP1 (PubMed:29997176). Forms a complex with CREBBP and CREB1 (PubMed:23651431).
- SequenceCaution:
-
- Sequence=AAA58669.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAG26332.2; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAD92745.1; Type=Frameshift; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for KMT2A Gene
Protein Expression for KMT2A Gene
Post-translational modifications for KMT2A Gene
- Proteolytic cleavage by TASP1 generates MLL cleavage product N320 and MLL cleavage product C180, which reassemble through a non-covalent association. 2 cleavage sites exist, cleavage site 1 (CS1) and cleavage site 2 (CS2), to generate MLL cleavage products N320 and C180. CS2 is the major site.
- Phosphorylation increases its interaction with PSIP1.
-
Glycosylation at Asn1601
- NX_Q03164 (NX_Q03164-1)
-
Ubiquitination at Lys645, Lys3707, and Lys3784
- NX_Q03164 (NX_Q03164-1)
- Modification sites at PhosphoSitePlus
-
Glycosylation from GlyConnect
- KMT2A_HUMAN (2046)
Other Protein References for KMT2A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- HUABIO KMT2A antibody
-
Custom Antibody ServicesOriGene Antibodies for KMT2A
- Novus Biologicals Antibodies for KMT2A
-
Abcam antibodies for KMT2A
- Invitrogen Antibodies for KMT2A (AFLGC-KMT2A)
-
Santa Cruz Biotechnology (SCBT) Antibodies for KMT2A
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for KMT2A
- Origene Custom Protein Services for KMT2A
- Novus Biologicals proteins for KMT2A
- antibodies-online: Show 3 available MLL Proteins ranked by validation data
- Compare Top MLL Proteins
-
Quality Products:
No data available for DME Specific Peptides for KMT2A Gene
Domains & Families for KMT2A Gene
Gene Families for KMT2A Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Enzymes
- Plasma proteins
- Potential drug targets
- Predicted intracellular proteins
- Transcription factors
Protein Domains for KMT2A Gene
- InterPro:
- Blocks:
-
- Zn-finger-like, PHD finger
- Nuclear protein SET
- SET-related region
- Zn-finger, CXXC type
- FY-rich domain, N-terminal
- ProtoNet:
Suggested Antigen Peptide Sequences for KMT2A Gene
- GenScript: Design optimal peptide antigens:
-
- Zinc finger protein HRX (MLL1_HUMAN)
- MLL protein (Q9HBJ3_HUMAN)
- MLL protein (Q9HBJ4_HUMAN)
- ALL-1 protein (Q9UBJ5_HUMAN)
- MLL protein (Q9UM91_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q03164UniProtKB/Swiss-Prot:
KMT2A_HUMAN :- The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.
- Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily.
- Domain:
-
- The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.
- The SET domain structure is atypical and is not in an optimal position to have methyltransferase activity. It requires other components of the MLL1/MLL complex, such as ASH2L or RBBP5, to order the active site and obtain optimal histone methyltransferase activity.
- The CXXC-type zinc finger binds to DNA sequence elements containing unnmethylated CpG dinucleotides.
- The third PHD-type zinc-finger binds both trimethylated histone H3K4me3 and PPIE; histone and PPIE bind to distinct surfaces (PubMed:20677832, PubMed:20541251). Nevertheless, PPIE binding and histone binding are mutually inhibitory (PubMed:20677832). Isomerization of a peptidylproline bond in the linker between the third PHD-type zinc-finger and the bromo domain disrupts the interaction between the bromo domain and the third PHD-type zinc-finger, and thereby facilitates interaction with PPIE (PubMed:20541251).
- Family:
-
- Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily.
