Type |
Details |
Score |
Publication |
First Author: |
Ashokkumar D |
Year: |
2020 |
Journal: |
Development |
Title: |
MLL4 is required after implantation, whereas MLL3 becomes essential during late gestation. |
Volume: |
147 |
Issue: |
12 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Zhang F |
Year: |
2021 |
Journal: |
Front Cell Dev Biol |
Title: |
Identification of Jmjd3 as an Essential Epigenetic Regulator of Hox Gene Temporal Collinear Activation for Body Axial Patterning in Mice. |
Volume: |
9 |
|
Pages: |
642931 |
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•
•
•
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Publication |
First Author: |
Allis CD |
Year: |
2007 |
Journal: |
Cell |
Title: |
New nomenclature for chromatin-modifying enzymes. |
Volume: |
131 |
Issue: |
4 |
Pages: |
633-6 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yoshikawa T |
Year: |
2006 |
Journal: |
Gene Expr Patterns |
Title: |
High-throughput screen for genes predominantly expressed in the ICM of mouse blastocysts by whole mount in situ hybridization. |
Volume: |
6 |
Issue: |
2 |
Pages: |
213-24 |
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•
•
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•
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Publication |
First Author: |
Taher L |
Year: |
2011 |
Journal: |
PLoS One |
Title: |
Global gene expression analysis of murine limb development. |
Volume: |
6 |
Issue: |
12 |
Pages: |
e28358 |
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•
•
•
•
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|
Publication |
First Author: |
Shanghai Model Organisms Center |
Year: |
2017 |
Journal: |
MGI Direct Data Submission |
Title: |
Information obtained from the Shanghai Model Organisms Center (SMOC), Shanghai, China |
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•
•
•
•
•
|
Publication |
First Author: |
Okazaki N |
Year: |
2003 |
Journal: |
DNA Res |
Title: |
Prediction of the coding sequences of mouse homologues of KIAA gene: III. the complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. |
Volume: |
10 |
Issue: |
4 |
Pages: |
167-80 |
|
•
•
•
•
•
|
Publication |
First Author: |
Cobellis G |
Year: |
2005 |
Journal: |
Nucleic Acids Res |
Title: |
Tagging genes with cassette-exchange sites. |
Volume: |
33 |
Issue: |
4 |
Pages: |
e44 |
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•
•
•
•
•
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2001 |
|
Title: |
Gene Ontology Annotation by the MGI Curatorial Staff |
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•
•
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•
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Publication |
First Author: |
Wiese CB |
Year: |
2012 |
Journal: |
Front Neurosci |
Title: |
A genome-wide screen to identify transcription factors expressed in pelvic Ganglia of the lower urinary tract. |
Volume: |
6 |
|
Pages: |
130 |
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•
•
•
•
•
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
MGC Data curation in Mouse Genome Informatics |
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|
•
•
•
•
•
|
Publication |
First Author: |
GO Central curators, GOA curators, Rhea curators |
Year: |
2020 |
|
Title: |
Automatic Gene Ontology annotation based on Rhea mapping |
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•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2003 |
|
Title: |
Data Curation Using Mouse Genome Assembly |
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•
•
•
•
•
|
Publication |
First Author: |
Friedel RH |
Year: |
2007 |
Journal: |
Brief Funct Genomic Proteomic |
Title: |
EUCOMM--the European conditional mouse mutagenesis program. |
Volume: |
6 |
Issue: |
3 |
Pages: |
180-5 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2016 |
|
Title: |
Automatic assignment of GO terms using logical inference, based on on inter-ontology links |
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•
•
•
•
•
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Publication |
First Author: |
Gray PA |
Year: |
2004 |
Journal: |
Science |
Title: |
Mouse brain organization revealed through direct genome-scale TF expression analysis. |
Volume: |
306 |
Issue: |
5705 |
Pages: |
2255-7 |
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•
•
•
•
•
|
Publication |
First Author: |
Thompson CL |
Year: |
2014 |
Journal: |
Neuron |
Title: |
A high-resolution spatiotemporal atlas of gene expression of the developing mouse brain. |
Volume: |
83 |
Issue: |
2 |
Pages: |
309-323 |
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•
•
•
•
•
|
Publication |
First Author: |
Visel A |
Year: |
2004 |
Journal: |
Nucleic Acids Res |
Title: |
GenePaint.org: an atlas of gene expression patterns in the mouse embryo. |
Volume: |
32 |
Issue: |
Database issue |
Pages: |
D552-6 |
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•
•
•
•
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|
Publication |
First Author: |
Stryke D |
Year: |
2003 |
Journal: |
Nucleic Acids Res |
Title: |
BayGenomics: a resource of insertional mutations in mouse embryonic stem cells. |
Volume: |
31 |
Issue: |
1 |
Pages: |
278-81 |
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•
•
•
•
•
|
Publication |
First Author: |
Wellcome Trust Sanger Institute |
Year: |
2009 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the KOMP project by the Wellcome Trust Sanger Institute |
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•
•
•
•
•
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Publication |
First Author: |
