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Search results 301 to 315 out of 315 for Kmt2d

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Type

Details

Score

Publication

36525973 | J:336850

First Author:	Pan Y
Year:	2023
Journal:	Cancer Cell
Title:	KMT2D deficiency drives lung squamous cell carcinoma and hypersensitivity to RTK-RAS inhibition.
Volume:	41
Issue:	1
Pages:	88-105.e8

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HT Experiment

E-GEOD-74679 | Analysis of transcriptome changes in Kmt2d deletion in cardiac mesoderm, anterior heart field precursors and cardiomyocytes

Series Id:	GSE74679
Experiment Type:	RNA-Seq
Study Type:	WT vs. Mutant
Source:	ArrayExpress

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Publication

27280393 | J:234839

First Author:	Dawkins JB
Year:	2016
Journal:	Cancer Res
Title:	Reduced Expression of Histone Methyltransferases KMT2C and KMT2D Correlates with Improved Outcome in Pancreatic Ductal Adenocarcinoma.
Volume:	76
Issue:	16
Pages:	4861-71

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Publication

32887696 | J:299189

First Author:	Wang G
Year:	2020
Journal:	Cancer Discov
Title:	CRISPR-GEMM Pooled Mutagenic Screening Identifies KMT2D as a Major Modulator of Immune Checkpoint Blockade.
Volume:	10
Issue:	12
Pages:	1912-1933

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Protein Domain

IPR041964 | KMT2D_ePHD2

Type:

Domain

Description:

The extended plant homeodomain (ePHD) zinc finger is characterized as Cys2HisCys5HisCys2His. KMT2D, also known as ALR or MLL4, is a fourth human homologue of Drosophila trithorax, located on chromosome 12 []. KMT2D enzymatically generates trimethylated histone H3 at Lys 4 (H3K4me3). It acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription []. It is also a part of activating signal cointegrator-2 (ASC-2)-containing complex (ASCOM) that contains the transcriptional coactivator nuclear receptor coactivator 6 (NCOA6), KMT2C and KMT2D. The ASCOM complex is critical for nuclear receptor (NR) activation of bile acid transporter genes and is down regulated in cholestasis []. KMT2D contains the catalytic domain SET, five PHD fingers, two ePHD fingers, a RING finger, an HMG (high-mobility group)-binding motif, and two FY-rich regions.Mutations in the KMT2D gene have been linked to Kabuki syndrome [, ].This entry represents the second ePHD finger of Histone-lysine N-methyltransferase 2D (KMT2D).

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Protein Domain

IPR041961 | KMT2D_ePHD1

Type:

Domain

Description:

This entry represents the first ePHD finger of Histone-lysine N-methyltransferase 2D (KMT2D).The extended plant homeodomain (ePHD) zinc finger is characterized as Cys2HisCys5HisCys2His. KMT2D, also known as ALR or MLL4, is a fourth human homologue of Drosophila trithorax, located on chromosome 12 []. KMT2D enzymatically generates trimethylated histone H3 at Lys 4 (H3K4me3). It acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription []. It is also a part of activating signal cointegrator-2 (ASC-2)-containing complex (ASCOM) that contains the transcriptional coactivator nuclear receptor coactivator 6 (NCOA6), KMT2C and KMT2D. The ASCOM complex is critical for nuclear receptor (NR) activation of bile acid transporter genes and is down regulated in cholestasis []. KMT2D contains the catalytic domain SET, five PHD fingers, two ePHD fingers, a RING finger, an HMG (high-mobility group)-binding motif, and two FY-rich regions.Mutations in the KMT2D gene have been linked to Kabuki syndrome [, ].

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Publication

30514738 | -

First Author:	Adam MP
Year:	2019
Journal:	J Med Genet
Title:	Kabuki syndrome: international consensus diagnostic criteria.
Volume:	56
Issue:	2
Pages:	89-95

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Publication

21280141 | -

First Author:	Paulussen AD
Year:	2011
Journal:	Hum Mutat
Title:	MLL2 mutation spectrum in 45 patients with Kabuki syndrome.
Volume:	32
Issue:	2
Pages:	E2018-25

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Publication

30232013 | J:271715

First Author:	Bouchard C
Year:	2018
Journal:	Cell Rep
Title:	Genomic Location of PRMT6-Dependent H3R2 Methylation Is Linked to the Transcriptional Outcome of Associated Genes.
Volume:	24
Issue:	12
Pages:	3339-3352

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Publication

30753827 | J:271283

First Author:	Skvortsova K
Year:	2019
Journal:	Cancer Cell
Title:	DNA Hypermethylation Encroachment at CpG Island Borders in Cancer Is Predisposed by H3K4 Monomethylation Patterns.
Volume:	35
Issue:	2
Pages:	297-314.e8

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Publication

9247308 | J:42245

First Author:	Prasad R
Year:	1997
Journal:	Oncogene
Title:	Structure and expression pattern of human ALR, a novel gene with strong homology to ALL-1 involved in acute leukemia and to Drosophila trithorax.
Volume:	15
Issue:	5
Pages:	549-60

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Publication

33432228 | J:302194

First Author:	Rivas MA
Year:	2021
Journal:	Nat Immunol
Title:	Smc3 dosage regulates B cell transit through germinal centers and restricts their malignant transformation.
Volume:	22
Issue:	2
Pages:	240-253

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Publication

34502349 | J:340429

First Author:	Solich J
Year:	2021
Journal:	Int J Mol Sci
Title:	MicroRNA Let-7e in the Mouse Prefrontal Cortex Differentiates Restraint-Stress-Resilient Genotypes from Susceptible Genotype.
Volume:	22
Issue:	17

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Publication

29367767 | J:261028

First Author:	Fantini D
Year:	2018
Journal:	Oncogene
Title:	A Carcinogen-induced mouse model recapitulates the molecular alterations of human muscle invasive bladder cancer.
Volume:	37
Issue:	14
Pages:	1911-1925

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Publication

31128216 | J:276347

First Author:	Fagan RJ
Year:	2019
Journal:	Cancer Lett
Title:	COMPASS Ascending: Emerging clues regarding the roles of MLL3/KMT2C and MLL2/KMT2D proteins in cancer.
Volume:	458

Pages:	56-65

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