KMT2A Gene (Protein Coding)

Lysine Methyltransferase 2A

GC11P118436
GIFtS:
46
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
  • HTRX1 2 3
  • MLL1A 2 3
  • MLL1 3 4
  • MLL 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
  • Mixed Lineage Leukemia 1 3
  • EC 2.1.1.354 4
  • WDSTS 3
  • KMT2A 5
  • 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 Acute Myeloid Leukemia With T(9;11)(P22;Q23). Among its related pathways are Senescence and Autophagy in Cancer and Chromatin Regulation / Acetylation. 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 ENSG00000285827.

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).

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 , Rfam classification and piRNA Summary for KMT2A Gene

Genomics for KMT2A Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for KMT2A Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH11J118433 Promoter/Enhancer 2.4 VISTA EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 281.6 +1.5 1480 8.3 CHD2 TBP ZBTB10 SP1 MXD4 SIX5 NR2C1 MNT IKZF1 SMAD5 KMT2A HSALNG0087534 HSALNG0087536 lnc-CD3D-9 VPS11 HINFP CENATAC ARCN1 IFT46 CENATAC-DT
GH11J119090 Promoter/Enhancer 2.1 Ensembl ENCODE CraniofacialAtlas dbSUPER 84.1 +657.2 657182 5.9 ZSCAN16 CHD2 ZBTB10 BCL11A SP1 MXD4 MNT DEK IKZF1 SMAD5 H2AX HSALNG0087614 KMT2A HINFP UBE4A RPL5P30 BCL9L VPS11 CENATAC ARCN1
GH11J118481 Promoter 0.3 EPDnew 250.3 +45.4 45356 0.1 NONHSAG009765.2 KMT2A lnc-IFT46-3 TTC36 ENSG00000285827
GH11J118603 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 31 +172.1 172138 9.9 TBP ZBTB10 FEZF1 CEBPA MNT IKZF1 SMAD5 HES1 MBD2 CTCF PHLDB1 lnc-IFT46-2 IFT46 TREHP1 KMT2A VPS11 LOC105369519 HINFP CENATAC TREH
GH11J118906 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 16.3 +482.7 482651 25.3 ARID3A CHD2 TBP ZBTB10 SP1 BCL11A MXD4 CEBPA SIX5 NR2C1 BCL9L UPK2 CENATAC VPS11 HINFP CENATAC-DT DPAGT1 RNF26 ARCN1 KMT2A
- 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

Latest Assembly
chr11:118,436,490-118,526,832
(GRCh38/hg38)
Size:
90,343 bases
Orientation:
Plus strand

Previous Assembly
chr11:118,307,207-118,397,547
(GRCh37/hg19 by Entrez Gene)
Size:
90,341 bases
Orientation:
Plus strand

chr11:118,307,205-118,397,539
(GRCh37/hg19 by Ensembl)
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:
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 Structure • Gene Density

RefSeq DNA sequence for KMT2A Gene

Proteins for KMT2A Gene

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  • 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 (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

    Alternative splice isoforms for KMT2A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KMT2A Gene

Protein Expression for KMT2A Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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
  • Ubiquitination at Lys645, Lys3707, and Lys3784
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • KMT2A_HUMAN (2046)

Other Protein References for KMT2A Gene

ENSEMBL proteins:
REFSEQ proteins:

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

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

Function for KMT2A Gene

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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

Gene Ontology (GO) - Molecular Function for KMT2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003680 AT DNA binding NAS 1423624
GO:0005515 protein binding IPI 11313484
GO:0008168 methyltransferase activity IEA --
GO:0008270 zinc ion binding IEA,IDA 16990798
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 Models for research

miRNA for KMT2A Gene

miRTarBase miRNAs that target KMT2A

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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.

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 2
extracellular 2
cytoskeleton 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 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 19556245
GO:0071339 MLL1 complex IEA,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 Cell Signaling Technology pathway for KMT2A Gene
1 GeneTex 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:0006325 chromatin organization IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006915 apoptotic process IEA --
GO:0032259 methylation IEA --
GO:0032411 positive regulation of transporter activity IMP 20861184
genes like me logo Genes that share ontologies with KMT2A: view

Drugs & Compounds for KMT2A Gene

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(28) Drugs for KMT2A Gene - From: ClinicalTrials, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Clotrimazole Approved, Vet_approved Pharma 3138
Miconazole Approved, Investigational, Vet_approved Pharma 3138
L-Lysine Approved Nutra 0
s-adenosylhomocysteine Experimental Pharma 0
Antifungal Agents Pharma 3126