Cyagen Biosciences Inc. |
Year: |
2022 |
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Title: |
Cyagen Biosciences Website. |
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•
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Publication |
First Author: |
GUDMAP Consortium |
Year: |
2004 |
Journal: |
www.gudmap.org |
Title: |
GUDMAP: the GenitoUrinary Development Molecular Anatomy Project |
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•
•
•
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Publication |
First Author: |
Hansen GM |
Year: |
2008 |
Journal: |
Genome Res |
Title: |
Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. |
Volume: |
18 |
Issue: |
10 |
Pages: |
1670-9 |
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•
•
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Publication |
First Author: |
Carninci P |
Year: |
2005 |
Journal: |
Science |
Title: |
The transcriptional landscape of the mammalian genome. |
Volume: |
309 |
Issue: |
5740 |
Pages: |
1559-63 |
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•
•
•
•
•
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Publication |
First Author: |
MGD Nomenclature Committee |
Year: |
1995 |
|
Title: |
Nomenclature Committee Use |
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•
•
•
•
•
|
Publication |
First Author: |
Zambrowicz BP |
Year: |
2003 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. |
Volume: |
100 |
Issue: |
24 |
Pages: |
14109-14 |
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•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI) |
Year: |
2008 |
Journal: |
Database Download |
Title: |
Mouse Gene Trap Data Load from dbGSS |
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|
•
•
•
•
•
|
Publication |
First Author: |
Skarnes WC |
Year: |
2011 |
Journal: |
Nature |
Title: |
A conditional knockout resource for the genome-wide study of mouse gene function. |
Volume: |
474 |
Issue: |
7351 |
Pages: |
337-42 |
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•
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Publication |
First Author: |
GemPharmatech |
Year: |
2020 |
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Title: |
GemPharmatech Website. |
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•
•
•
•
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2000 |
|
Title: |
Gene Ontology Annotation by electronic association of SwissProt Keywords with GO terms |
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•
•
•
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Publication |
First Author: |
AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators |
Year: |
2011 |
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Title: |
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity |
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•
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Publication |
First Author: |
Okazaki Y |
Year: |
2002 |
Journal: |
Nature |
Title: |
Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. |
Volume: |
420 |
Issue: |
6915 |
Pages: |
563-73 |
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•
•
•
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•
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2010 |
|
Title: |
Human to Mouse ISO GO annotation transfer |
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Publication |
First Author: |
Diez-Roux G |
Year: |
2011 |
Journal: |
PLoS Biol |
Title: |
A high-resolution anatomical atlas of the transcriptome in the mouse embryo. |
Volume: |
9 |
Issue: |
1 |
Pages: |
e1000582 |
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•
•
•
•
•
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
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•
•
•
•
•
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2). |
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Publication |
First Author: |
Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas |
Year: |
2010 |
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Title: |
Annotation inferences using phylogenetic trees |
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•
•
•
•
•
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Publication |
First Author: |
Mouse Genome Database and National Center for Biotechnology Information |
Year: |
2000 |
Journal: |
Database Release |
Title: |
Entrez Gene Load |
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•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Group |
Year: |
2003 |
Journal: |
Database Procedure |
Title: |
Automatic Encodes (AutoE) Reference |
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•
•
•
•
•
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Publication |
First Author: |
Bairoch A |
Year: |
1999 |
Journal: |
Database Release |
Title: |
SWISS-PROT Annotated protein sequence database |
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•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
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•
•
•
•
•
|
Publication |
First Author: |
Allen Institute for Brain Science |
Year: |
2004 |
Journal: |
Allen Institute |
Title: |
Allen Brain Atlas: mouse riboprobes |
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•
•
•
•
•
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Publication |
First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Consensus CDS project |
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|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
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|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
