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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
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax (Drosophila) Homolog) 2
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia Protein 1 4
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia 4
  • Histone-Lysine N-Methyltransferase 2A 3
  • Mixed Lineage Leukemia 1 3
  • EC 2.1.1.43 4
  • HTRX1 3
  • MLL1A 3
  • WDSTS 3
  • ALL1 4
  • HTRX 4

External Ids for KMT2A Gene

Previous HGNC Symbols for KMT2A Gene

  • MLL

Previous GeneCards Identifiers for KMT2A Gene

  • GC11P118311
  • GC11P118313

Summaries for KMT2A Gene

Entrez Gene Summary 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]

CIViC summary for KMT2A Gene

GeneCards Summary for KMT2A Gene

KMT2A (Lysine Methyltransferase 2A) is a Protein Coding gene. Diseases associated with KMT2A include Wiedemann-Steiner Syndrome and Cornelia De Lange Syndrome 1. Among its related pathways are Chromatin organization and Circadian rythm related genes. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding 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).

Tocris Summary for KMT2A Gene

  • 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.

Gene Wiki entry for KMT2A Gene

Additional gene information for KMT2A Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KMT2A Gene

Genomics for KMT2A Gene

Regulatory Elements for KMT2A Gene

Enhancers for KMT2A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H119090 1.6 Ensembl ENCODE dbSUPER 74.3 +657.2 657182 5 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 HINFP KMT2A VPS11 RPL5P30 CCDC84 UBE4A BCL9L ARCN1 IFT46 RNF26
GH11H118603 2 FANTOM5 Ensembl ENCODE dbSUPER 31 +172.1 172138 9 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 ZNF2 ZNF207 ZNF143 FOS IFT46 TREHP1 KMT2A VPS11 LOC105369519 HINFP CCDC84 TREH SETP16 ENSG00000254892
GH11H118433 1.9 VISTA Ensembl ENCODE dbSUPER 22.3 +1.6 1599 8 PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF766 VPS11 HINFP TMEM25 KMT2A CCDC84 IFT46 ARCN1 THY1 LOC101929089 ATP5L
GH11H118614 1.7 FANTOM5 ENCODE dbSUPER 20.3 +182.9 182880 9 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A YBX1 DMAP1 ZBTB7B TREHP1 LOC105369519 TREH KMT2A IFT46 MPZL2 RNU6-1157P ARCN1 RPL5P30 ENSG00000255384
GH11H117809 1.8 FANTOM5 Ensembl ENCODE dbSUPER 18.7 -626.9 -626863 0 HDGF ARNT YBX1 ZNF2 ZBTB7B ZNF207 NCOA1 REST SNIP1 MEF2D UBE4A ARCN1 DSCAML1 KMT2A SIDT2 FXYD2 MPZL2 RNF214 RPS27P19 DDX6
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KMT2A on UCSC Golden Path with GeneCards custom track

Promoters for KMT2A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000045630 210 4601 PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF766

Genomic Location for KMT2A Gene

Chromosome:
11
Start:
118,436,490 bp from pter
End:
118,526,832 bp from pter
Size:
90,343 bases
Orientation:
Plus strand

Genomic View for KMT2A Gene

Genes around KMT2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KMT2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KMT2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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

    Alternative splice isoforms for KMT2A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry 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

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

Suggested Antigen Peptide Sequences for KMT2A Gene

Graphical View of Domain Structure for InterPro Entry

Q03164

UniProtKB/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.
genes like me logo Genes that share domains with KMT2A: view

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

Gene Ontology (GO) - Molecular Function 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 transcription factor activity, sequence-specific DNA binding NAS 10821850
genes like me logo Genes that share ontologies with KMT2A: view
genes like me logo Genes that share phenotypes with KMT2A: view

Human Phenotype Ontology for KMT2A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KMT2A Gene

MGI Knock Outs for KMT2A:

Animal Model Products

CRISPR Products

miRNA for KMT2A Gene

miRTarBase miRNAs that target KMT2A

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for KMT2A
  • Applied Biological Materials Clones for KMT2A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KMT2A gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 1
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KMT2A Gene

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
genes like me logo Genes that share ontologies with KMT2A: view

Pathways & Interactions for KMT2A Gene

genes like me logo Genes that share pathways with KMT2A: view

Pathways by source for KMT2A Gene

1 GeneTex pathway for KMT2A Gene
1 Cell Signaling Technology pathway for KMT2A Gene

SIGNOR curated interactions for KMT2A Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for KMT2A Gene

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 from RNA polymerase II promoter TAS 10821850
GO:0006461 protein complex assembly IDA 15199122
genes like me logo Genes that share ontologies with KMT2A: view

