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Aliases for KMT2B Gene

Aliases for KMT2B Gene

  • Lysine (K)-Specific Methyltransferase 2B 2 3
  • MLL4 3 4 6
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia Protein 4 3 4
  • KIAA0304 4 6
  • WBP-7 3 4
  • MLL2 3 4
  • HRX2 3 4
  • TRX2 3 4
  • WBP7 3 4
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax Homolog, Drosophila) 4 3
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax Homolog 2
  • Histone-Lysine N-Methyltransferase MLL4 3
  • Histone-Lysine N-Methyltransferase 2B 3
  • Mixed Lineage Leukemia Gene Homolog 2 3
  • Lysine N-Methyltransferase 2B 4
  • WW Domain Binding Protein 7 3
  • WW Domain-Binding Protein 7 4
  • Trithorax Homologue 2 3
  • Trithorax Homolog 2 4
  • Drosophila) 4 2
  • EC 2.1.1.43 4
  • CXXC10 3
  • MLL1B 3

External Ids for KMT2B Gene

Summaries for KMT2B Gene

Entrez Gene Summary for KMT2B Gene

  • This gene encodes a protein which contains multiple domains including a CXXC zinc finger, three PHD zinc fingers, two FY-rich domains, and a SET (suppressor of variegation, enhancer of zeste, and trithorax) domain. The SET domain is a conserved C-terminal domain that characterizes proteins of the MLL (mixed-lineage leukemia) family. This gene is ubiquitously expressed in adult tissues. It is also amplified in solid tumor cell lines, and may be involved in human cancer. Two alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene, however, the full length nature of the shorter transcript is not known. [provided by RefSeq, Jul 2008]

GeneCards Summary for KMT2B Gene

KMT2B (Lysine (K)-Specific Methyltransferase 2B) is a Protein Coding gene. Diseases associated with KMT2B include leukemia. Among its related pathways are Lysine degradation. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and histone methyltransferase activity (H3-K4 specific). An important paralog of this gene is KMT2C.

UniProtKB/Swiss-Prot for KMT2B Gene

  • Histone methyltransferase. Methylates Lys-4 of histone H3. H3 Lys-4 methylation represents a specific tag for epigenetic transcriptional activation. Plays a central role in beta-globin locus transcription regulation by being recruited by NFE2. Plays an important role in controlling bulk H3K4me during oocyte growth and preimplantation development. Required during the transcriptionally active period of oocyte growth for the establishment and/or maintenance of bulk H3K4 trimethylation (H3K4me3), global transcriptional silencing that preceeds resumption of meiosis, oocyte survival and normal zygotic genome activation.

Gene Wiki entry for KMT2B Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KMT2B Gene

Genomics for KMT2B Gene

Genomic Location for KMT2B Gene

Start:
35,718,019 bp from pter
End:
35,738,878 bp from pter
Size:
20,860 bases
Orientation:
Plus strand

Genomic View for KMT2B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KMT2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KMT2B Gene

No data available for Regulatory Elements for KMT2B Gene

Proteins for KMT2B Gene

  • Protein details for KMT2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UMN6-KMT2B_HUMAN
    Recommended name:
    Histone-lysine N-methyltransferase 2B
    Protein Accession:
    Q9UMN6
    Secondary Accessions:
    • O15022
    • O95836
    • Q96GP2
    • Q96IP3
    • Q9UK25
    • Q9Y668
    • Q9Y669

    Protein attributes for KMT2B Gene

    Size:
    2715 amino acids
    Molecular mass:
    293515 Da
    Quaternary structure:
    • Component of the menin-associated histone methyltransferase complex, at least composed of KMT2B/MLL4, ASH2L, RBBP5, WDR5, DPY30, MEN1; the complex interacts with POLR2A and POLR2B via MEN1. Interacts with NFE2. Interacts with KDM6B.