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•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform |
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•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform |
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•
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•
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Publication |
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 |
|
•
•
•
•
•
|
Allele |
Name: |
lysine (K)-specific methyltransferase 2C; endonuclease-mediated mutation 2, Shanghai Model Organisms Center |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
Allele |
Name: |
lysine (K)-specific methyltransferase 2C; endonuclease-mediated mutation 1, Shanghai Model Organisms Center |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Conditional ready, No functional change |
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•
•
•
•
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DO Term |
|
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•
•
•
•
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Publication |
First Author: |
Ananthanarayanan M |
Year: |
2011 |
Journal: |
Am J Physiol Gastrointest Liver Physiol |
Title: |
Histone H3K4 trimethylation by MLL3 as part of ASCOM complex is critical for NR activation of bile acid transporter genes and is downregulated in cholestasis. |
Volume: |
300 |
Issue: |
5 |
Pages: |
G771-81 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kim DH |
Year: |
2011 |
Journal: |
Mol Endocrinol |
Title: |
Requirement for MLL3 in p53 regulation of hepatic expression of small heterodimer partner and bile acid homeostasis. |
Volume: |
25 |
Issue: |
12 |
Pages: |
2076-83 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
This entry represents the second ePHD finger of Histone-lysine N-methyltransferase 2C (KMT2C).The extended plant homeodomain (ePHD) zinc finger is characterized as Cys2HisCys5HisCys2His. KMT2C, also known as MLL3, is a histone H3 lysine 4 (H3K4) lysine methyltransferase that functions as a circadian factor contributing to genome-scale circadian transcription []. It is a component of a large complex that acts as a coactivator of multiple transcription factors, including the bile acid (BA)-activated nuclear receptor, farnesoid X receptor (FXR), a critical player in BA homeostasis. The MLL3 complex is essential for p53 transactivation of small heterodimer partner (SHP) []. KMT2C 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 its paralog MLL4 []. The ASCOM complex is critical for nuclear receptor (NR) activation of bile acid transporter genes and is down regulated in cholestasis []. KMT2C contains several PHD fingers, two ePHD fingers, an ATPase alpha beta signature, a high mobility group (HMG)-1 box, a SET (Suppressor of variegation, Enhancer of zeste, Trithorax) domain and two FY (phenylalanine tyrosine)-rich domains. |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
This entry represents the first ePHD finger of Histone-lysine N-methyltransferase 2C (KMT2C).The extended plant homeodomain (ePHD) zinc finger is characterized as Cys2HisCys5HisCys2His. KMT2C, also known as MLL3, is a histone H3 lysine 4 (H3K4) lysine methyltransferase that functions as a circadian factor contributing to genome-scale circadian transcription []. It is a component of a large complex that acts as a coactivator of multiple transcription factors, including the bile acid (BA)-activated nuclear receptor, farnesoid X receptor (FXR), a critical player in BA homeostasis. The MLL3 complex is essential for p53 transactivation of small heterodimer partner (SHP) []. KMT2C 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 its paralog MLL4 []. The ASCOM complex is critical for nuclear receptor (NR) activation of bile acid transporter genes and is down regulated in cholestasis []. KMT2C contains several PHD fingers, two ePHD fingers, an ATPase alpha beta signature, a high mobility group (HMG)-1 box, a SET (Suppressor of variegation, Enhancer of zeste, Trithorax) domain and two FY (phenylalanine tyrosine)-rich domains. |
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•
•
•
•
•
|
Protein Domain |
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 |
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 |
First Author: |
Adam MP |
Year: |
2019 |
Journal: |
J Med Genet |
Title: |
Kabuki syndrome: international consensus diagnostic criteria. |
Volume: |
56 |
Issue: |
2 |
Pages: |
89-95 |
|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mo R |
Year: |
2006 |
Journal: |
J Biol Chem |
Title: |
Identification of the MLL2 complex as a coactivator for estrogen receptor alpha. |
Volume: |
281 |
Issue: |
23 |
Pages: |
15714-20 |
|
•
•
•
•
•
|
Publication |
First Author: |
Goo YH |
Year: |
2003 |
Journal: |
Mol Cell Biol |
Title: |
Activating signal cointegrator 2 belongs to a novel steady-state complex that contains a subset of trithorax group proteins. |
Volume: |
23 |
Issue: |
1 |
Pages: |
140-9 |
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•
•
•
•
•
|
Publication |
First Author: |
Veeranki OL |
Year: |
2019 |
Journal: |
Dis Model Mech |
Title: |
A novel patient-derived orthotopic xenograft model of esophageal adenocarcinoma provides a platform for translational discoveries. |
Volume: |
12 |
Issue: |
12 |
|
|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
5588
|
Fragment?: |
false |
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•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
5588
|
Fragment?: |
false |
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•
•
•
•
|