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 ... See more...

Aliases for KMT2B Gene

Aliases for KMT2B Gene

  • Lysine Methyltransferase 2B 2 3 5
  • Histone-Lysine N-Methyltransferase 2B 2 3 4
  • HRX2 2 3 4
  • MLL2 2 3 4
  • MLL4 2 3 4
  • TRX2 2 3 4
  • WBP7 2 3 4
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax Homolog, Drosophila) 4 2 3
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia Protein 4 3 4
  • Lysine (K)-Specific Methyltransferase 2B 2 3
  • KIAA0304 2 4
  • CXXC10 2 3
  • MLL1B 2 3
  • WBP-7 3 4
  • 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
  • EC 2.1.1.354 4
  • DYT28 3
  • KMT2B 5

External Ids for KMT2B Gene

Previous GeneCards Identifiers for KMT2B Gene

  • GC19P036214
  • GC19P036217
  • GC19P035801
  • GC19P035830
  • GC19P037022
  • GC19P037189
  • GC19P037286
  • GC19P037722
  • GC19P035847
  • GC19P036006
  • GC19P036169
  • GC19P036242
  • GC19P036411
  • GC19P036572
  • GC19P036740
  • GC19P036886

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 Dystonia 28, Childhood-Onset and Myoclonus. Among its related pathways are Lysine degradation and PKMTs methylate histone lysines. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and histone methyltransferase activity (H3-K4 specific). An important paralog of this gene is KMT2A.

UniProtKB/Swiss-Prot Summary for KMT2B Gene

  • Histone methyltransferase that methylates 'Lys-4' of histone H3 (PubMed:17707229). H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation (PubMed:17707229). Plays a central role in beta-globin locus transcription regulation by being recruited by NFE2 (PubMed:17707229). Plays an important role in controlling bulk H3K4me during oocyte growth and preimplantation development (By similarity). 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 (By similarity).

Gene Wiki entry for KMT2B Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KMT2B Gene

Genomics for KMT2B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KMT2B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KMT2B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KMT2B

Genomic Locations for KMT2B Gene

Genomic Locations for KMT2B Gene
chr19:35,717,818-35,738,878
(GRCh38/hg38)
Size:
21,061 bases
Orientation:
Plus strand
chr19:36,208,921-36,229,779
(GRCh37/hg19)
Size:
20,859 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 StructureGene Density

RefSeq DNA sequence 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. Interacts (via WIN motif) with WDR5 (PubMed:22665483, PubMed:22266653, PubMed:18840606). Interacts (via MBM motif) with MEN1 (PubMed:22327296).

    Three dimensional structures from OCA and Proteopedia for KMT2B Gene

    Alternative splice isoforms for KMT2B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KMT2B Gene

Post-translational modifications for KMT2B Gene

  • Ubiquitination at Lys2196
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KMT2B Gene

Domains & Families for KMT2B Gene

Gene Families for KMT2B Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for KMT2B Gene

InterPro:
Blocks:
  • Zn-finger-like, PHD finger
  • Nuclear protein SET
  • SET-related region
  • Zn-finger, CXXC type
  • FY-rich domain, N-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for KMT2B Gene

GenScript: Design optimal peptide antigens:
  • WW domain-binding protein 7 (MLL4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UMN6

UniProtKB/Swiss-Prot:

KMT2B_HUMAN :
  • The CXXC zinc finger mediates binding to DNA containing unmethylated cytidine-phosphate-guanosine (CpG) dinucleotides.
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily.
Domain:
  • The CXXC zinc finger mediates binding to DNA containing unmethylated cytidine-phosphate-guanosine (CpG) dinucleotides.
Family:
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily.
genes like me logo Genes that share domains with KMT2B: view

Function for KMT2B Gene

Molecular function for KMT2B Gene

UniProtKB/Swiss-Prot Function:
Histone methyltransferase that methylates 'Lys-4' of histone H3 (PubMed:17707229). H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation (PubMed:17707229). Plays a central role in beta-globin locus transcription regulation by being recruited by NFE2 (PubMed:17707229). Plays an important role in controlling bulk H3K4me during oocyte growth and preimplantation development (By similarity). 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 (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-lysyl(4)-[histone H3] + 3 S-adenosyl-L-methionine = 3 H(+) + N(6),N(6),N(6)-trimethyl-L-lysyl(4)-[histone H3] + 3 S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:60260, Rhea:RHEA-COMP:15537, Rhea:RHEA-COMP:15547, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:61961; EC=2.1.1.354; Evidence={ECO:0000269|PubMed:17707229};.

Enzyme Numbers (IUBMB) for KMT2B Gene

Phenotypes From GWAS Catalog 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 DNA-binding transcription factor activity NAS 10409430
GO:0005515 protein binding IPI 17021013
GO:0008168 methyltransferase activity IEA --
GO:0008270 zinc ion binding IDA 29276034
genes like me logo Genes that share ontologies with KMT2B: view
genes like me logo Genes that share phenotypes with KMT2B: view

Human Phenotype Ontology for KMT2B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KMT2B Gene

MGI Knock Outs for KMT2B:

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KMT2B

No data available for Transcription Factor Targets and HOMER Transcription for KMT2B Gene

Localization for KMT2B Gene

Subcellular locations from UniProtKB/Swiss-Prot for KMT2B Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KMT2B gene
Compartment Confidence
nucleus 5
extracellular 2
cytoskeleton 2
cytosol 2
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KMT2B Gene