Function for KMT2A Gene
Molecular function for KMT2A Gene
- UniProtKB/Swiss-Prot Function:
- Histone methyltransferase that plays an essential role in early development and hematopoiesis. Catalytic subunit of the MLL1/MLL complex, a multiprotein complex that mediates both methylation of 'Lys-4' of histone H3 (H3K4me) complex and acetylation of 'Lys-16' of histone H4 (H4K16ac). In the MLL1/MLL complex, it specifically mediates H3K4me, a specific tag for epigenetic transcriptional activation (PubMed:12453419, PubMed:20677832, PubMed:26886794). Has weak methyltransferase activity by itself, and requires other component of the MLL1/MLL complex to obtain full methyltransferase activity (PubMed:19187761, PubMed:26886794). Has no activity toward histone H3 phosphorylated on 'Thr-3', less activity toward H3 dimethylated on 'Arg-8' or 'Lys-9', while it has higher activity toward H3 acetylated on 'Lys-9'. Binds to unmethylated CpG elements in the promoter of target genes and helps maintain them in the nonmethylated state (PubMed:20010842). Required for transcriptional activation of HOXA9 (PubMed:12453419, PubMed:20677832, PubMed:20010842). Promotes PPP1R15A-induced apoptosis. Plays a critical role in the control of circadian gene expression and is essential for the transcriptional activation mediated by the CLOCK-ARNTL/BMAL1 heterodimer. Establishes a permissive chromatin state for circadian transcription by mediating a rhythmic methylation of 'Lys-4' of histone H3 (H3K4me) and this histone modification directs the circadian acetylation at H3K9 and H3K14 allowing the recruitment of CLOCK-ARNTL/BMAL1 to chromatin (By similarity).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=L-lysyl(4)-[histone H3] + 3 S-adenosyl-L-methionine = 3 H(+) + N(6),N(6),N(6)-trimethyl-L-lysyl(4)-[histone H3] + 3 S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:60260, Rhea:RHEA-COMP:15537, Rhea:RHEA-COMP:15547, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:61961; EC=2.1.1.354; Evidence={ECO:0000269|PubMed:12453419, ECO:0000269|PubMed:19187761, ECO:0000269|PubMed:26886794};.
Enzyme Numbers (IUBMB) for KMT2A Gene
Phenotypes From GWAS Catalog for KMT2A Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000976 | transcription regulatory region sequence-specific DNA binding | IDA | 20484083 |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003680 | AT DNA binding | NAS | 1423624 |
| GO:0005515 | protein binding | IPI | 11313484 |
Phenotypes for KMT2A Gene
- MGI mutant phenotypes for KMT2A:
-
inferred from 22 alleles
- nervous system phenotype
- immune system phenotype
- normal phenotype
- cardiovascular system phenotype
- cellular phenotype
- behavior/neurological phenotype
- mortality/aging
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- liver/biliary system phenotype
- renal/urinary system phenotype
- neoplasm
- reproductive system phenotype
- limbs/digits/tail phenotype
- hearing/vestibular/ear phenotype
- skeleton phenotype
- hematopoietic system phenotype
- integument phenotype
- embryo phenotype
- craniofacial phenotype
- no phenotypic analysis
- GenomeRNAi human phenotypes for KMT2A:
-
- Decreased hepcidin::fluc mRNA expression
