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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
External Ids for KMT2B Gene
- HGNC: 15840
- NCBI Entrez Gene: 9757
- Ensembl: ENSG00000272333
- OMIM®: 606834
- UniProtKB/Swiss-Prot: Q9UMN6
Previous GeneCards Identifiers for KMT2B Gene
- GC19P036214
- GC19P036217
- GC19P035801
- GC19P035830
- GC19P037022
- GC19P037189
- GC19P037286
- GC19P037722
- GC19P035847
- GC19P036006
- GC19P036169
- GC19P036242
- GC19P036411
- GC19P036572
- GC19P036740
- GC19P036886
- GC19P038227
- GC19P038719
Summaries 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 Kmt2b-Related Dystonia. Among its related pathways are Chromatin organization and Lysine degradation. 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).
Additional gene information 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
Latest Assembly
- chr19:35,717,818-35,738,878
- (GRCh38/hg38)
- Size:
- 21,061 bases
- Orientation:
- Plus strand
Previous Assembly
- chr19:36,208,905-36,229,779
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 20,875 bases
- Orientation:
- Plus strand
Genomic View for KMT2B Gene
Genes around KMT2B on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19q13.12 by HGNC
- 19q13.12 by Entrez Gene
- 19q13.12 by Ensembl
KMT2B Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression for KMT2B Gene
Post-translational modifications for KMT2B Gene
Other Protein References for KMT2B Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences KMT2B / MLL4 Antibody
- G Biosciences Immunotag™ WBP7 Antibody
-
Custom Antibody ServicesOriGene Antibodies for KMT2B
- Novus Biologicals Antibodies for KMT2B
-
Abcam antibodies for KMT2B
- Invitrogen Antibodies for KMT2B (AFLGC-KMT2B)
-
Santa Cruz Biotechnology (SCBT) Antibodies for KMT2B
Protein products for research
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for KMT2B
- Origene Custom Protein Services for KMT2B
Assay products for research
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
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
Q9UMN6UniProtKB/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.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003677 | DNA binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 17021013 |
| GO:0008168 | methyltransferase activity | IEA | -- |
| GO:0008270 | zinc ion binding | IEA,IDA | 29276034 |
| GO:0016740 | transferase activity | IEA | -- |
Phenotypes for KMT2B Gene
- MGI mutant phenotypes for KMT2B:
-
inferred from 7 alleles
- normal phenotype
- nervous system phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- cellular phenotype
- cardiovascular system phenotype
- mortality/aging
- liver/biliary system phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- embryo phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for KMT2B:
-
- Increased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- no effect
- Decreased viability
- Decreased vaccinia virus (VACV) infection
- Moderately decreased NFAT1-GFP nuclear translocation
- Increased gamma-H2AX phosphorylation
- Increased Nanog expression
- Increased cell number in G2M, increased nuclei size in G2M
- Decreased vesicular stomatitis virus (VSV) infection
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
-
OriGene CRISPR knockouts for KMT2B
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KMT2B
-
Santa Cruz Biotechnology (SCBT) CRISPR for KMT2B
miRNA for KMT2B Gene
- miRTarBase miRNAs that target KMT2B
-
- hsa-miR-7515 (MIRT536433)
- hsa-miR-302a-5p (MIRT536434)
- hsa-miR-3154 (MIRT536435)
- hsa-miR-6782-3p (MIRT536436)
- hsa-miR-519c-3p (MIRT536437)
- hsa-miR-519b-3p (MIRT536438)
- hsa-miR-519a-3p (MIRT536439)
- hsa-miR-5692a (MIRT536440)
- hsa-miR-548t-5p (MIRT536441)
- hsa-miR-548az-5p (MIRT536442)
- hsa-miR-526b-3p (MIRT536443)
- hsa-miR-519d-3p (MIRT536444)
- hsa-miR-93-5p (MIRT536445)
- hsa-miR-20a-5p (MIRT536446)
- hsa-miR-17-5p (MIRT536447)
- hsa-miR-106b-5p (MIRT536448)
- hsa-miR-106a-5p (MIRT536449)
- hsa-miR-20b-5p (MIRT536450)
- hsa-miR-153-3p (MIRT536451)
- hsa-miR-1224-3p (MIRT556671)
- hsa-miR-1294 (MIRT737173)
- hsa-miR-1914-3p (MIRT738506)
- hsa-miR-214-3p (MIRT738995)
- hsa-miR-31-5p (MIRT740494)
- hsa-miR-3184-5p (MIRT740860)
- hsa-miR-3619-5p (MIRT741718)
- hsa-miR-3689d (MIRT742469)
- hsa-miR-423-5p (MIRT743258)
- hsa-miR-4316 (MIRT743996)
- hsa-miR-4426 (MIRT744290)
- hsa-miR-4440 (MIRT744512)
- hsa-miR-4459 (MIRT744810)
- hsa-miR-4647 (MIRT746449)
- hsa-miR-4662b (MIRT746703)
- hsa-miR-4688 (MIRT747009)
- hsa-miR-4722-5p (MIRT747603)
- hsa-miR-5194 (MIRT749970)
- hsa-miR-6085 (MIRT751799)
- hsa-miR-6165 (MIRT752510)
- hsa-miR-6734-5p (MIRT754140)
- hsa-miR-6738-5p (MIRT754265)
- hsa-miR-6743-5p (MIRT754409)
- hsa-miR-6789-5p (MIRT756017)
- hsa-miR-6813-5p (MIRT756735)
- hsa-miR-6851-5p (MIRT757592)
- hsa-miR-761 (MIRT759469)
- hsa-miR-7704 (MIRT759730)
- hsa-miR-885-3p (MIRT760386)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KMT2B
