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Aliases for KMT2D Gene

Aliases for KMT2D Gene

  • Lysine Methyltransferase 2D 2 3
  • Lysine (K)-Specific Methyltransferase 2D 2 3 5
  • 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
  • MLL2 3 4
  • MLL4 3 4
  • ALR 3 4
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia Protein 2 4
  • Histone-Lysine N-Methyltransferase MLL2 3
  • Kabuki Mental Retardation Syndrome 3
  • Kabuki Make-Up Syndrome 3
  • EC 2.1.1.43 4
  • CAGL114 3
  • KABUK1 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 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 Signaling by GPCR and 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

Chromosome:
12
Start:
49,018,975 bp from pter
End:
49,061,895 bp from pter
Size:
42,921 bases
Orientation:
Minus strand

Genomic View for KMT2D Gene

Genes around KMT2D on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KMT2D Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    O14686-KMT2D_HUMAN
    Recommended name:
    Histone-lysine N-methyltransferase 2D
    Protein Accession:
    O14686
    Secondary Accessions:
    • O14687

    Protein attributes for KMT2D Gene

    Size:
    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.
    Miscellaneous:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for KMT2D Gene

Proteomics data for KMT2D Gene at MOPED

Post-translational modifications for KMT2D Gene

  • Ubiquitination at Lys 4465
  • Modification sites at PhosphoSitePlus

Other Protein References for KMT2D Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KMT2D Gene

Domains & Families for KMT2D Gene

Graphical View of Domain Structure for InterPro Entry

O14686

UniProtKB/Swiss-Prot:

KMT2D_HUMAN :
  • LXXLL motifs 5 and 6 are essential for the association with ESR1 nuclear receptor.
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily.
  • Contains 5 PHD-type zinc fingers.
Domain:
  • 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.
Family:
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily.
Similarity:
  • Contains 5 PHD-type zinc fingers.
  • Contains 4 RING-type zinc fingers.
genes like me logo Genes that share domains with KMT2D: view

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:0008168 methyltransferase activity IEA --
genes like me logo Genes that share ontologies with KMT2D: view
genes like me logo Genes that share phenotypes with KMT2D: view

Human Phenotype Ontology for KMT2D Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for KMT2D Gene

miRTarBase miRNAs that target KMT2D

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

Localization for KMT2D Gene

Subcellular locations from UniProtKB/Swiss-Prot for KMT2D Gene

No data available for Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for KMT2D Gene

Pathways & Interactions for KMT2D Gene

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

Pathways by source for KMT2D Gene

1 KEGG pathway for KMT2D Gene

SIGNOR curated interactions for KMT2D Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for KMT2D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006342 chromatin silencing ISS --
GO:0008284 positive regulation of cell proliferation IMP 16603732
GO:0033148 positive regulation of intracellular estrogen receptor signaling pathway IMP 16603732
GO:0043627 response to estrogen IDA 16603732
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IMP 16603732
genes like me logo Genes that share ontologies with KMT2D: view

Drugs & Compounds for KMT2D Gene

(7) Drugs for KMT2D Gene - From: ApexBio and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Entacapone Approved, Investigational Pharma COMT inhibitor, Potent COMT inhibitor; blocks alpha-synuclein aggregation 47
L-Lysine Approved Nutra Full agonist, Agonist 0
S-Adenosylmethionine Approved Nutra 0
s-adenosylhomocysteine Experimental Pharma 0
EPZ004777 Pharma DOT1L inhibitor 0
genes like me logo Genes that share compounds with KMT2D: view

Transcripts for KMT2D Gene

mRNA/cDNA for KMT2D Gene

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 ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

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: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: -
SP15:

Relevant External Links for KMT2D Gene

GeneLoc Exon Structure for
KMT2D
ECgene alternative splicing isoforms for
KMT2D

Expression for KMT2D Gene

mRNA expression in normal human tissues for KMT2D Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KMT2D Gene

This gene is overexpressed in Cervix (17.5), Gallbladder (17.2), and Blymphocyte (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KMT2D Gene



mRNA Expression by UniProt/SwissProt for KMT2D Gene

O14686-KMT2D_HUMAN
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 expression patterns with KMT2D: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners 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
chimpanzee
(Pan troglodytes)
Mammalia KMT2D 36
  • 99 (a)
OneToOne
LOC100610362 35
  • 99.4 (n)
  • 99.41 (a)
cow
(Bos Taurus)
Mammalia KMT2D 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KMT2D 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kmt2d 36
  • 88 (a)
OneToOne
Kmt2d 16
Kmt2d 35
  • 86.93 (n)
  • 89.28 (a)
oppossum
(Monodelphis domestica)
Mammalia KMT2D 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KMT2D 36
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kmt2d 35
  • 86.58 (n)
  • 88.73 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 55 (a)
OneToMany
-- 36
  • 41 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia KMT2D 36
  • 59 (a)
OneToOne
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
zebrafish
(Danio rerio)
Actinopterygii kmt2d 36
  • 46 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta trr 36
  • 26 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea set-16 36
  • 27 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 52 (a)
OneToOne
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

ENSEMBL:
Gene Tree for KMT2D (if available)
TreeFam:
Gene Tree for KMT2D (if available)

Paralogs for KMT2D Gene

Paralogs for KMT2D Gene

(3) 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
rs3782356 - 49,026,295(+) AGCGA(C/T)GATTG intron-variant, reference, missense
rs1064210 - 49,052,257(-) TGCCC(A/G)CATCC nc-transcript-variant, reference, missense
VAR_063830 Kabuki syndrome 1 (KABUK1)
VAR_063831 Kabuki syndrome 1 (KABUK1)
VAR_063832 Kabuki syndrome 1 (KABUK1)

Variation tolerance for KMT2D Gene

Residual Variation Intolerance Score: 0.0783% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.74; 78.82% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KMT2D Gene

HapMap Linkage Disequilibrium report
KMT2D
Human Gene Mutation Database (HGMD)
KMT2D

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

(12) MalaCards diseases for KMT2D Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
kabuki syndrome 1
  • kabuki syndrome
kmt2d-related kabuki syndrome
  • mll2-related kabuki syndrome
mental retardation, autosomal recessive 48
  • mrt48
cornelia de lange syndrome 4
  • cdls4
corneal staphyloma
- elite association - COSMIC cancer census association via MalaCards
Search KMT2D in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KMT2D_HUMAN
  • 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, ECO:0000269 PubMed:21607748, ECO:0000269 PubMed:21658225, ECO:0000269 PubMed:21671394, ECO:0000269 PubMed:22126750, ECO:0000269 PubMed:23320472, ECO:0000269 PubMed:23913813, ECO:0000269 PubMed:24739679}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KMT2D

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KMT2D
genes like me logo Genes that share disorders with KMT2D: view

No data available for Genatlas for KMT2D Gene

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 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  4. The mutational landscape in pediatric acute lymphoblastic leukemia deciphered by whole genome sequencing. (PMID: 25355294) Lindqvist C.M. … Berglund E.C. (Hum. Mutat. 2015) 3
  5. Structural analysis of the KANSL1/WDR5/KANSL2 complex reveals that WDR5 is required for efficient assembly and chromatin targeting of the NSL complex. (PMID: 24788516) Dias J. … Akhtar A. (Genes Dev. 2014) 3

Products for KMT2D Gene

Sources for KMT2D Gene

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