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- Decreased vaccinia virus (VACV) infection
- Moderately decreased NFAT1-GFP nuclear translocation
- Decreased shRNA abundance (Z-score < -2)
- Synthetic lethal with Ras
- Strongly decreased CFP-tsO45G cell surface transport
- Reduced mammosphere formation
- Increased shRNA abundance (Z-score > 2)
Animal Models for KMT2A Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for KMT2A - Select products 50% OFF >
- * KMT2A CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for KMT2A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KMT2A
-
Santa Cruz Biotechnology (SCBT) CRISPR for KMT2A
miRNA for KMT2A Gene
- miRTarBase miRNAs that target KMT2A
-
- hsa-miR-128b (MIRT006587)
- mmu-miR-7b-5p (MIRT009410)
- mmu-miR-223-3p (MIRT009778)
- mmu-miR-324-3p (MIRT010955)
- mmu-miR-15a-5p (MIRT011874)
- mmu-miR-181a-5p (MIRT014344)
- mmu-miR-136-5p (MIRT015064)
- mmu-miR-9-5p (MIRT015480)
- hsa-miR-335-5p (MIRT017178)
- hsa-miR-16-5p (MIRT031581)
- hsa-let-7d-5p (MIRT032120)
- hsa-miR-320b (MIRT036224)
- hsa-miR-1227-3p (MIRT036400)
- hsa-miR-484 (MIRT042344)
- hsa-miR-320a (MIRT044681)
- hsa-miR-193a-3p (MIRT044880)
- hsa-miR-17-5p (MIRT051043)
- hsa-miR-199a-3p (MIRT128855)
- hsa-miR-183-3p (MIRT128858)
- hsa-miR-199b-3p (MIRT128859)
- hsa-miR-142-3p (MIRT128862)
- hsa-miR-616-3p (MIRT128878)
- hsa-miR-2052 (MIRT128885)
- hsa-miR-3127-5p (MIRT128890)
- hsa-miR-3129-5p (MIRT128891)
- hsa-miR-3153 (MIRT128892)
- hsa-miR-4452 (MIRT128905)
- hsa-miR-4632-5p (MIRT128909)
- hsa-miR-4699-3p (MIRT128911)
- hsa-miR-4436b-3p (MIRT128915)
- hsa-miR-6733-5p (MIRT128925)
- hsa-miR-6735-5p (MIRT128926)
- hsa-miR-6739-5p (MIRT128927)
- hsa-miR-6879-5p (MIRT128936)
- hsa-miR-7843-5p (MIRT128940)
- hsa-miR-27a-3p (MIRT128943)
- hsa-miR-30a-3p (MIRT128944)
- hsa-miR-30d-3p (MIRT128949)
- hsa-miR-27b-3p (MIRT128955)
- hsa-miR-30e-3p (MIRT128962)
- hsa-miR-5681a (MIRT179183)
- hsa-miR-3918 (MIRT179220)
- hsa-miR-106a-3p (MIRT179227)
- hsa-miR-129-1-3p (MIRT179228)
- hsa-miR-129-2-3p (MIRT179230)
- hsa-miR-450b-5p (MIRT179233)
- hsa-miR-3121-5p (MIRT179235)
- hsa-miR-302c-3p (MIRT264848)
- hsa-miR-520f-3p (MIRT264856)
- hsa-miR-374a-5p (MIRT440228)
- hsa-miR-218-5p (MIRT440229)
- hsa-miR-636 (MIRT441431)
- hsa-miR-450a-1-3p (MIRT441432)
- hsa-miR-4668-5p (MIRT441433)
- hsa-miR-5189-3p (MIRT441434)
- hsa-miR-6895-5p (MIRT441435)
- mmu-miR-3065-5p (MIRT582435)
- hsa-miR-6832-3p (MIRT623415)
- hsa-miR-6809-3p (MIRT623416)
- hsa-miR-6833-3p (MIRT623417)
- hsa-miR-4768-5p (MIRT623418)
- hsa-miR-4753-3p (MIRT623419)
- hsa-miR-130b-5p (MIRT623420)
- hsa-miR-1250-3p (MIRT623421)
- hsa-miR-3942-3p (MIRT702322)
- hsa-miR-302c-5p (MIRT702323)
- hsa-miR-215-5p (MIRT702324)
- hsa-miR-192-5p (MIRT702325)
- hsa-miR-3143 (MIRT702326)
- hsa-miR-4670-3p (MIRT702327)
- hsa-miR-6759-3p (MIRT702328)
- hsa-miR-6719-3p (MIRT702329)
- hsa-miR-4526 (MIRT702330)
- hsa-miR-3660 (MIRT702331)
- hsa-miR-6730-3p (MIRT702332)
- hsa-miR-624-3p (MIRT702333)
- hsa-miR-1293 (MIRT737152)
- hsa-miR-185-3p (MIRT738209)
- hsa-miR-30c-1-3p (MIRT739822)
- hsa-miR-30c-2-3p (MIRT739865)
- hsa-miR-3184-5p (MIRT740859)
- hsa-miR-363-5p (MIRT741830)
