KMT2B

Histone-lysine N-methyltransferase 2B is a protein that in humans is encoded by the KMT2B gene.^[5]

AliasesKMT2B, HRX2, MLL1B, MLL2, MLL4, TRX2, WBP-7, WBP7, CXXC10, lysine methyltransferase 2B, DYT28

External IDsOMIM: 606834; MGI: 109565; GeneCards: KMT2B

PDBOrtholog search: PDBe RCSB

Chr.Chromosome 19 (human)^[1]

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KMT2B
Identifiers
Aliases	KMT2B, HRX2, MLL1B, MLL2, MLL4, TRX2, WBP-7, WBP7, CXXC10, lysine methyltransferase 2B, DYT28
External IDs	OMIM: 606834; MGI: 109565; GeneCards: KMT2B
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3UVM, 4ERZ, 4PZI
Enzyme activity EC # BRENDA ExPASy KEGG MetaCyc 2.1.1.364 ↗ ↗ ↗ ↗
Gene location (Human) Chr. Chromosome 19 (human)[1] Band 19q13.12 Start 35,717,973 bp[1] End 35,738,880 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7|7 B1 Start 30,268,283 bp[2] End 30,288,151 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right testis left testis right hemisphere of cerebellum anterior pituitary granulocyte skin of leg right lobe of thyroid gland skin of abdomen left lobe of thyroid gland gastric mucosa Top expressed in secondary oocyte genital tubercle tail of embryo zygote hand neural layer of retina otic vesicle mesenteric lymph nodes granulocyte ventricular zone More reference expression data BioGPS More reference expression data
Gene ontology Molecular function methyltransferase activity transferase activity DNA binding DNA-binding transcription factor activity zinc ion binding metal ion binding protein binding histone-lysine N-methyltransferase activity histone methyltransferase activity (H3-K4 specific) DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleoplasm nucleus histone methyltransferase complex Biological process regulation of transcription, DNA-templated histone H3-K4 trimethylation regulation of histone H3-K4 methylation memory transcription, DNA-templated methylation ovarian follicle development histone lysine methylation ovulation oocyte differentiation histone H3-K4 methylation regulation of megakaryocyte differentiation chromatin organization regulation of transcription by RNA polymerase II positive regulation of transcription, DNA-templated Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 9757 75410 Ensembl ENSG00000272333 ENSMUSG00000006307 UniProt Q9UMN6 O08550 RefSeq (mRNA) NM_014727 NM_001290573 NM_029274 RefSeq (protein) NP_055542 NP_001277502 NP_083550 Location (UCSC) Chr 19: 35.72 – 35.74 Mb Chr 7: 30.27 – 30.29 Mb PubMed search [3] [4]
Wikidata
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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 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.^[5]