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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 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]
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.
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.
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 |
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 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Chromatin organization | ||
2 | PKMTs methylate histone lysines | ||
3 | Chromatin Regulation / Acetylation | ||
4 | Aldosterone synthesis and secretion |
.41
|
|
5 | Lysine degradation |
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 | -- |
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 |
|
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: |
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 |
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 |
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 |
|