- hsa-miR-423-5p (MIRT743257)
- hsa-miR-4483 (MIRT745149)
- hsa-miR-4675 (MIRT746884)
- hsa-miR-4741 (MIRT748121)
- hsa-miR-541-3p (MIRT750375)
- hsa-miR-6085 (MIRT751798)
- hsa-miR-6134 (MIRT752433)
- hsa-miR-654-5p (MIRT753446)
- hsa-miR-671-5p (MIRT753707)
- hsa-miR-6716-5p (MIRT753720)
- hsa-miR-6731-5p (MIRT754010)
- hsa-miR-6743-3p (MIRT754401)
- hsa-miR-6745 (MIRT754457)
- hsa-miR-6748-5p (MIRT754549)
- hsa-miR-6756-5p (MIRT754796)
- hsa-miR-6766-5p (MIRT755104)
- hsa-miR-6769a-5p (MIRT755188)
- hsa-miR-6769b-5p (MIRT755234)
- hsa-miR-6788-5p (MIRT755974)
- hsa-miR-6813-5p (MIRT756734)
- hsa-miR-6871-5p (MIRT758024)
- hsa-miR-6873-5p (MIRT758069)
- hsa-miR-6878-5p (MIRT758212)
- hsa-miR-7974 (MIRT759983)
- hsa-miR-8085 (MIRT760213)
- hsa-miR-92a-2-5p (MIRT760562)
- hsa-miR-9500 (MIRT760886)
- hsa-miR-1178-5p (MIRT761181)
- hsa-miR-1180-3p (MIRT761186)
- hsa-miR-1301-3p (MIRT762396)
- hsa-miR-26a-1-3p (MIRT764284)
- hsa-miR-26a-2-3p (MIRT764287)
- hsa-miR-3926 (MIRT767716)
- hsa-miR-4660 (MIRT770779)
- hsa-miR-4778-5p (MIRT772240)
- hsa-miR-5047 (MIRT773092)
- hsa-miR-6850-3p (MIRT780382)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KMT2A
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Clone Products
- Applied Biological Materials (abm): Clones for KMT2A - Select products 50% OFF >
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- Addgene plasmids for KMT2A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KMT2A
Cell Line Products
-
Horizon Cell Lines for KMT2A
No data available for Transcription Factor Targets and HOMER Transcription for KMT2A Gene
Localization for KMT2A Gene
Subcellular locations from UniProtKB/Swiss-Prot for KMT2A Gene
- Nucleus.
- [MLL cleavage product N320]: Nucleus.
- [MLL cleavage product C180]: Nucleus. Note=Localizes to a diffuse nuclear pattern when not associated with MLL cleavage product N320.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| extracellular | 3 |
| cytoskeleton | 3 |
| plasma membrane | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 2 |
| endosome | 2 |
| lysosome | 2 |
| golgi apparatus | 2 |
| peroxisome | 1 |
- Nucleoplasm (3)
- Cytosol (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | NAS | 1423624 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005829 | cytosol | IDA | -- |
| GO:0035097 | histone methyltransferase complex | IDA | 19556245 |
| GO:0071339 | MLL1 complex | IEA,IDA | 15960975 |
Pathways & Interactions for KMT2A Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Chromatin organization | ||
| 2 | PKMTs methylate histone lysines | ||
| 3 | Chromatin Regulation / Acetylation | ||
| 4 | Aldosterone synthesis and secretion |
.41
|
|
| 5 | Lysine degradation | ||
Pathways by source for KMT2A Gene
3 BioSystems pathways for KMT2A Gene
3 Reactome pathways for KMT2A Gene
4 KEGG pathways for KMT2A Gene
1 Cell Signaling Technology pathway for KMT2A Gene
1 GeneTex pathway for KMT2A Gene
Interacting Proteins for KMT2A Gene
Selected Interacting proteins:
Q03164-KMT2A_HUMAN
ENSP00000436786
for KMT2A Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for KMT2A
