Aliases for KMT2A Gene
Aliases for KMT2A Gene
- Lysine Methyltransferase 2A 2 3 5
- 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
- ALL-1 3 4
- CXXC7 3 4
- MLL1 3 4
- TRX1 3 4
- MLL 3 4
- HRX 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 Leukemia, Acute Lymphoblastic 3. Among its related pathways are PKMTs methylate histone lysines and Circadian rythm related genes. 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 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. Has weak methyltransferase activity by itself, and requires other component of the MLL1/MLL complex to obtain full methyltransferase activity. 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. Required for transcriptional activation of HOXA9. 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
- Monarch Initiative
- Search for KMT2A at DataMed
- Search for KMT2A at HumanCyc
No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KMT2A Gene
Genomics for KMT2A Gene
GeneHancer (GH) Regulatory Elements for KMT2A Gene
Promoters and enhancers for KMT2A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around KMT2A on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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)
Genomic View for KMT2A Gene
Genes around KMT2A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11q23.3 by Ensembl
- 11q23.3 by Entrez Gene
- 11q23.3 by HGNC
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. Interacts with WDR5; the interaction is direct. Interacts with KAT8/MOF; the interaction is direct. Interacts with SBF1 and PPP1R15A. Interacts with ZNF335. Interacts with CLOCK and ARNTL/BMAL1 in a circadian manner (By similarity).
- SequenceCaution:
-
- Sequence=AAA58669.1; Type=Frameshift; Positions=317, 380; Evidence={ECO:0000305}; Sequence=AAG26332.2; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAD92745.1; Type=Frameshift; Positions=1098; 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.
- Ubiquitination at posLast=216216, isoforms=2, 3220, isoforms=2, 3221, isoforms=2, 3645, isoforms=2, 33707, and isoforms=2, 33784
- Modification sites at PhosphoSitePlus
Other Protein References for KMT2A Gene
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for KMT2A
- Novus Biologicals Antibodies for KMT2A
-
Abcam antibodies for KMT2A
- Invitrogen Antibodies for KMT2A
- GeneTex KMT2A antibody for 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: Search results for 3 available MLL Proteins ranked by validation data
- Compare Top MLL Proteins
-
Quality Products:
- Search GeneTex for Proteins for KMT2A
Assay Products
- antibodies-online: Search results for available MLL related products ranked by validation data
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:
- ProtoNet:
Suggested Antigen Peptide Sequences for KMT2A Gene
- GenScript: Design optimal peptide antigens:
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 bind to nonmethyl-CpG dinucleotides.
- 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 CatalyticActivity:
- S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone].
- 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. Has weak methyltransferase activity by itself, and requires other component of the MLL1/MLL complex to obtain full methyltransferase activity. 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. Required for transcriptional activation of HOXA9. 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).
Enzyme Numbers (IUBMB) for KMT2A Gene
Phenotypes From GWAS Catalog for KMT2A Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001046 | core promoter sequence-specific DNA binding | ISS | -- |
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003680 | AT DNA binding | NAS | 1423624 |
| GO:0003682 | chromatin binding | IEA | -- |
| GO:0003700 | DNA binding transcription factor activity | NAS | 10821850 |
Phenotypes for KMT2A Gene
- MGI mutant phenotypes for KMT2A:
-
inferred from 22 alleles
- nervous system phenotype
- normal phenotype
- homeostasis/metabolism phenotype
- muscle phenotype
- cardiovascular system phenotype
- mortality/aging
- immune system phenotype
- cellular phenotype
- behavior/neurological phenotype
- growth/size/body region phenotype
- neoplasm
- reproductive system phenotype
- hearing/vestibular/ear phenotype
- integument phenotype
- embryo phenotype
- hematopoietic system phenotype
- skeleton phenotype
- renal/urinary system phenotype
- liver/biliary system phenotype
- craniofacial phenotype
- no phenotypic analysis
- limbs/digits/tail phenotype
- GenomeRNAi human phenotypes for KMT2A:
Animal Models for KMT2A Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for KMT2A
-
-
ViGene Biosciences lentiviral particle packaged cDNA for KMT2A gene
-
ViGene Biosciences ready-to-package AAV shRNAs for KMT2A gene
- Search ViGene Biosciences for KMT2A
CRISPR Products
-
OriGene CRISPR knockouts for KMT2A
- genomics-online: gRNA clones - Search results for available KMT2A gene related products
- Applied Biological Materials CRISPR for KMT2A
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for KMT2A
- GenScript: Design CRISPR guide RNA sequences for KMT2A
miRNA for KMT2A Gene
- miRTarBase miRNAs that target KMT2A
-
- hsa-mir-128b (MIRT006587)
- 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)
- 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
- Search ViGene Biosciences for KMT2A
Inhibitory RNA Products
- Origene RNAi and shrna products in human, mouse, rat for KMT2A
- Browse OriGene Inhibitory RNA Products For KMT2A
- genomics-online: shRNA clones - Search results for available MLL gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for KMT2A gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for KMT2A
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for KMT2A
-
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
- Addgene plasmids for KMT2A
- genomics-online: cdna clones - Search results for available MLL gene related products
- orf clones - Search results for available KMT2A gene related products
- Applied Biological Materials Clones for KMT2A
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for KMT2A
-
ViGene Biosciences adenoviral particle packaged cDNA for KMT2A gene
-
ViGene Biosciences lentiviral particle packaged cDNA for KMT2A gene
-
ViGene Biosciences ready-to-package AAV shRNAs for KMT2A gene
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 |
| plasma membrane | 1 |
| extracellular | 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,IEA | 19556245 |
