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Aliases for KMT2D Gene

Aliases for KMT2D Gene

  • Lysine (K)-Specific Methyltransferase 2D 2 3
  • MLL2 3 4 6
  • ALR 3 4 6
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia 2 2 3
  • Trinucleotide Repeat Containing 21 2 3
  • Lysine N-Methyltransferase 2D 3 4
  • ALL1-Related Protein 3 4
  • KABUK1 3 6
  • MLL4 3 4
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia Protein 2 4
  • Histone-Lysine N-Methyltransferase MLL2 3
  • Histone-Lysine N-Methyltransferase 2D 3
  • Kabuki Mental Retardation Syndrome 3
  • Kabuki Make-Up Syndrome 3
  • EC 4
  • CAGL114 3
  • TNRC21 3
  • AAD10 3
  • KMS 3

External Ids for KMT2D Gene

Previous HGNC Symbols for KMT2D Gene

  • TNRC21
  • MLL2

Previous GeneCards Identifiers for KMT2D Gene

  • GC12M049413

Summaries for KMT2D Gene

Entrez Gene Summary for KMT2D Gene

  • The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010]

GeneCards Summary for KMT2D Gene

KMT2D (Lysine (K)-Specific Methyltransferase 2D) is a Protein Coding gene. Diseases associated with KMT2D include kabuki syndrome 1 and kmt2d-related kabuki syndrome. Among its related pathways are Lysine degradation. GO annotations related to this gene include transcription regulatory region DNA binding and histone-lysine N-methyltransferase activity. An important paralog of this gene is KMT2C.

UniProtKB/Swiss-Prot for KMT2D Gene

  • Histone methyltransferase. Methylates Lys-4 of histone H3 (H3K4me). H3K4me represents a specific tag for epigenetic transcriptional activation. Acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription.

Gene Wiki entry for KMT2D Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KMT2D Gene

Genomics for KMT2D Gene

Genomic Location for KMT2D Gene

49,018,975 bp from pter
49,060,147 bp from pter
41,173 bases
Minus strand

Genomic View for KMT2D Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KMT2D Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KMT2D Gene

No data available for Regulatory Elements for KMT2D Gene

Proteins for KMT2D Gene

  • Protein details for KMT2D Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Histone-lysine N-methyltransferase 2D
    Protein Accession:
    Secondary Accessions:
    • O14687

    Protein attributes for KMT2D Gene

    5537 amino acids
    Molecular mass:
    593389 Da
    Quaternary structure:
    • Component of the MLL2/3 complex (also named ASCOM complex), at least composed of KMT2D/MLL2 or KMT2C/MLL3, ASH2L, RBBP5, WDR5, NCOA6, DPY30, KDM6A, PAXIP1/PTIP, PAGR1 and alpha- and beta-tubulin. Interacts with ESR1; interaction is direct.
    • This gene mapped to a chromosomal region involved in duplications and translocations associated with cancer

    Three dimensional structures from OCA and Proteopedia for KMT2D Gene

    Alternative splice isoforms for KMT2D Gene


neXtProt entry for KMT2D Gene

Proteomics data for KMT2D Gene at MOPED

Post-translational modifications for KMT2D Gene

  • Ubiquitination at Lys4465
  • Modification sites at PhosphoSitePlus

Other Protein References for KMT2D Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for KMT2D Gene

Domains for KMT2D Gene

Gene Families for KMT2D Gene

  • KMT :Chromatin-modifying enzymes / K-methyltransferases
  • PHF :Zinc fingers, PHD-type

Graphical View of Domain Structure for InterPro Entry



  • O14686
  • LXXLL motifs 5 and 6 are essential for the association with ESR1 nuclear receptor
  • Contains 1 FYR C-terminal domain.
  • Contains 1 FYR N-terminal domain.
  • Contains 1 post-SET domain.
  • Contains 1 SET domain.
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily.
  • Contains 5 PHD-type zinc fingers.
  • Contains 4 RING-type zinc fingers.
genes like me logo Genes that share domains with KMT2D: view

No data available for Suggested Antigen Peptide Sequences for KMT2D Gene

Function for KMT2D Gene

Molecular function for KMT2D 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. Methylates Lys-4 of histone H3 (H3K4me). H3K4me represents a specific tag for epigenetic transcriptional activation. Acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription.

Enzyme Numbers (IUBMB) for KMT2D Gene

Gene Ontology (GO) - Molecular Function for KMT2D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding NAS 9247308
GO:0005515 protein binding IPI 12482968
GO:0008168 methyltransferase activity --
GO:0008270 zinc ion binding IEA --
GO:0018024 histone-lysine N-methyltransferase activity --
genes like me logo Genes that share ontologies with KMT2D: view

Animal Model Products

CRISPR Products

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for KMT2D Gene

Localization for KMT2D Gene

Subcellular locations from UniProtKB/Swiss-Prot for KMT2D Gene

Gene Ontology (GO) - Cellular Components for KMT2D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS 9247308
GO:0005654 nucleoplasm TAS --
GO:0035097 histone methyltransferase complex IPI 14992727
genes like me logo Genes that share ontologies with KMT2D: view

