Free for academic non-profit institutions. Other users need a Commercial license

Aliases for KMT2D Gene

Aliases for KMT2D Gene

  • Lysine (K)-Specific Methyltransferase 2D 2 3
  • 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 (K)-Specific Methyltransferase 2D) is a Protein Coding gene. Diseases associated with KMT2D include kmt2d-related kabuki syndrome and kabuki syndrome 1. Among its related pathways are Signaling by GPCR and Chromatin organization. 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

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:
    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:0003677 DNA binding NAS 9247308
GO:0005515 protein binding IPI 12482968
GO:0008168 methyltransferase activity --
GO:0008270 zinc ion binding IEA --
GO:0042800 histone methyltransferase activity (H3-K4 specific) TAS --
genes like me logo Genes that share ontologies with KMT2D: view

Phenotypes for KMT2D Gene

GenomeRNAi human phenotypes for KMT2D:
genes like me logo Genes that share phenotypes with KMT2D: view

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

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 & Interactions for KMT2D Gene

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

Pathways by source 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:0001555 oocyte growth ISS --
GO:0001701 in utero embryonic development IEA --
GO:0006325 chromatin organization TAS --
GO:0006342 chromatin silencing ISS --
GO:0006351 transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with KMT2D: view

Drugs & Compounds for KMT2D Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Entacapone Approved, Investigational Pharma COMT inhibitor, Potent COMT inhibitor; blocks alpha-synuclein aggregation 46
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

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

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

  • 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

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
mouse
(Mus musculus)
Mammalia Kmt2d 35
  • 86.93 (n)
  • 89.28 (a)
Mll2 16
Kmt2d 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LOC100610362 35
  • 99.4 (n)
  • 99.41 (a)
KMT2D 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kmt2d 35
  • 86.58 (n)
  • 88.73 (a)
cow
(Bos Taurus)
Mammalia KMT2D 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KMT2D 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KMT2D 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KMT2D 36
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 36
  • 55 (a)
OneToMany
-- 36
  • 41 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia KMT2D 36
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kmt2d 35
  • 61.5 (n)
  • 62.2 (a)
Str.20172 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.16861 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 MAF
rs2024 -- 49,026,408(-) TTCCA(C/T)GCCAT reference, synonymous-codon, intron-variant
rs764941 Uncertain significance, Uncertain significance 49,048,707(+) ATGCA(C/G)AATAC missense, reference, nc-transcript-variant
rs764942 Uncertain significance, Uncertain significance 49,048,659(+) ATGCA(C/G)GTACC missense, reference, nc-transcript-variant
rs833817 -- 49,027,396(-) GGTGG(C/G)ATATG intron-variant
rs833818 -- 49,045,876(-) ACGTC(A/G)GACAT intron-variant

Variation tolerance for KMT2D Gene

Residual Variation Intolerance Score: .08% 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

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

Disorder Aliases PubMed IDs
kmt2d-related kabuki syndrome
  • mll2-related kabuki syndrome
kabuki syndrome 1
  • kabuki syndrome
corneal staphyloma
body dysmorphic disorder
  • dysmorphophobia
spinocerebellar ataxia 2
  • amyotrophic lateral sclerosis 13
- elite association
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}. 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 23 67
  2. Phosphorylation of the menin tumor suppressor protein on serine 543 and serine 583. (PMID: 17050672) MacConaill L.E. … Meyerson M. (Mol. Cancer Res. 2006) 23 67
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  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) 67
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 67

Products for KMT2D Gene

Sources for KMT2D Gene

Back to Top

Content