Drugs & Compounds for KMT2A Gene

(27) Drugs for KMT2A Gene - From: ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Lysine Approved Nutra Full agonist, Agonist 0
s-adenosylhomocysteine Experimental Pharma 0
MI-2 Pharma Menin-MLL Inhibitor 0
MI-3 Pharma Menin-MLL Inhibitor 0
MM-102 Pharma MLL1 inhibitor,high-affinity peptidomimetic 0

(14) Additional Compounds for KMT2A Gene - From: Novoseek, Tocris, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
s-adenosylmethionine
  • (3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine
  • 2-S-Adenosyl-L-methionine
  • 5'-Deoxyadenosine-5'-L-methionine disulfate ditosylate
  • 5'-Deoxyadenosine-5'-L-methionine disulphate ditosylate
  • Active methionine
29908-03-0
(S)-PFI 2 hydrochloride
1627607-88-8
OICR 9429
UNC 0638
1255517-77-1

(5) Tocris Compounds for KMT2A 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

(3) ApexBio Compounds for KMT2A Gene

Compound Action Cas Number
MI-2 Menin-MLL Inhibitor 1271738-62-5
MI-3 Menin-MLL Inhibitor 1271738-59-0
MM-102 MLL1 inhibitor,high-affinity peptidomimetic 1417329-24-8
genes like me logo Genes that share compounds with KMT2A: view

Drug Products

Transcripts for KMT2A Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for KMT2A
  • Applied Biological Materials Clones for KMT2A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for KMT2A Gene

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
ECgene alternative splicing isoforms for
KMT2A

Expression for KMT2A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KMT2A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KMT2A Gene

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



Protein tissue co-expression partners for KMT2A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KMT2A Gene:

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(4.4)
  • 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
Organs:
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
genes like me logo Genes that share expression patterns with KMT2A: view

Primer 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.

Orthologs for KMT2A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MLL 34 33
  • 99.67 (n)
OneToOne
dog
(Canis familiaris)
Mammalia KMT2A 33 34
  • 91.59 (n)
cow
(Bos Taurus)
Mammalia KMT2A 33 34
  • 91.13 (n)
mouse
(Mus musculus)
Mammalia Kmt2a 33 16 34
  • 88.51 (n)
rat
(Rattus norvegicus)
Mammalia Kmt2a 33
  • 88.47 (n)
oppossum
(Monodelphis domestica)
Mammalia KMT2A 34
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KMT2A 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves KMT2A 34
  • 80 (a)
OneToOne
MLL 33
  • 77.08 (n)
lizard
(Anolis carolinensis)
Reptilia KMT2A 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kmt2a 33
Str.3868 33
zebrafish
(Danio rerio)
Actinopterygii kmt2a 34
  • 47 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta trx 34
  • 18 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SET1 34
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 35 (a)
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)

Evolution for KMT2A Gene

ENSEMBL:
Gene Tree for KMT2A (if available)
TreeFam:
Gene Tree for KMT2A (if available)

Paralogs for KMT2A Gene

Variants for KMT2A Gene

Sequence variations from dbSNP and Humsavar for KMT2A Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1057518074 Pathogenic 118,478,096(+) GCGGT(A/G)TGGGC reference, missense
rs1057518649 Pathogenic 118,473,477(+) CCCCC(-/C)GTCTT intron-variant, reference, frameshift-variant
rs1057519407 Pathogenic 118,490,250(+) TAAAG(A/G)TACCC splice-donor-variant
rs1057519408 Pathogenic 118,499,343(+) AGTGT(-/TTGT)GGACT reference, frameshift-variant
rs387907275 Pathogenic 118,503,036(+) ATGAT(C/T)GAGAC reference, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for KMT2A Gene

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

Variation tolerance for KMT2A Gene

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)

Relevant External Links for KMT2A Gene

Human Gene Mutation Database (HGMD)
KMT2A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KMT2A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KMT2A Gene

Disorders for KMT2A Gene

MalaCards: The human disease database

(33) MalaCards diseases for KMT2A Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
wiedemann-steiner syndrome
  • wss
cornelia de lange syndrome 1
  • amstelodamensis typus degenerativus
leukemia, acute lymphoblastic 3
  • acute lymphoblastic leukemia, susceptibility to 3
acute myeloid leukemia with t(9;11)(p22;q23)
  • aml with t(9;11)(p22;q23)
nipbl-related cornelia de lange syndrome
  • cornelia de lange syndrome 1
- elite association - COSMIC cancer census association via MalaCards
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.

Relevant External Links for KMT2A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KMT2A
genes like me logo Genes that share disorders with KMT2A: view

No data available for Genatlas for KMT2A Gene

Publications for KMT2A Gene

  1. 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 60
  2. 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 60
  3. 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 60
  4. 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 60
  5. 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 60

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