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Aliases for KMT2D Gene

Aliases for KMT2D Gene

  • Lysine Methyltransferase 2D 2 3 5
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia 2 2 3
  • Lysine (K)-Specific Methyltransferase 2D 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
  • Histone-Lysine N-Methyltransferase 2D 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 Chromatin organization and Signaling by GPCR. 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

Regulatory Elements for KMT2D Gene

Enhancers for KMT2D 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around KMT2D on UCSC Golden Path with GeneCards custom track

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

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

Post-translational modifications for KMT2D Gene

  • Ubiquitination at Lys 4465
  • Modification sites at PhosphoSitePlus

Other Protein References for KMT2D Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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:0003677 DNA binding NAS 9247308
GO:0005515 protein binding IPI 12482968
GO:0008270 zinc ion binding IEA --
GO:0018024 histone-lysine N-methyltransferase activity TAS --
GO:0042800 histone methyltransferase activity (H3-K4 specific) TAS --
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

Inhibitory RNA Products

Flow Cytometry Products

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

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
GO:0044666 MLL3/4 complex IDA 17500065
genes like me logo Genes that share ontologies with KMT2D: view

No data available for Subcellular locations from COMPARTMENTS for KMT2D Gene

Pathways & Interactions for KMT2D Gene

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

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:0001555 oocyte growth ISS --
GO:0006342 chromatin silencing ISS --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated NAS 9247308
GO:0008284 positive regulation of cell proliferation IMP 16603732
genes like me logo Genes that share ontologies with KMT2D: view

Drugs & Compounds for KMT2D Gene

(9) Drugs for KMT2D Gene - From: ApexBio, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Entacapone Approved, Investigational Pharma COMT inhibitor, Potent COMT inhibitor; blocks alpha-synuclein aggregation 49
L-Lysine Approved Nutra Full agonist, Agonist 0
S-Adenosylmethionine Approved Nutra 0
s-adenosylhomocysteine Experimental Pharma 0
EPZ004777 Pharma DOT1L inhibitor 0

(3) Additional Compounds for KMT2D Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(S)-PFI 2 hydrochloride
1627607-88-8
OICR 9429
UNC 0638
1255517-77-1

(5) Tocris Compounds for KMT2D 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

(4) ApexBio Compounds for KMT2D Gene

Compound Action Cas Number
Entacapone COMT inhibitor 130929-57-6
EPZ004777 DOT1L inhibitor 1338466-77-5
PFI-2 1627676-59-8
SGI-1027 DNMT inhibitor 1020149-73-8
genes like me logo Genes that share compounds with KMT2D: view

Transcripts for KMT2D Gene

mRNA/cDNA for KMT2D Gene

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

CRISPR Products

Inhibitory RNA Products

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 ^
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



NURSA nuclear receptor signaling pathways regulating expression of KMT2D Gene:

KMT2D

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

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
mouse
(Mus musculus)
Mammalia Kmt2d 34
  • 86.93 (n)
  • 89.28 (a)
Kmt2d 16
Kmt2d 35
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LOC100610362 34
  • 99.4 (n)
  • 99.41 (a)
KMT2D 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kmt2d 34
  • 86.58 (n)
  • 88.73 (a)
cow
(Bos Taurus)
Mammalia KMT2D 35
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KMT2D 35
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KMT2D 35
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KMT2D 35
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 35
  • 55 (a)
OneToMany
-- 35
  • 41 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia KMT2D 35
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kmt2d 34
  • 61.5 (n)
  • 62.2 (a)
Str.20172 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.16861 34
zebrafish
(Danio rerio)
Actinopterygii kmt2d 35
  • 46 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta trr 35
  • 26 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea set-16 35
  • 27 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 52 (a)
OneToOne
Species where no ortholog for KMT2D was found in the sources mined by GeneCards:
  • 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)
rs267607237 Kabuki syndrome 1 (KABUK1) 49,026,430(-) GTTCC(A/G)TGTGG intron-variant, reference, missense
rs398123729 Kabuki syndrome 1 (KABUK1) 49,026,325(-) CACGC(A/G)CATCT intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for KMT2D Gene

Variant ID Type Subtype PubMed ID
dgv814n106 CNV deletion 24896259
esv2662608 CNV deletion 23128226
nsv1069663 CNV deletion 25765185
nsv558833 CNV loss 21841781
nsv700 CNV insertion 18451855
nsv826366 CNV gain 20364138
nsv832404 CNV gain 17160897
nsv952174 CNV deletion 24416366

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

Human Gene Mutation Database (HGMD)
KMT2D
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KMT2D

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KMT2D Gene

Disorders for KMT2D Gene

MalaCards: The human disease database

(7) 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
corneal staphyloma
spinocerebellar ataxia 2
  • amyotrophic lateral sclerosis 13
tanycytic ependymoma
- 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 22 65
  2. Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome. (PMID: 24739679) Cheon C.K. … Jeong S.Y. (J. Hum. Genet. 2014) 3 4 65
  3. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. (PMID: 23320472) Makrythanasis P. … Hoischen A. (Clin. Genet. 2013) 3 4 65
  4. MLL2 and KDM6A mutations in patients with Kabuki syndrome. (PMID: 23913813) Miyake N. … Niikawa N. (Am. J. Med. Genet. A 2013) 3 4 65
  5. How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. (PMID: 22126750) Banka S. … Donnai D. (Eur. J. Hum. Genet. 2012) 3 4 65

Products for KMT2D Gene

Sources for KMT2D Gene

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