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Summary Expression Gene Literature (4) GO Terms (16) Nucleotides (225) Proteins (47) Interactants (62) Wiki
XB-GENEPAGE-855724
Gene Symbol:
kmt2d

Gene Name:
lysine methyltransferase 2D

Synonyms:
mll2 ( Add synonyms , Nomenclature history )

Gene Function:
zinc-finger-like PHD finger, transcription factor

Protein Function :


InterPro :
RetinoicA-induced 16-like , CHMP1A , Snf7 fam

Interactants:
Loading ...

Diseases: 


Disease Ontology:
Kabuki syndrome

OMIM:
KABUKI SYNDROME 1; KABUK1

External Links:
 
Xenbase Gene ID XB-GENE-855725 XB-GENE-6486303 XB-GENE-17340804
Gene Symbol kmt2d kmt2d.L kmt2d.S
Chromosome Chr02 chr2L chr2S
Molecules X. tropicalis X. laevis.L X. laevis.S
Genomic Sequence Version 9.1 Version 9.2 Version 9.2
CDS Gene model Gene model
Entrez Gene 100494109
108708548
108708990
mRNA NCBI Nucleotide NCBI Nucleotide NCBI Nucleotide
Protein NCBI Protein NCBI Protein  More.. NCBI Protein NCBI Protein  More.. NCBI Protein
Genomic
 X. tropicalis X. laevis.L X. laevis.S
Genome Browser
(Click image to open in Genome Browser)
Genomic Synteny Genomicus PANTHER
Expression                  Development Stages    Embryonic TissuesAdult Tissues
Summary for
More Information
Xenbase Expression Details In situ images Single cell data at SPRING Ensembl In situ: Single cell: RNA-Seq:
Data Mining X. tropicalis X. laevis.L X. laevis.S
XenMine kmt2d kmt2d.L kmt2d.S
Orthology
Knowledgebases Entrez Gene Genetic Phenotypes Gene Expression
human
HGNC AGR, OMIM:Gene, GeneCards KMT2D OMIM Ensembl, Allen Brain Atlas, Protein Atlas
mouse
MGI, AGR Kmt2d MGI, IMPC Ensembl, Allen Brain Atlas, Eurexpress, MGI
rat
RGD, AGR Kmt2d Ensembl
zebrafish
ZFIN, AGR kmt2d ZFIN Ensembl
chicken
GEISHA KMT2D Ensembl
fruit fly
worm
Publications
First WDR5 associates with histone H3 methylated at K4 and is essential for H3 K4 methylation and vertebrate development., Cell 2005    
Most Recent The histone methyltransferase KMT2D, mutated in Kabuki syndrome patients, is required for neural crest cell formation and migration., Hum Mol Genet 2020                  
All View All Papers 1 paper(s) referencing morpholinos 2 paper(s) referencing OMIMs 2 paper(s) referencing Disease Ontology
Functional Ontologies X. tropicalis X. laevis.L X. laevis.S
GO 16 terms 0 term 0 term
PANTHER kmt2d
KEGG Pathways
KOG [R] Putative transcription factor HALR/MLL3, involved in embryonic development
Reagents X. tropicalis X. laevis.L X. laevis.S
CRISPRscan Tracks kmt2d
Morpholinos kmt2d MO1 , kmt2d MO2 kmt2d MO1 , kmt2d MO2 kmt2d MO1 , kmt2d MO2
Clones Horizon Horizon Source BioScience Horizon
Plasmids Addgene Addgene

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