SIGNOR curated interactions for KMT2A Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006325 | chromatin organization | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0006366 | transcription by RNA polymerase II | TAS | 10821850 |
| GO:0006915 | apoptotic process | IEA | -- |
| GO:0032259 | methylation | IEA | -- |
Drugs & Compounds for KMT2A Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Clotrimazole | Approved, Vet_approved | Pharma | Pore Blocker, Inhibition, Agonist, Antagonist, Channel blocker, Gating inhibitor | 3024 | ||
| Miconazole | Approved, Investigational, Vet_approved | Pharma | Channel blocker, Pore Blocker, Antagonist | 3024 | ||
| D-Lysine | Approved, Experimental | Nutra | Agonist, Full agonist | 0 | ||
| s-adenosylhomocysteine | Experimental | Pharma | 0 | |||
| Antifungal Agents | Pharma | 3011 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| s-adenosylmethionine |
|
485-80-3 |
|
(3) ApexBio Compounds for KMT2A Gene
Transcripts for KMT2A Gene
mRNA/cDNA for KMT2A Gene
- 3 REFSEQ mRNAs :
- 37 NCBI additional mRNA sequence :
- 24 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000389506 13678 nts (view in UCSC)
- ENST00000392873 866 nts (view in UCSC)
- ENST00000420751 237 nts (view in UCSC)
- ENST00000525408 857 nts (view in UCSC)
- ENST00000527839 4823 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for KMT2A - Select products 50% OFF >
- * KMT2A CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
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-
OriGene CRISPR knockouts for KMT2A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KMT2A
-
Santa Cruz Biotechnology (SCBT) CRISPR for KMT2A
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KMT2A
- Browse OriGene Inhibitory RNA Products For KMT2A
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Clone Products
- Applied Biological Materials (abm): Clones for KMT2A - Select products 50% OFF >
- * KMT2A as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Addgene plasmids for KMT2A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KMT2A
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | · | 17c | ^ | 18a | · | 18b | · | 18c | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP14: | - |
| ExUns: | 19 | ^ | 20a | · | 20b | · | 20c | · | 20d | ^ | 21 | ^ | 22a | · | 22b | ^ | 23a | · | 23b | ^ | 24 | ^ | 25a | · | 25b | · | 25c | ^ | 26 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||||||
| SP10: | |||||||||||||||||||||||||||||
| SP11: | |||||||||||||||||||||||||||||
| SP12: | |||||||||||||||||||||||||||||
| SP13: | |||||||||||||||||||||||||||||
| SP14: |
Relevant External Links for KMT2A Gene
- GeneLoc Exon Structure for
- KMT2A
Expression for KMT2A Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Gonad (Reproductive System)
- Testis Somatic Cells Primitive Gonad
-
Testis (Reproductive System)
- Testis Somatic Cells Primitive Gonad
This gene is overexpressed in Peripheral blood mononuclear cells (14.8), Adipocyte (12.1), Blymphocyte (9.4), and CD8 Tcells (6.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KMT2A Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KMT2A
mRNA Expression by UniProt/SwissProt for KMT2A Gene:
Q03164-KMT2A_HUMAN
Tissue specificity:
Heart, lung, brain and T- and B-lymphocytes.