- Browse OriGene Inhibitory RNA Products For KMT2B
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KMT2B
Clone products for research
- Addgene plasmids for KMT2B
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KMT2B
Cell Lines for research
-
Horizon Cell Lines 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
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| extracellular | 2 |
| cytoskeleton | 2 |
| cytosol | 2 |
| plasma membrane | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 1 |
- Cytosol (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA,IDA | -- |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0035097 | histone methyltransferase complex | IDA | -- |
Pathways & Interactions for KMT2B Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Chromatin organization | ||
| 2 | PKMTs methylate histone lysines | ||
| 3 | Chromatin Regulation / Acetylation | ||
| 4 | Lysine degradation | ||
| 5 | Metabolism | ||
Pathways by source for KMT2B Gene
1 BioSystems pathway for KMT2B Gene
3 Reactome pathways for KMT2B Gene
2 KEGG pathways for KMT2B Gene
1 Cell Signaling Technology pathway for KMT2B Gene
1 GeneTex pathway for KMT2B Gene
Interacting Proteins for KMT2B Gene
Selected Interacting proteins:
Q9UMN6-KMT2B_HUMAN
ENSP00000398837
for KMT2B Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for KMT2B
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006325 | chromatin organization | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0032259 | methylation | IEA | -- |
| GO:0044648 | histone H3-K4 dimethylation | IDA | 25561738 |
| GO:0045652 | regulation of megakaryocyte differentiation | TAS | -- |
No data available for SIGNOR curated interactions for KMT2B Gene
Drugs & Compounds for KMT2B Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| s-adenosylmethionine |
|
485-80-3 |
|
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 :
-
- ENST00000420124 8485 nts (view in UCSC)
- ENST00000585476 2864 nts (view in UCSC)
- ENST00000586308 705 nts (view in UCSC)
- ENST00000592092 823 nts (view in UCSC)
- ENST00000606995 195 nts (view in UCSC)
CRISPR products for research
-
OriGene CRISPR knockouts for KMT2B
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KMT2B
-
Santa Cruz Biotechnology (SCBT) CRISPR for KMT2B
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KMT2B
- Browse OriGene Inhibitory RNA Products For KMT2B
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KMT2B
Clone products for research
- Addgene plasmids for KMT2B
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KMT2B
Relevant External Links for KMT2B Gene
- GeneLoc Exon Structure for
- KMT2B
Expression for KMT2B Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Bone (Muscoskeletal System)
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
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(4.3)
- Intestine(2.1)
Primer products for research
-
OriGene qPCR primer pairs for KMT2B
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | -- 30 |
|
OneToOne | |
| LOC455959 29 |
|
||||
| Dog (Canis familiaris) |
Mammalia | -- 30 |
|
OneToOne | |
| MLL4 29 |
|
||||
| Cow (Bos Taurus) |
Mammalia | -- 30 |
|
OneToOne | |
| KMT2B 29 |
|
||||
| Rat (Rattus norvegicus) |
Mammalia | LOC102550344 29 |
|
||
| Mouse (Mus musculus) |
Mammalia | Kmt2b 29 16 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.7192 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | kmt2ba 30 |
|
OneToMany | |
| kmt2bb 30 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | trx 30 |
|
OneToMany | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SET1 30 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 30 |
|
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
- Alliance of Genome Resources:
- Additional Orthologs for KMT2B
Paralogs for KMT2B Gene
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 |
|---|---|---|---|---|---|
| 1013152 | Uncertain Significance: not provided | 35,718,239(+) |
G/A NM_014727.3(KMT2B):c.221G>A (p.Arg74His) |
MISSENSE | |
| 1013153 | Likely Benign: not provided | 35,720,106(+) |
A/G NM_014727.3(KMT2B):c.759A>G (p.Pro253=) |
SYNONYMOUS | |
| 1013154 | Likely Benign: not provided | 35,720,922(+) |
G/A NM_014727.3(KMT2B):c.1575G>A (p.Arg525=) |
SYNONYMOUS | |
| 1013155 | Likely Pathogenic: not provided | 35,729,168(+) |
C/T NM_014727.3(KMT2B):c.4789C>T (p.Arg1597Trp) |
MISSENSE | |
| 1013156 | Uncertain Significance: not provided | 35,736,834(+) |
G/C NM_014727.3(KMT2B):c.7297+7G>C |
INTRON |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
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
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KMT2B Gene
Disorders for KMT2B Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| dystonia 28, childhood-onset |
|
|
| kmt2b-related dystonia |
|
|
| dystonia 12 |
|
|
| myoclonus |
|
|
| abdominal obesity-metabolic syndrome 1 |
|
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 variants affecting the gene represented in this entry.