(11) Additional Compounds for KMT2A Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
s-adenosylmethionine
  • (3S)-5'-[(3-Amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine, inner salt
  • [1-(Adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium
  • Acylcarnitine
  • AdoMet
  • S-(5'-Deoxyadenosin-5'-yl)-L-methionine
 485-80-3

(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

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Transcripts for KMT2A Gene

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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 :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KMT2A

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

Expression for KMT2A Gene

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

mRNA expression in normal human tissues for KMT2A Gene
mRNA expression by GTEx for KMT2A GenemRNA expression by BioGPS 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, MaxQB, and MOPED for KMT2A Gene



Protein tissue co-expression partners 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(4.5)
  • Lung(3.3)
  • Blood(3)
  • Intestine(2.7)
  • Bone marrow(2.7)
  • Kidney(2.6)
  • Spleen(2.4)
  • Skin(2.4)
  • Heart(2.3)
  • Muscle(2.2)
  • Lymph node(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
genes like me logo Genes that share expression patterns with KMT2A: view

Primer products for research

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 30 31
  • 99.67 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia KMT2A 30 31
  • 91.59 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia KMT2A 30 31
  • 91.13 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Kmt2a 30 17 31
  • 88.51 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Kmt2a 30
  • 88.47 (n)
Oppossum
(Monodelphis domestica)
 Mammalia KMT2A 31
  • 88 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia KMT2A 31
  • 75 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves KMT2A 31
  • 80 (a)
 OneToOne
MLL 30
  • 77.08 (n)
Lizard
(Anolis carolinensis)
 Reptilia KMT2A 31
  • 69 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia kmt2a 30
Str.3868 30
Zebrafish
(Danio rerio)
 Actinopterygii kmt2a 31
  • 47 (a)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta trx 31
  • 18 (a)
 OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes SET1 31
  • 20 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 35 (a)
 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
genes like me logo Genes that share paralogs with KMT2A: view

Variants for KMT2A Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

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
562035 Pathogenic: Wiedemann-Steiner syndrome 118,504,159(+) T/TA
NM_005933.4(KMT2A):c.8261dup (p.Ile2755fs) 		FRAMESHIFT
562045 Pathogenic: Wiedemann-Steiner syndrome 118,510,076(+) TC/T
NM_005933.4(KMT2A):c.11022del (p.Ser3675fs) 		FRAMESHIFT
813523 Likely Pathogenic: Microcephaly 118,506,109(+) C/G
NM_001197104.2(KMT2A):c.10217C>G (p.Ser3406Ter) 		NONSENSE
813524 Pathogenic: Microcephaly 118,473,709(+) TAA/T
NM_001197104.2(KMT2A):c.2552_2553del (p.Lys851fs) 		FRAMESHIFT
843507 Pathogenic: not provided 118,473,677(+) AC/A
NM_001197104.2(KMT2A):c.2522del (p.Pro841fs) 		FRAMESHIFT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KMT2A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for KMT2A Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for KMT2A Gene

MalaCards: The human disease database

(58) MalaCards diseases for KMT2A Gene - From: LNC, OMI, CVR, GTR, ORP, COP, and GCD

- 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
  • 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 variants 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

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

No data available for Genatlas for KMT2A Gene

Publications for KMT2A Gene

  1. De novo mutations in MLL cause Wiedemann-Steiner syndrome. (PMID: 22795537) Jones WD ā€¦ Simpson MA (American journal of human genetics 2012) 3 4 74
  2. 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 ā€¦ Schuuring E (Genes, chromosomes & cancer 2004) 3 4 23
  3. 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 ā€¦ Fujita S (Leukemia 2004) 3 4 23
  4. A t(11;15) fuses MLL to two different genes, AF15q14 and a novel gene MPFYVE on chromosome 15. (PMID: 12618766) Chinwalla V ā€¦ Rowley JD (Oncogene 2003) 3 4 23
  5. Characterization of the MLL partner gene AF15q14 involved in t(11;15)(q23;q14). (PMID: 12618768) Kuefer MU ā€¦ Morris SW (Oncogene 2003) 3 4 23

ExternalLinks

View latest publications for KMT2A gene in Mastermind

Products for KMT2A Gene

  • Addgene plasmids for KMT2A

Sources for KMT2A Gene