    Three dimensional structures from OCA and Proteopedia for KMT2B Gene

    Alternative splice isoforms for KMT2B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KMT2B Gene

Proteomics data for KMT2B Gene at MOPED

Post-translational modifications for KMT2B Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys2196

Other Protein References for KMT2B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KMT2B Gene

Domains for KMT2B Gene

Gene Families for KMT2B Gene

HGNC:
  • KMT :Chromatin-modifying enzymes / K-methyltransferases

UniProtKB/Swiss-Prot:

KMT2B_HUMAN
Domain:
  • Contains 3 A.T hook DNA-binding domains.:
    • Q9UMN6
  • Contains 1 FYR C-terminal domain.:
    • Q9UMN6
  • Contains 1 FYR N-terminal domain.:
    • Q9UMN6
  • Contains 1 post-SET domain.:
    • Q9UMN6
  • Contains 1 SET domain.:
    • Q9UMN6
Family:
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily.:
    • Q9UMN6
Similarity:
  • Contains 1 CXXC-type zinc finger.:
    • Q9UMN6
  • Contains 3 PHD-type zinc fingers.:
    • Q9UMN6
genes like me logo Genes that share domains with KMT2B: view

Function for KMT2B Gene

Molecular function for KMT2B 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. H3 Lys-4 methylation represents a specific tag for epigenetic transcriptional activation. Plays a central role in beta-globin locus transcription regulation by being recruited by NFE2. Plays an important role in controlling bulk H3K4me during oocyte growth and preimplantation development. Required during the transcriptionally active period of oocyte growth for the establishment and/or maintenance of bulk H3K4 trimethylation (H3K4me3), global transcriptional silencing that preceeds resumption of meiosis, oocyte survival and normal zygotic genome activation.

Enzyme Numbers (IUBMB) for KMT2B Gene

Gene Ontology (GO) - Molecular Function for KMT2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003700 sequence-specific DNA binding transcription factor activity NAS 10409430
GO:0005515 protein binding IPI 17474147
GO:0008270 zinc ion binding IEA --
GO:0042800 histone methyltransferase activity (H3-K4 specific) IDA 17500065
genes like me logo Genes that share ontologies with KMT2B: view
genes like me logo Genes that share phenotypes with KMT2B: view

Animal Models for KMT2B Gene

MGI Knock Outs for KMT2B:

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for KMT2B Gene

Localization for KMT2B Gene

Subcellular locations from UniProtKB/Swiss-Prot for KMT2B Gene

Gene Ontology (GO) - Cellular Components for KMT2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 17500065
GO:0005654 nucleoplasm TAS --
GO:0035097 histone methyltransferase complex IDA 17500065
genes like me logo Genes that share ontologies with KMT2B: view

Pathways for KMT2B Gene

SuperPathways for KMT2B Gene

Superpath Contained pathways
1 Lysine degradation
genes like me logo Genes that share pathways with KMT2B: view

Pathways by source for KMT2B Gene

1 KEGG pathway for KMT2B Gene

Gene Ontology (GO) - Biological Process for KMT2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001541 ovarian follicle development IEA --
GO:0006325 chromatin organization TAS --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated --
GO:0009994 oocyte differentiation IEA --
genes like me logo Genes that share ontologies with KMT2B: view

Transcripts for KMT2B Gene

Alternative Splicing Database (ASD) splice patterns (SP) for KMT2B Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a ·
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

ExUns: 22b ^ 23 ^ 24 ^ 25a · 25b ^ 26 ^ 27a · 27b ^ 28a · 28b ^ 29 ^ 30 ^ 31a · 31b
SP1: - -
SP2:
SP3:
SP4: -
SP5:
SP6:
SP7: -
SP8:
SP9:
SP10:

Relevant External Links for KMT2B Gene

GeneLoc Exon Structure for
KMT2B
ECgene alternative splicing isoforms for
KMT2B

Expression for KMT2B Gene

mRNA expression in normal human tissues for KMT2B Gene

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for KMT2B Gene

mRNA Expression by UniProt/SwissProt for KMT2B Gene

Q9UMN6-KMT2B_HUMAN
Tissue specificity: Widely expressed. Highest levels in testis. Also found in brain, bone marrow, heart, muscle, kidney, placenta, spleen, thymus, prostate, ovary, intestine, colon, peripheral blood lymphocytes and pancreas. Often amplified in pancreatic carcinomas
genes like me logo Genes that share expressions with KMT2B: view

Orthologs for KMT2B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for KMT2B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 37
  • 100 (a)
OneToOne
LOC455959 36
  • 99.66 (n)
  • 99.52 (a)
cow
(Bos Taurus)
Mammalia -- 37
  • 92 (a)
OneToOne
KMT2B 36
  • 89.97 (n)
  • 92.77 (a)
dog
(Canis familiaris)
Mammalia -- 37
  • 92 (a)
OneToOne
MLL4 36
  • 89.85 (n)
  • 93.81 (a)
mouse
(Mus musculus)
Mammalia Kmt2b 36
  • 85.92 (n)
  • 89.5 (a)
Kmt2b 37
  • 90 (a)
OneToOne
Wbp7 16
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 59 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC102550344 36
  • 86.03 (n)
  • 89.31 (a)
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.7192 36
zebrafish
(Danio rerio)
Actinopterygii kmt2ba 37
  • 31 (a)
OneToMany
kmt2bb 37
  • 27 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta trx 37
  • 16 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SET1 37
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 32 (a)
OneToMany
Species with no ortholog for KMT2B:
  • A. gosspyii yeast (Ashbya 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)
  • chicken (Gallus gallus)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for KMT2B Gene

ENSEMBL:
Gene Tree for KMT2B (if available)
TreeFam:
Gene Tree for KMT2B (if available)

Paralogs for KMT2B Gene

Paralogs for KMT2B Gene

genes like me logo Genes that share paralogs with KMT2B: view

Variants for KMT2B Gene

Sequence variations from dbSNP and Humsavar for KMT2B Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs179685 -- 35,721,913(-) TCTGA(G/T)GGTTC intron-variant
rs179686 - 35,721,608(-) GTGGC(A/G)GTAGT reference, missense, utr-variant-5-prime
rs231590 -- 35,734,380(+) GGGGC(C/G)TTGTG intron-variant
rs231591 - 35,733,804(-) GACCA(C/T)CTTCC reference, missense, downstream-variant-500B
rs231592 -- 35,728,308(-) TCACC(C/T)GGGTT intron-variant, upstream-variant-2KB

Relevant External Links for KMT2B Gene

HapMap Linkage Disequilibrium report
KMT2B
Human Gene Mutation Database (HGMD)
KMT2B

No data available for Structural Variations from Database of Genomic Variants (DGV) for KMT2B Gene

Disorders for KMT2B Gene

(1) MalaCards Diseases for KMT2B Gene

Search for KMT2B Gene in MalaCards »
genes like me logo Genes that share disorders with KMT2B: view

No data available for UniProtKB/Swiss-Prot for KMT2B Gene

Publications for KMT2B Gene

  1. MLL2, the second human homolog of the Drosophila trithorax gene, maps to 19q13.1 and is amplified in solid tumor cell lines. (PMID: 10637508) Huntsman D.G. … Caldas C. (Oncogene 1999) 2 3 4 23
  2. MLL2: a new mammalian member of the trx/MLL family of genes. (PMID: 10409430) FitzGerald K.T. … Diaz M.O. (Genomics 1999) 2 3 4
  3. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J. … Lucas S.M. (Nature 2004) 3 4
  4. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9205841) Nagase T. … Ohara O. (DNA Res. 1997) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for KMT2B Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate KMT2B
    • 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
    • Predesigned siRNA for gene silencing in human,mouse,rat for KMT2B
    • Block miRNA regulation of KMT2B using miScript Target Protectors

    Sources for KMT2B Gene

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