MLL4

Protein-coding gene in the species Homo sapiens
KMT2B
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

3UVM, 4ERZ, 4PZI

Identifiers
AliasesKMT2B, HRX2, MLL1B, MLL2, MLL4, TRX2, WBP-7, WBP7, CXXC10, lysine methyltransferase 2B, DYT28
External IDsOMIM: 606834; MGI: 109565; HomoloGene: 22838; GeneCards: KMT2B; OMA:KMT2B - orthologs
Gene location (Human)
Chromosome 19 (human)
Chr.Chromosome 19 (human)[1]
Chromosome 19 (human)
Genomic location for KMT2B
Genomic location for KMT2B
Band19q13.12Start35,717,973 bp[1]
End35,738,880 bp[1]
Gene location (Mouse)
Chromosome 7 (mouse)
Chr.Chromosome 7 (mouse)[2]
Chromosome 7 (mouse)
Genomic location for KMT2B
Genomic location for KMT2B
Band7|7 B1Start30,268,283 bp[2]
End30,288,151 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 7: 30.27 – 30.29 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Myeloid/lymphoid or mixed-lineage leukemia 4, also known as MLL4, is a human gene.[5]

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]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000272333 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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.

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

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(1) Basic domains
(1.1) Basic leucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3) bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger DNA-binding domains
(2.1) Nuclear receptor (Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3) Helix-turn-helix domains
(3.1) Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3) Fork head / winged helix
(3.4) Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4) β-Scaffold factors with minor groove contacts
(4.1) Rel homology region
(4.2) STAT
(4.3) p53-like
(4.4) MADS box
(4.6) TATA-binding proteins
(4.7) High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3) Pocket domain
(0.5) AP-2/EREBP-related factors
(0.6) Miscellaneous
see also transcription factor/coregulator deficiencies


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