No data available for Subcellular locations from COMPARTMENTS for KMT2D Gene

Pathways for KMT2D Gene

SuperPathways for KMT2D Gene

Superpath Contained pathways
1 Lysine degradation
genes like me logo Genes that share pathways with KMT2D: view

Pathways by source for KMT2D Gene

1 KEGG pathway for KMT2D Gene

Gene Ontology (GO) - Biological Process for KMT2D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001555 oocyte growth ISS --
GO:0006325 chromatin organization TAS --
GO:0006342 chromatin silencing ISS --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated NAS 9247308
genes like me logo Genes that share ontologies with KMT2D: view

Transcripts for KMT2D Gene

mRNA/cDNA for KMT2D Gene

(11) REFSEQ mRNAs :
(9) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KMT2D

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for KMT2D
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KMT2D Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^

ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37a · 37b ^ 38 ^ 39 ^ 40 ^ 41 ^ 42a · 42b
SP1: -
SP14: -

Relevant External Links for KMT2D Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for KMT2D Gene

mRNA expression in normal human tissues for KMT2D Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for KMT2D Gene

mRNA Expression by UniProt/SwissProt for KMT2D Gene

Tissue specificity: Expressed in most adult tissues, including a variety of hematoipoietic cells, with the exception of the liver
genes like me logo Genes that share expressions with KMT2D: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for KMT2D Gene

Orthologs for KMT2D Gene

This gene was present in the common ancestor of animals.

Orthologs for KMT2D Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia KMT2D 36
  • 99 (a)
LOC100610362 35
  • 99.4 (n)
  • 99.41 (a)
(Bos Taurus)
Mammalia KMT2D 36
  • 93 (a)
(Canis familiaris)
Mammalia KMT2D 36
  • 93 (a)
(Mus musculus)
Mammalia Kmt2d 35
  • 86.93 (n)
  • 89.28 (a)
Kmt2d 36
  • 88 (a)
Mll2 16
(Monodelphis domestica)
Mammalia KMT2D 36
  • 78 (a)
(Ornithorhynchus anatinus)
Mammalia KMT2D 36
  • 65 (a)
(Rattus norvegicus)
Mammalia Kmt2d 35
  • 86.58 (n)
  • 88.73 (a)
(Gallus gallus)
Aves -- 36
  • 55 (a)
-- 36
  • 41 (a)
(Anolis carolinensis)
Reptilia KMT2D 36
  • 59 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16861 35
tropical clawed frog
(Silurana tropicalis)
Amphibia kmt2d 35
  • 61.5 (n)
  • 62.2 (a)
Str.20172 35
(Danio rerio)
Actinopterygii kmt2d 36
  • 46 (a)
fruit fly
(Drosophila melanogaster)
Insecta trr 36
  • 26 (a)
(Caenorhabditis elegans)
Secernentea set-16 36
  • 27 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 52 (a)
Species with no ortholog for KMT2D:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)

Evolution for KMT2D Gene

Gene Tree for KMT2D (if available)
Gene Tree for KMT2D (if available)

Paralogs for KMT2D Gene

Paralogs for KMT2D Gene

Selected SIMAP similar genes for KMT2D Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with KMT2D: view

Variants for KMT2D Gene

Sequence variations from dbSNP and Humsavar for KMT2D Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs2024 -- 49,026,408(-) TTCCA(C/T)GCCAT reference, synonymous-codon
rs764941 Uncertain significance 49,048,707(+) ATGCA(C/G)AATAC missense, reference
rs764942 Uncertain significance 49,048,659(+) ATGCA(C/G)GTACC missense, reference
rs833817 -- 49,027,396(-) GGTGG(C/G)ATATG intron-variant
rs833818 -- 49,045,876(-) ACGTC(A/G)GACAT intron-variant

Relevant External Links for KMT2D Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for KMT2D Gene

Disorders for KMT2D Gene

MalaCards: The human disease database

MalaCards: The human disease database. (3) Diseases for KMT2D Gene including...

Search for KMT2D Gene in MalaCards »

(1) OMIM Diseases for KMT2D Gene (602113)


  • Kabuki syndrome 1 (KABUK1) [MIM:147920]: A congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids, a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy. {ECO:0000269 PubMed:20711175, ECO:0000269 PubMed:21280141}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with KMT2D: view

Publications for KMT2D Gene

  1. Structure and expression pattern of human ALR, a novel gene with strong homology to ALL-1 involved in acute leukemia and to Drosophila trithorax. (PMID: 9247308) Prasad R. … Canaani E. (Oncogene 1997) 2 3 4 23
  2. Identification of the MLL2 complex as a coactivator for estrogen receptor alpha. (PMID: 16603732) Mo R. … Zhu Y.-J. (J. Biol. Chem. 2006) 3 4
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4
  4. Activating signal cointegrator 2 belongs to a novel steady-state complex that contains a subset of trithorax group proteins. (PMID: 12482968) Goo Y.-H. … Lee J.W. (Mol. Cell. Biol. 2003) 3 4
  5. PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex. (PMID: 17500065) Cho Y.-W. … Ge K. (J. Biol. Chem. 2007) 3 4

Products for KMT2D Gene

Sources for KMT2D Gene

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