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

Pathways & Interactions for KMT2B Gene

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

Pathways by source for KMT2B Gene

1 BioSystems pathway for KMT2B Gene
2 KEGG pathways for KMT2B Gene
1 Cell Signaling Technology pathway for KMT2B Gene
1 GeneTex 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 IEA --
GO:0006355 regulation of 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

(2) Drugs for KMT2B Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
D-Lysine Approved, Experimental Nutra Agonist, Full agonist 0
s-adenosylhomocysteine Experimental Pharma 0

(1) Additional Compounds for KMT2B Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
s-adenosylmethionine
  • (3S)-5'-[(3-amino-3-Carboxypropyl)methylsulfonio]-5'-deoxyadenosine, inner salt
  • [1-(Adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium
  • Acylcarnitine
  • AdoMet
  • S-(5'-Deoxyadenosin-5'-yl)-L-methionine
485-80-3
genes like me logo Genes that share compounds with KMT2B: view

Transcripts for KMT2B Gene

mRNA/cDNA for KMT2B Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KMT2B

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

No ASD Table

Relevant External Links for KMT2B Gene

GeneLoc Exon Structure for
KMT2B

Expression for KMT2B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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



Protein tissue co-expression partners for KMT2B Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KMT2B

mRNA Expression by UniProt/SwissProt for KMT2B Gene:

Q9UMN6-KMT2B_HUMAN
Tissue specificity: Widely expressed. Highest levels in testis. Also found in brain with higher expression in the cerebellum than in any other region, bone marrow, heart, muscle, kidney, placenta, spleen, thymus, prostate, ovary, intestine, colon, peripheral blood lymphocytes and pancreas. Often amplified in pancreatic carcinomas.

Evidence on tissue expression from TISSUES for KMT2B Gene

  • Nervous system(4.7)
  • Blood(4.4)
  • Skin(4.4)
  • Liver(4.4)
  • Bone marrow(4.4)
  • Intestine(2.3)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with KMT2B: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
Chimpanzee
(Pan troglodytes)
Mammalia -- 31
  • 100 (a)
OneToOne
LOC455959 30
  • 99.66 (n)
Dog
(Canis familiaris)
Mammalia -- 31
  • 92 (a)
OneToOne
MLL4 30
  • 89.85 (n)
Cow
(Bos Taurus)
Mammalia -- 31
  • 92 (a)
OneToOne
KMT2B 30
  • 89.97 (n)
Rat
(Rattus norvegicus)
Mammalia LOC102550344 30
  • 86.03 (n)
Mouse
(Mus musculus)
Mammalia Kmt2b 30 17 31
  • 85.92 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 80 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 59 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 56 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.7192 30
Zebrafish
(Danio rerio)
Actinopterygii kmt2ba 31
  • 31 (a)
OneToMany
kmt2bb 31
  • 27 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta trx 31
  • 16 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SET1 31
  • 19 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 32 (a)
OneToMany
Species where no ortholog for KMT2B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for KMT2B: view image

Paralogs for KMT2B Gene

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

Variants for KMT2B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KMT2B Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
666270 Uncertain Significance: TAFRO syndrome 35,720,453(+) AAG/A FRAMESHIFT_VARIANT
673318 Benign: not provided 35,733,260(+) C/A SYNONYMOUS_VARIANT
691443 Uncertain Significance: Pyloric stenosis; Esophageal atresia 35,727,486(+) C/T MISSENSE_VARIANT
692033 Likely Pathogenic: Dystonia 28, childhood-onset 35,730,009(+) T/C MISSENSE_VARIANT
707830 Benign: not provided 35,723,107(+) G/C SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for KMT2B Gene

Structural Variations from Database of Genomic Variants (DGV) for KMT2B Gene

Variant ID Type Subtype PubMed ID
nsv515536 CNV loss 19592680
nsv579422 CNV loss 21841781
nsv579423 CNV loss 21841781
nsv828544 CNV gain 20364138

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)

Additional Variant Information for KMT2B Gene

Human Gene Mutation Database (HGMD)
KMT2B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KMT2B

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KMT2B Gene

Disorders for KMT2B Gene

MalaCards: The human disease database

(20) MalaCards diseases for KMT2B Gene - From: OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
dystonia 28, childhood-onset
  • dyt28
myoclonus
specific learning disability
  • specific learning difficulty
dystonia 12
  • dyt12
dystonia
  • dystonic disease
- elite association - COSMIC cancer census association via MalaCards
Search KMT2B in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KMT2B_HUMAN
  • Dystonia 28, childhood-onset (DYT28) [MIM:617284]: A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT28 is an autosomal dominant, progressive form characterized by onset in the first decade of life and variable severity. Dystonia begins focally in the lower limbs, resulting in gait difficulties, with later progression to other body regions, including the upper limbs, neck, and orofacial region. {ECO:0000269 PubMed:27839873, ECO:0000269 PubMed:27992417}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with KMT2B: view

No data available for 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 DG … Caldas C (Oncogene 1999) 2 3 4 23
  2. MLL2: A new mammalian member of the trx/MLL family of genes. (PMID: 10409430) FitzGerald KT … Diaz MO (Genomics 1999) 2 3 4
  3. DNA Sequence Recognition of Human CXXC Domains and Their Structural Determinants. (PMID: 29276034) Xu C … Min J (Structure (London, England : 1993) 2018) 3 4
  4. Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. (PMID: 27992417) Meyer E … Kurian MA (Nature genetics 2017) 3 4
  5. Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia. (PMID: 27839873) Zech M … Winkelmann J (American journal of human genetics 2016) 3 4

Products for KMT2B Gene

Sources for KMT2B Gene