Additional Disease Information for KMT2B
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for KMT2B Gene
Publications for KMT2B Gene
- 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 22
- Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. (PMID: 27992417) Meyer E … Kurian MA (Nature genetics 2017) 3 4 72
- 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 72
- MLL2: A new mammalian member of the trx/MLL family of genes. (PMID: 10409430) FitzGerald KT … Diaz MO (Genomics 1999) 2 3 4
- DNA Sequence Recognition of Human CXXC Domains and Their Structural Determinants. (PMID: 29276034) Xu C … Min J (Structure (London, England : 1993) 2018) 3 4
ExternalLinks
Products for KMT2B Gene
- Custom Antibody ServicesOriGene Antibodies for KMT2B
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- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for KMT2B
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- Invitrogen Antibodies for KMT2B (AFLGC-KMT2B)
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- Santa Cruz Biotechnology (SCBT) Antibodies for KMT2B
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Sources for KMT2B Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) ASD
- (27) SAGE
- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
- (31) euGenes
- (32) SGD
- (33) FlyBase
- (34) WormBase
- (35) Pseudogene
- (36) DGV
- (37) dbSNP
- (38) GenAtlas
- (39) HGMD
- (40) GAD
- (41) BGMUT
- (42) HuGE
- (43) Atlas
- (44) GenBank
- (45) HORDE
- (46) HUGE
- (47) IMGT
- (48) Leiden
- (49) miRBase
- (50) DME
- (51) OriGene
- (52) PubMed
- (53) R&D Systems
- (54) Tocris
- (55) Abcam
- (56) Novus Biologicals
- (57) ProSpec
- (58) Sino Biological
- (59) GenScript
- (60) Qiagen
- (61) OCA
- (62) Proteopedia
- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
- (74) BitterDB
- (75) ESI-BIO
- (76) RefSeq
- (77) BioSystems
- (78) MaxQB
- (79) IUPHAR
- (80) BioGPS
- (81) Illumina
- (82) COMPARTMENTS
- (83) HOMER
- (84) PaxDb
- (85) ApexBio
- (86) Addgene
- (87) antibodies-online
- (88) CYP
- (89) NONCODE
- (90) TreeFam
- (91) PathCards
- (92) GeneReviews
- (93) GeneTex
- (94) Taconic Biosciences
- (95) GTEx
- (96) ProteomicsDB
- (97) SCBT
- (98) DGIdb
- (99) ClinicalTrials
- (100) RVIS
- (101) SIGNOR
- (102) diseasecard
- (103) NIH Rare Diseases
- (104) Orphanet
- (105) UMLS
- (106) GTR
- (107) Disease Ontology
- (108) MedlinePlus Genetics
- (109) MeSH
- (110) MedlinePlus
- (111) CDC
- (112) NINDS
- (113) NCBI Bookshelf
- (114) ClinVar
- (115) Gene Damage Index
- (116) HPO
- (117) UDN
- (118) VISTA
- (119) FANTOM5
- (120) ENCODE
- (121) ProSci
- (122) Horizon
- (123) The Signaling Pathways Project (SPP)
- (124) IID
- (125) VectorBuilder
- (126) SNPedia
- (127) BRCA Exchange
- (128) CIViC
- (129) ProteoGenix
- (130) dbSUPER
- (131) TISSUES
- (132) Gene ORGANizer
- (133) abm
- (134) Human Protein Atlas
- (135) GWAS Catalog
- (136) Monarch Initiative
- (137) DataMed
- (138) HumanCyc
- (139) UCNEbase
- (140) EPDnew
- (141) Applied Biosystems
- (142) GlyConnect
- (143) Aminode
- (144) GeneCopoeia
- (145) GPS-Prot
- (146) RNAcentral
- (147) LncRNADisease
- (148) LOVD
- (149) miR2Disease
- (150) DiseaseEnhancer
- (151) Boster Bio
- (152) Biorbyt
- (153) Biocompare
- (154) Mastermind
- (155) CTD^2 Dashboard
- (156) CraniofacialAtlas
- (157) GeneImprint
- (158) Synthego
- (159) ENA
- (160) GtRNAdb
- (161) LncBase
- (162) LncBook
- (163) LNCipedia
- (164) Modomics
- (165) PDBe
- (166) Rfam
- (167) SILVA
- (168) snOPY
- (169) SRPDB
- (170) GENCODE
- (171) TarBase
- (172) Open Targets Platform
- (173) 5SRRNADB
- (174) snoDB
- (175) MirGeneDB
- (176) Alliance of Genome Resources