The DOI matches its Crossref record; 66 of the 66 references it cites were found in a registry or an index.
Histone H3 lysine 4 methyltransferase KMT2D
Open accessAbstract
Histone-lysine N-methyltransferase 2D (KMT2D), also known as MLL4 and MLL2 in humans and Mll4 in mice, belongs to a family of mammalian histone H3 lysine 4 (H3K4) methyltransferases. It is a large protein over 5,500 amino acids in size and is partially functionally redundant with KMT2C. KMT2D is widely expressed in adult tissues and is essential for early embryonic development. The C-terminal SET domain is responsible for its H3K4 methyltransferase activity and is necessary for maintaining KMT2D protein stability in cells. KMT2D associates with WRAD (WDR5, RbBP5, ASH2L, and DPY30), NCOA6, PTIP, PA1, and H3K27 demethylase UTX in one protein complex. It acts as a scaffold protein within the complex and is responsible for maintaining the stability of UTX. KMT2D is a major mammalian H3K4 mono-methyltransferase and co-localizes with lineage determining transcription factors on transcriptional enhancers. It is required for the binding of histone H3K27 acetyltransferases CBP and p300 on enhancers, enhancer activation and cell-type specific gene expression during differentiation. KMT2D plays critical roles in regulating development, differentiation, metabolism, and tumor suppression. It is frequently mutated in developmental diseases, such as Kabuki syndrome and congenital heart disease, and various forms of cancer. Further understanding of the mechanism through which KMT2D regulates gene expression will reveal why KMT2D mutations are so harmful and may help generate novel therapeutic approaches.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Mutational landscape and significance across 12 major cancer types
Kandoth, C., McLellan, M. D., Vandin, F., Ye, K., Niu, B., Lu, C., Xie, M., Zhang, Q., McMichael, J. F., Wyczalkowski, M. A., et al. (2013) · Nature · doi:10.1038/nature12634 · Cited by 4,419
Heintzman, N. D., Stuart, R. K., Hon, G., Fu, Y., Ching, C. W., Hawkins, R. D., Barrera, L. O., Van Calcar, S., Qu, C., Ching, K. A., et al. (2007) · Nature Genetics · doi:10.1038/ng1966 · Cited by 3,398 · cited 1×
“Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain. anuscript A uthor M anuscript A uthor M anuscript A uthor M anuscript (Calo and Wysocka, 2013; Heintzman et al., 2007).”
BackgroundDiscovery and saturation analysis of cancer genes across 21 tumour types
Lawrence, M. S., Stojanov, P., Mermel, C. H., Robinson, J. T., Garraway, L. A., Golub, T. R., Meyerson, M., Gabriel, S. B., Lander, E. S., & Getz, G. (2014) · Nature · doi:10.1038/nature12912 · Cited by 3,096 · cited 1×
“What’s more striking is the frequent mutation of KMT2D in various types of cancer (Lawrence et al., 2014).”
BackgroundThe mutational landscape of lethal castration-resistant prostate cancer
Grasso, C. S., Wu, Y.-M., Robinson, D. R., Cao, X., Dhanasekaran, S. M., Khan, A. P., Quist, M. J., Jing, X., Lonigro, R. J., Brenner, J. C., et al. (2012) · Nature · doi:10.1038/nature11125 · Cited by 2,517
Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma
Morin, R. D., Mendez-Lago, M., Mungall, A. J., Goya, R., Mungall, K. L., Corbett, R. D., Johnson, N. A., Severson, T. M., Chiu, R., Field, M., et al. (2011) · Nature · doi:10.1038/nature10351 · Cited by 1,614
Modification of Enhancer Chromatin: What, How, and Why?
Calo, E., & Wysocka, J. (2013) · Molecular Cell · doi:10.1016/j.molcel.2013.01.038 · Cited by 1,457
Endogenous DNA damage as a source of genomic instability in cancer
Tubbs, A., & Nussenzweig, A. (2017) · Cell · doi:10.1016/j.cell.2017.01.002 · Cited by 1,452
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
Ng, S. B., Bigham, A. W., Buckingham, K. J., Hannibal, M. C., McMillin, M. J., Gildersleeve, H. I., Beck, A. E., Tabor, H. K., Cooper, G. M., Mefford, H. C., et al. (2010) · Nature Genetics · doi:10.1038/ng.646 · Cited by 1,347
Methylation of lysine 4 on histone H3: intricacy of writing and reading a single epigenetic mark
Ruthenburg, A. J., Allis, C. D., & Wysocka, J. (2007) · Molecular Cell · doi:10.1016/j.molcel.2006.12.014 · Cited by 1,147
Identification of genomic alterations in oesophageal squamous cell cancer
Song, Y., Li, L., Ou, Y., Gao, Z., Li, E., Li, X., Zhang, W., Wang, J., Xu, L., Zhou, Y., et al. (2014) · Nature · doi:10.1038/nature13176 · Cited by 1,083
Cited by
Neuronal enhancers are hotspots for DNA single-strand break repair
Wu, W., Kargbo-Hill, S. E., Nathan, W. J., Paiano, J., Callen, E., Wang, D., Shinoda, K., van Wietmarschen, N., Colón-Mercado, J. M., Zong, D., et al. (2021) · Nature · doi:10.1038/s41586-021-03468-5 · Cited by 223
Aging-Associated Alterations in Mammary Epithelia and Stroma Revealed by Single-Cell RNA Sequencing
Li, C. M.-C., Shapiro, H., Tsiobikas, C., Selfors, L. M., Chen, H., Rosenbluth, J., Moore, K., Gupta, K. P., Gray, G. K., Oren, Y., et al. (2020) · Cell Reports · doi:10.1016/j.celrep.2020.108566 · Cited by 184
The MLL3/4 H3K4 methyltransferase complex in establishing an active enhancer landscape
Wang, L.-H., Aberin, M. A. E., Wu, S., & Wang, S.-P. (2021) · Biochemical Society Transactions · doi:10.1042/bst20191164 · Cited by 53
Stroynowska-Czerwinska, A. M., Klimczak, M., Pastor, M., Kazrani, A. A., Misztal, K., & Bochtler, M. (2023) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-022-04651-1 · Cited by 14
Severe traumatic injury is associated with profound changes in DNA methylation
Eskesen, T. O., Almstrup, K., Elgaard, L., Arleth, T., Lassen, M. L., Creutzburg, A., Jensen, A. H., Breindahl, N., Dinesen, F., Vang, M., et al. (2024) · npj Genomic Medicine · doi:10.1038/s41525-024-00438-4 · Cited by 7
Metadata
- Authors
- Froimchuk, E., Jang, Y., & Ge, K.
- Venue
- Gene
- Publisher
- Elsevier BV
- Published
- 2017-09
- Volume
- 627
- Pages
- 337-342
- ISSN
- 0378-1119 (ISSN-L)
- OpenAlex
- W2728031786
- Cited by
- 299
- References
- 66
- FWCI
- 7.86
- Type
- journal article
- Language
- en
- Open access
- green
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Histone H3 lysine 4 methyltransferase KMT2D. https://app.cochat.ai/papers/10.1016/j.gene.2017.06.056
- The paper
- Froimchuk, E., Jang, Y., & Ge, K. (2017). Histone H3 lysine 4 methyltransferase KMT2D. Gene. https://doi.org/10.1016/j.gene.2017.06.056
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.