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KMT2B
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3UVM, 4ERZ, 4PZI
Identifiers
Aliases	KMT2B, HRX2, MLL1B, MLL2, MLL4, TRX2, WBP-7, WBP7, CXXC10, lysine methyltransferase 2B, DYT28
External IDs	OMIM: 606834; MGI: 109565; HomoloGene: 22838; GeneCards: KMT2B; OMA:KMT2B - orthologs
Gene location (Human) Chr. Chromosome 19 (human) Band 19q13.12 Start 35,717,973 bp End 35,738,880 bp
Gene location (Mouse) Chr. Chromosome 7 (mouse) Band 7|7 B1 Start 30,268,283 bp End 30,288,151 bp
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 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
Wikidata
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Myeloid/lymphoid or mixed-lineage leukemia 4, also known as MLL4, is a human 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.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000272333 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000006307 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ "Entrez Gene: MLL4 myeloid/lymphoid or mixed-lineage leukemia 4".

Further reading

• Bedford MT, Chan DC, Leder P (1997). "FBP WW domains and the Abl SH3 domain bind to a specific class of proline-rich ligands". EMBO J. 16 (9): 2376–83. doi:10.1093/emboj/16.9.2376. PMC 1169838. PMID 9171351.
• Nagase T, Ishikawa K, Nakajima D, et al. (1997). "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". DNA Res. 4 (2): 141–50. doi:10.1093/dnares/4.2.141. PMID 9205841.
• FitzGerald KT, Diaz MO (1999). "MLL2: A new mammalian member of the trx/MLL family of genes". Genomics. 59 (2): 187–92. doi:10.1006/geno.1999.5860. PMID 10409430.
• Huntsman DG, Chin SF, Muleris M, et al. (2000). "MLL2, the second human homolog of the Drosophila trithorax gene, maps to 19q13.1 and is amplified in solid tumor cell lines". Oncogene. 18 (56): 7975–84. doi:10.1038/sj.onc.1203291. PMID 10637508.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Grimwood J, Gordon LA, Olsen A, et al. (2004). "The DNA sequence and biology of human chromosome 19". Nature. 428 (6982): 529–35. Bibcode:2004Natur.428..529G. doi:10.1038/nature02399. PMID 15057824.
• Colland F, Jacq X, Trouplin V, et al. (2004). "Functional Proteomics Mapping of a Human Signaling Pathway". Genome Res. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMC 442148. PMID 15231748.
• Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. Bibcode:2004PNAS..10112130B. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Lim J, Hao T, Shaw C, et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569. S2CID 13709685.
• Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.

External links

• MLL4+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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