| GO:0071339 | MLL1 complex | IDA | 15960975 |
Pathways & Interactions for KMT2A Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Chromatin organization | ||
| 2 | PKMTs methylate histone lysines | ||
| 3 | Lysine degradation | ||
| 4 | Transcriptional misregulation in cancer | ||
| 5 | Chromatin Regulation / Acetylation | ||
Pathways by source for KMT2A Gene
1 GeneTex pathway for KMT2A Gene
3 BioSystems pathways for KMT2A Gene
3 Reactome pathways for KMT2A Gene
2 KEGG pathways for KMT2A Gene
1 Cell Signaling Technology pathway for KMT2A Gene
Interacting Proteins for KMT2A Gene
Selected Interacting proteins:
ENSP00000436786
Q03164-KMT2A_HUMAN
for KMT2A Gene via
STRING
UniProtKB
IID
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006306 | DNA methylation | IEA | -- |
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0006366 | transcription by RNA polymerase II | TAS | 10821850 |
| GO:0006461 | protein complex assembly | IDA | 15199122 |
Drugs & Compounds for KMT2A Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| s-adenosylmethionine |
|
29908-03-0 |
|
(3) ApexBio Compounds for KMT2A Gene
Transcripts for KMT2A Gene
mRNA/cDNA for KMT2A Gene
- (8) REFSEQ mRNAs :
- (459) Selected AceView cDNA sequences:
- (14) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for KMT2A
- genomics-online: gRNA clones - Search results for available KMT2A gene related products
- Applied Biological Materials CRISPR for KMT2A
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for KMT2A
- GenScript: Design CRISPR guide RNA sequences for KMT2A
miRNA Products
- Search ViGene Biosciences for KMT2A
Inhibitory RNA Products
- Origene RNAi and shrna products in human, mouse, rat for KMT2A
- Browse OriGene Inhibitory RNA Products For KMT2A
- genomics-online: shRNA clones - Search results for available MLL gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for KMT2A gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for KMT2A
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for KMT2A
-
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
- Addgene plasmids for KMT2A
- genomics-online: cdna clones - Search results for available MLL gene related products
- orf clones - Search results for available KMT2A gene related products
- Applied Biological Materials Clones for KMT2A
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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 | ^ |
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| 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: |
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, PaxDb, MaxQB, and MOPED for KMT2A Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of KMT2A Gene:
KMT2AmRNA 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(4.4)
- Blood(3)
- Lung(2.9)
- Heart(2.7)
- Bone marrow(2.6)
- Muscle(2.4)
- Intestine(2.2)
- Spleen(2.2)
- Kidney(2)
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
- genomics-online: primer clones - Search results for available KMT2A gene related products
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 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | KMT2A 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | KMT2A 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Kmt2a 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Kmt2a 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | KMT2A 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | KMT2A 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | KMT2A 34 |
|
OneToOne | |
| MLL 33 |
|
||||
| lizard (Anolis carolinensis) |
Reptilia | KMT2A 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | kmt2a 33 |
|
||
| Str.3868 33 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | kmt2a 34 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | trx 34 |
|
OneToMany | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SET1 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany |
- Species where no ortholog for KMT2A 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)
- 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 KMT2A Gene
(14) SIMAP similar genes for KMT2A Gene using alignment to 6 proteins:
Variants for KMT2A Gene
| SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1057519403 | likely-pathogenic, Wiedemann-Steiner syndrome | 118,499,835(+) | G/A | coding_sequence_variant, missense_variant | |
| rs1057519407 | pathogenic, Wiedemann-Steiner syndrome | 118,490,250(+) | G/A | splice_donor_variant | |
| rs1057519408 | pathogenic, Wiedemann-Steiner syndrome | 118,499,340(+) | TGTTTGT/TGT | coding_sequence_variant, frameshift | |
| rs1057519412 | likely-benign, Wiedemann-Steiner syndrome | 118,472,801(+) | A/G | coding_sequence_variant, intron_variant, missense_variant | |
| rs1057519618 | uncertain-significance, Wiedemann-Steiner syndrome | 118,473,777(+) | G/A | coding_sequence_variant, intron_variant, missense_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
(33) MalaCards diseases for KMT2A Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| wiedemann-steiner syndrome |
|
|
| leukemia, acute lymphoblastic 3 |
|
|
| acute myeloid leukemia with t(9;11)(p22;q23) |
|
|
| kabuki syndrome 1 |
|
|
| cornelia de lange syndrome 1 |
|
Search KMT2A in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
KMT2A_HUMAN- 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}.
- 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. {ECO:0000269 PubMed:10490642}.
- 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.
Additional Disease Information for KMT2A
No data available for Genatlas for KMT2A Gene
Publications for KMT2A Gene
- 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 22 58
- Taspase1: a threonine aspartase required for cleavage of MLL and proper HOX gene expression. (PMID: 14636557) Hsieh JJ … Korsmeyer SJ (Cell 2003) 3 4 22 58
- Human LPP gene is fused to MLL in a secondary acute leukemia with a t(3;11) (q28;q23). (PMID: 11433529) Dahéron L … Roche J (Genes, chromosomes & cancer 2001) 3 4 22 58
- ABI-1, a human homolog to mouse Abl-interactor 1, fuses the MLL gene in acute myeloid leukemia with t(10;11)(p11.2;q23). (PMID: 9694699) Taki T … Hayashi Y (Blood 1998) 3 4 22 58
- Fusion of the MLL gene with two different genes, AF-6 and AF-5alpha, by a complex translocation involving chromosomes 5, 6, 8 and 11 in infant leukemia. (PMID: 8950979) Taki T … Morishita K (Oncogene 1996) 3 4 22 58
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