Evidence on tissue expression from TISSUES for KMT2A Gene
- Nervous system(4.9)
- Liver(4.6)
- Lung(3.7)
- Blood(3.5)
- Intestine(3.3)
- Skin(3.3)
- Kidney(3.2)
- Heart(3.2)
- Muscle(3.1)
- Bone marrow(3)
- Spleen(2.9)
- Lymph node(2.7)
- Bone(2.6)
- Pancreas(2.5)
- Eye(2.5)
- Stomach(2.5)
- Thyroid gland(2.4)
- Adrenal gland(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for KMT2A Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- lymphatic
- nervous
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- nose
- outer ear
- skull
Limb:
- digit
- finger
- foot
- hand
- lower limb
- toe
- upper limb
General:
- blood
- bone marrow
- hair
- peripheral nerve
- peripheral nervous system
- skin
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for KMT2A
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues for KMT2A Gene
Orthologs for KMT2A Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | MLL 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | KMT2A 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | KMT2A 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Kmt2a 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Kmt2a 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | KMT2A 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | KMT2A 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | KMT2A 31 |
|
OneToOne | |
| MLL 30 |
|
||||
| Lizard (Anolis carolinensis) |
Reptilia | KMT2A 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | kmt2a 30 |
|
||
| Str.3868 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | kmt2a 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | trx 31 |
|
OneToMany | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SET1 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for KMT2A was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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)
- 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 Vase (Ciona intestinalis)
- 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 KMT2A Gene
- ENSEMBL:
- Gene Tree for KMT2A (if available)
- TreeFam:
- Gene Tree for KMT2A (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for KMT2A: view image
Paralogs for KMT2A Gene
Paralogs for KMT2A Gene
(14) SIMAP similar genes for KMT2A Gene using alignment to 6 proteins:
- KMT2A_HUMAN
- E9PR05_HUMAN
- H0YEU4_HUMAN
- H7BYJ6_HUMAN
- H7C5V8_HUMAN
- H7C5W4_HUMAN
Variants for KMT2A Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KMT2A Gene
| SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 664525 | Uncertain Significance: not provided | 118,522,068(+) | C/T | NONSENSE | |
| 666288 | Likely Pathogenic: Wiedemann-Steiner syndrome | 118,491,830(+) | C/T | NONSENSE | |
| 666323 | Likely Pathogenic: Wiedemann-Steiner syndrome | 118,504,072(+) | CAGAG/C | FRAMESHIFT_VARIANT | |
| 689770 | Pathogenic: Wiedemann-Steiner syndrome | 118,482,094(+) | T/A | SPLICE_DONOR_VARIANT | |
| 691252 | Pathogenic: Wiedemann-Steiner syndrome | 118,482,440(+) | AG/A | FRAMESHIFT_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv1284n100 | CNV | loss | 25217958 |
| esv3627872 | CNV | gain | 21293372 |
| nsv1044281 | CNV | gain | 25217958 |
| nsv512 | CNV | insertion | 18451855 |
| nsv513 | CNV | insertion | 18451855 |
| nsv819037 | CNV | loss | 19587683 |
| nsv826100 | CNV | gain | 20364138 |
Residual Variation Intolerance Score:
0.235% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.27;
62.58% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for KMT2A Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KMT2A Gene
Disorders for KMT2A Gene
(55) MalaCards diseases for KMT2A Gene - From: LncRNADisease, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| wiedemann-steiner syndrome |
|
|
| acute myeloid leukemia with t(9;11)(p22;q23) |
|
|
| kabuki syndrome 1 |
|
|
| cornelia de lange syndrome 1 |
|
|
| leukemia, acute lymphoblastic 3 |
|
Search KMT2A in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
