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

KMT2B Gene(Protein Coding)

Lysine Methyltransferase 2B

GCID:
GC19P035847
GIFtS:
45
Genes Participants
UDN Logo

Aliases for KMT2B Gene

Aliases for KMT2B Gene

  • Lysine Methyltransferase 2B 2 3
  • Lysine (K)-Specific Methyltransferase 2B 2 3 5
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia Protein 4 3 4
  • WBP-7 3 4
  • HRX2 3 4
  • MLL2 3 4
  • MLL4 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
  • 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
  • KIAA0304 4
  • CXXC10 3
  • MLL1B 3

External Ids for KMT2B Gene

Previous GeneCards Identifiers for KMT2B Gene

  • GC19P036214
  • GC19P036217
  • GC19P035801
  • GC19P035830

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 Methyltransferase 2B) is a Protein Coding gene. Diseases associated with KMT2B include Myeloid/Lymphoid Or Mixed Lineage Leukemia and Spindle Cell Sarcoma. Among its related pathways are Chromatin organization and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding 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

Products:

  1. Regulatory Element

Regulatory Elements for KMT2B Gene

Enhancers for KMT2B Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KMT2B on UCSC Golden Path with GeneCards custom track

Promoters for KMT2B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KMT2B on UCSC Golden Path with GeneCards custom track

Genomic Location for KMT2B Gene

Chromosome:
19
Start:
35,717,995 bp from pter
End:
35,738,880 bp from pter
Size:
20,886 bases
Orientation:
Plus strand

Genomic View for KMT2B Gene

Genes around KMT2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KMT2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KMT2B Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for KMT2B Gene

Proteins for KMT2B Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for KMT2B Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for KMT2B Gene

  • Ubiquitination at Lys 2196
  • Modification sites at PhosphoSitePlus

Other Protein References for KMT2B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KMT2B Gene

Domains & Families for KMT2B Gene

Gene Families for KMT2B Gene

HGNC:

Protein Domains for KMT2B Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for KMT2B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UMN6

UniProtKB/Swiss-Prot:

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

Function for KMT2B Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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:0005515 protein binding IEA,IPI 17474147
genes like me logo Genes that share ontologies with KMT2B: view

Phenotypes for KMT2B Gene

MGI mutant phenotypes for KMT2B:
inferred from 7 alleles
GenomeRNAi human phenotypes for KMT2B:
genes like me logo Genes that share phenotypes with KMT2B: view

Animal Models for KMT2B Gene

MGI Knock Outs for KMT2B:

Animal Model Products

CRISPR Products

miRNA for KMT2B Gene

miRTarBase miRNAs that target KMT2B

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KMT2B Gene

Localization for KMT2B Gene

Subcellular locations from UniProtKB/Swiss-Prot for KMT2B Gene

Nucleus.

No data available for Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for KMT2B Gene

Pathways & Interactions for KMT2B Gene

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

Pathways by source for KMT2B Gene

1 GeneTex pathway 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:0007613 memory IEA --
GO:0009994 oocyte differentiation IEA --
genes like me logo Genes that share ontologies with KMT2B: view

No data available for SIGNOR curated interactions for KMT2B Gene

Drugs & Compounds for KMT2B Gene

Products:

  1. Drug

(3) Drugs for KMT2B Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Lysine Approved Nutra Full agonist, Agonist 0
S-Adenosylmethionine Approved Nutra 0
s-adenosylhomocysteine Experimental Pharma 0
genes like me logo Genes that share compounds with KMT2B: view

Transcripts for KMT2B Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for KMT2B Gene

(4) REFSEQ mRNAs :
(436) Selected AceView cDNA sequences:
(5) 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 KMT2B Gene

No ASD Table

Relevant External Links for KMT2B Gene

GeneLoc Exon Structure for
KMT2B
ECgene alternative splicing isoforms for
KMT2B

Expression for KMT2B Gene

Products:

  1. Primer

mRNA expression in normal human tissues for KMT2B Gene

mRNA expression in normal human tissues for KMT2B Gene
mRNA expression by BioGPS for KMT2B GenemRNA expression by GTEx for KMT2B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KMT2B Gene

This gene is overexpressed in Pancreatic juice (17.3), Peripheral blood mononuclear cells (12.3), Monocytes (8.8), and Testis (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with KMT2B: view

Protein tissue co-expression partners for KMT2B Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues for KMT2B Gene

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
cow
(Bos Taurus)
 Mammalia KMT2B 35
  • 89.97 (n)
  • 92.77 (a)
-- 36
  • 92 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia MLL4 35
  • 89.85 (n)
  • 93.81 (a)
-- 36
  • 92 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Kmt2b 35
  • 85.92 (n)
  • 89.5 (a)
Kmt2b 16
Kmt2b 36
  • 90 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia LOC455959 35
  • 99.66 (n)
  • 99.52 (a)
-- 36
  • 100 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia LOC102550344 35
  • 86.03 (n)
  • 89.31 (a)
oppossum
(Monodelphis domestica)
 Mammalia -- 36
  • 80 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 36
  • 59 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia -- 36
  • 56 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia Str.7192 35
zebrafish
(Danio rerio)
 Actinopterygii kmt2ba 36
  • 31 (a)
 OneToMany
kmt2bb 36
  • 27 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta trx 36
  • 16 (a)
 OneToMany
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes SET1 36
  • 19 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 36
  • 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
rs2242519 - 35,721,107(+) TGCCC(C/G)AACTC nc-transcript-variant, reference, missense
rs179686 - 35,721,608(-) GTGGC(A/G)GTAGT nc-transcript-variant, reference, missense
rs34014681 - 35,723,964(-) CCCCC(A/G)GGCTC intron-variant, nc-transcript-variant, reference, synonymous-codon
rs16970649 - 35,731,956(+) TGTCC(C/T)TGGAG reference, missense
rs231591 - 35,733,804(-) GACCA(C/T)CTTCC reference, missense

Variation tolerance for KMT2B Gene

Residual Variation Intolerance Score: 1.39% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.48; 82.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KMT2B Gene

Human Gene Mutation Database (HGMD)
KMT2B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for KMT2B Gene

Disorders for KMT2B Gene

MalaCards: The human disease database

(2) MalaCards diseases for KMT2B Gene - From: GeneCards

Disorder Aliases PubMed IDs
myeloid/lymphoid or mixed lineage leukemia
  • mll
spindle cell sarcoma
  • sarcoma
- elite association - COSMIC cancer census association via MalaCards
Search KMT2B in MalaCards View complete list of genes associated with diseases

Relevant External Links for KMT2B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KMT2B
genes like me logo Genes that share disorders with KMT2B: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 67
  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
  3. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3
  4. Identification of HBV-MLL4 Integration and Its Molecular Basis in Chinese Hepatocellular Carcinoma. (PMID: 25901726) Dong H. … Ji Q. (PLoS ONE 2015) 3
  5. MLL3 and MLL4 Methyltransferases Bind to the MAFA and MAFB Transcription Factors to Regulate Islet I^-Cell Function. (PMID: 26180087) Scoville D.W. … Stein R. (Diabetes 2015) 3

Products for KMT2B Gene

Sources for KMT2B Gene

Content