KMT2A_HUMAN- Wiedemann-Steiner syndrome (WDSTS) [MIM:605130]: A syndrome characterized by hairy elbows (hypertrichosis cubiti), intellectual disability, a distinctive facial appearance, and short stature. Facial characteristics include long eyelashes, thick or arched eyebrows with a lateral flare, and downslanting and vertically narrow palpebral fissures. {ECO:0000269 PubMed:22795537}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Note=Chromosomal aberrations involving KMT2A are a cause of acute leukemias. Translocation t(1;11)(q21;q23) with MLLT11/AF1Q; translocation t(3;11)(p21;q23) with NCKIPSD/AF3p21; translocation t(3,11)(q25,q23) with GMPS; translocation t(4;11)(q21;q23) with AFF1/MLLT2/AF4; insertion ins(5;11)(q31;q13q23) with AFF4/AF5Q31; translocation t(5;11)(q12;q23) with AF5-alpha/CENPK; translocation t(6;11)(q27;q23) with AFDN; translocation t(9;11)(p22;q23) with MLLT3/AF9; translocation t(10;11)(p11.2;q23) with ABI1; translocation t(10;11)(p12;q23) with MLLT10/AF10; t(11;15)(q23;q14) with KNL1 and ZFYVE19; translocation t(11;17)(q23;q21) with MLLT6/AF17; translocation t(11;19)(q23;p13.3) with ELL; translocation t(11;19)(q23;p13.3) with MLLT1/ENL; translocation t(11;19)(q23;p23) with GAS7; translocation t(X;11)(q13;q23) with FOXO4/AFX1. Translocation t(3;11)(q28;q23) with LPP. Translocation t(10;11)(q22;q23) with TET1. Translocation t(9;11)(q34;q23) with DAB2IP. Translocation t(4;11)(p12;q23) with FRYL. Fusion proteins KMT2A-MLLT1, KMT2A-MLLT3 and KMT2A-ELL interact with PPP1R15A and, on the contrary to unfused KMT2A, inhibit PPP1R15A-induced apoptosis. Fusion protein KMT2A-MLLT3 interacts with MEN1 and PSIP1 (PubMed:22936661, PubMed:25305204). {ECO:0000269 PubMed:10490642, ECO:0000269 PubMed:22936661, ECO:0000269 PubMed:25305204}.
- Note=A chromosomal aberration involving KMT2A may be a cause of chronic neutrophilic leukemia. Translocation t(4;11)(q21;q23) with SEPT11. {ECO:0000269 PubMed:10490642}.
Additional Disease Information for KMT2A
No data available for Genatlas for KMT2A Gene
Publications for KMT2A Gene
- Identification of a novel RAS GTPase-activating protein (RASGAP) gene at 9q34 as an MLL fusion partner in a patient with de novo acute myeloid leukemia. (PMID: 14978793) von Bergh AR … Schuuring E (Genes, chromosomes & cancer 2004) 3 4 23
- FLJ10849, a septin family gene, fuses MLL in a novel leukemia cell line CNLBC1 derived from chronic neutrophilic leukemia in transformation with t(4;11)(q21;q23). (PMID: 14999297) Kojima K … Fujita S (Leukemia 2004) 3 4 23
- Taspase1: a threonine aspartase required for cleavage of MLL and proper HOX gene expression. (PMID: 14636557) Hsieh JJ … Korsmeyer SJ (Cell 2003) 3 4 23
- Proteolytic cleavage of MLL generates a complex of N- and C-terminal fragments that confers protein stability and subnuclear localization. (PMID: 12482972) Hsieh JJ … Korsmeyer SJ (Molecular and cellular biology 2003) 3 4 23
- Characterization of the MLL partner gene AF15q14 involved in t(11;15)(q23;q14). (PMID: 12618768) Kuefer MU … Morris SW (Oncogene 2003) 3 4 23
ExternalLinks
Products for KMT2A Gene
- Custom Antibody ServicesOriGene Antibodies for KMT2A
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- Browse OriGene Inhibitory RNA Products For KMT2A
- OriGene qPCR primer pairs for KMT2A
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- Novus Biologicals proteins for KMT2A
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- VectorBuilder Custom and pre-made DNA vectors for KMT2A (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for KMT2A (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for KMT2A (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for KMT2A CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for KMT2A
- Addgene plasmids for KMT2A
- antibodies-online: Show 41 available MLL Antibodies ranked by validation data
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- antibodies-online: Search results for available MLL related products ranked by validation data
- antibodies-online: Show 3 available MLL Proteins ranked by validation data
- Compare Top MLL Proteins
- Quality Products:
- Santa Cruz Biotechnology (SCBT) Antibodies for KMT2A
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- Search GeneCopoeia for miRNA 3'UTR Target clone products for KMT2A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KMT2A
Sources for KMT2A Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB