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KMT2E (lysine methyltransferase 2E)

Identity

Alias_namesMLL5
myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)
lysine (K)-specific methyltransferase 2E
Alias_symbol (synonym)HDCMC04P
Other aliasNKp44L
HGNC (Hugo) KMT2E
LocusID (NCBI) 55904
Atlas_Id 41378
Location 7q22.3  [Link to chromosome band 7q22]
Location_base_pair Starts at 104654637 and ends at 104754532 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
KMT2E (7q22.3) / ALX4 (11p11.2)KMT2E (7q22.3) / DRAM1 (12q23.2)KMT2E (7q22.3) / DYNC1I1 (7q21.3)
KMT2E (7q22.3) / KMT2E (7q22.3)KMT2E (7q22.3) / LHFPL3 (7q22.2)KMT2E (7q22.3) / NFKBID (19q13.12)
KMT2E (7q22.3) / SDC4 (20q13.12)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)KMT2E   18541
Cards
Entrez_Gene (NCBI)KMT2E  55904  lysine methyltransferase 2E
AliasesHDCMC04P; MLL5; NKp44L
GeneCards (Weizmann)KMT2E
Ensembl hg19 (Hinxton)ENSG00000005483 [Gene_View]  chr7:104654637-104754532 [Contig_View]  KMT2E [Vega]
Ensembl hg38 (Hinxton)ENSG00000005483 [Gene_View]  chr7:104654637-104754532 [Contig_View]  KMT2E [Vega]
ICGC DataPortalENSG00000005483
TCGA cBioPortalKMT2E
AceView (NCBI)KMT2E
Genatlas (Paris)KMT2E
WikiGenes55904
SOURCE (Princeton)KMT2E
Genetics Home Reference (NIH)KMT2E
Genomic and cartography
GoldenPath hg19 (UCSC)KMT2E  -     chr7:104654637-104754532 +  7q22.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)KMT2E  -     7q22.3   [Description]    (hg38-Dec_2013)
EnsemblKMT2E - 7q22.3 [CytoView hg19]  KMT2E - 7q22.3 [CytoView hg38]
Mapping of homologs : NCBIKMT2E [Mapview hg19]  KMT2E [Mapview hg38]
OMIM608444   
Gene and transcription
Genbank (Entrez)AF067804 AF519459 AK000940 AK024088 AY113691
RefSeq transcript (Entrez)NM_018682 NM_032187 NM_182931
RefSeq genomic (Entrez)NC_000007 NC_018918 NG_033949 NT_007933 NW_004929332
Consensus coding sequences : CCDS (NCBI)KMT2E
Cluster EST : UnigeneHs.592262 [ NCBI ]
CGAP (NCI)Hs.592262
Alternative Splicing GalleryENSG00000005483
Gene ExpressionKMT2E [ NCBI-GEO ]   KMT2E [ EBI - ARRAY_EXPRESS ]   KMT2E [ SEEK ]   KMT2E [ MEM ]
Gene Expression Viewer (FireBrowse)KMT2E [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55904
GTEX Portal (Tissue expression)KMT2E
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IZD2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IZD2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IZD2
Splice isoforms : SwissVarQ8IZD2
Catalytic activity : Enzyme2.1.1.43 [ Enzyme-Expasy ]   2.1.1.432.1.1.43 [ IntEnz-EBI ]   2.1.1.43 [ BRENDA ]   2.1.1.43 [ KEGG ]   
PhosPhoSitePlusQ8IZD2
Domaine pattern : Prosite (Expaxy)SET (PS50280)    ZF_PHD_1 (PS01359)    ZF_PHD_2 (PS50016)   
Domains : Interpro (EBI)SET_dom    Zinc_finger_PHD-type_CS    Znf_FYVE_PHD    Znf_PHD    Znf_PHD-finger    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)PHD (PF00628)    SET (PF00856)   
Domain families : Pfam (NCBI)pfam00628    pfam00856   
Domain families : Smart (EMBL)PHD (SM00249)  SET (SM00317)  
Conserved Domain (NCBI)KMT2E
DMDM Disease mutations55904
Blocks (Seattle)KMT2E
PDB (SRS)2LV9    4L58   
PDB (PDBSum)2LV9    4L58   
PDB (IMB)2LV9    4L58   
PDB (RSDB)2LV9    4L58   
Structural Biology KnowledgeBase2LV9    4L58   
SCOP (Structural Classification of Proteins)2LV9    4L58   
CATH (Classification of proteins structures)2LV9    4L58   
SuperfamilyQ8IZD2
Human Protein AtlasENSG00000005483
Peptide AtlasQ8IZD2
HPRD10528
IPIIPI00337726   IPI00895932   IPI00895774   IPI00383482   IPI00384449   IPI00895784   IPI00647901   IPI00983907   IPI00385578   IPI00217979   IPI00384354   IPI00947204   IPI00946564   IPI00946059   IPI00947022   IPI00945738   
Protein Interaction databases
DIP (DOE-UCLA)Q8IZD2
IntAct (EBI)Q8IZD2
FunCoupENSG00000005483
BioGRIDKMT2E
STRING (EMBL)KMT2E
ZODIACKMT2E
Ontologies - Pathways
QuickGOQ8IZD2
Ontology : AmiGOneutrophil mediated immunity  transcription coactivator activity  protein binding  nucleoplasm  nucleoplasm  cytoplasm  plasma membrane  DNA methylation  transcription, DNA-templated  cell cycle arrest  zinc ion binding  nuclear speck  histone-lysine N-methyltransferase activity  enzyme binding  erythrocyte differentiation  positive regulation of granulocyte differentiation  neutrophil activation  histone methyltransferase activity (H3-K4 specific)  intracellular membrane-bounded organelle  intercellular bridge  positive regulation of transcription, DNA-templated  retinoic acid receptor signaling pathway  histone H3-K4 methylation  MLL5-L complex  cellular response to retinoic acid  
Ontology : EGO-EBIneutrophil mediated immunity  transcription coactivator activity  protein binding  nucleoplasm  nucleoplasm  cytoplasm  plasma membrane  DNA methylation  transcription, DNA-templated  cell cycle arrest  zinc ion binding  nuclear speck  histone-lysine N-methyltransferase activity  enzyme binding  erythrocyte differentiation  positive regulation of granulocyte differentiation  neutrophil activation  histone methyltransferase activity (H3-K4 specific)  intracellular membrane-bounded organelle  intercellular bridge  positive regulation of transcription, DNA-templated  retinoic acid receptor signaling pathway  histone H3-K4 methylation  MLL5-L complex  cellular response to retinoic acid  
Pathways : KEGGLysine degradation   
NDEx NetworkKMT2E
Atlas of Cancer Signalling NetworkKMT2E
Wikipedia pathwaysKMT2E
Orthology - Evolution
OrthoDB55904
GeneTree (enSembl)ENSG00000005483
Phylogenetic Trees/Animal Genes : TreeFamKMT2E
HOVERGENQ8IZD2
HOGENOMQ8IZD2
Homologs : HomoloGeneKMT2E
Homology/Alignments : Family Browser (UCSC)KMT2E
Gene fusions - Rearrangements
Fusion : MitelmanKMT2E/DRAM1 [7q22.3/12q23.2]  
Fusion : MitelmanKMT2E/LHFPL3 [7q22.3/7q22.2]  [t(7;7)(q22;q22)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKMT2E [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KMT2E
dbVarKMT2E
ClinVarKMT2E
1000_GenomesKMT2E 
Exome Variant ServerKMT2E
ExAC (Exome Aggregation Consortium)KMT2E (select the gene name)
Genetic variants : HAPMAP55904
Genomic Variants (DGV)KMT2E [DGVbeta]
DECIPHER (Syndromes)7:104654637-104754532  ENSG00000005483
CONAN: Copy Number AnalysisKMT2E 
Mutations
ICGC Data PortalKMT2E 
TCGA Data PortalKMT2E 
Broad Tumor PortalKMT2E
OASIS PortalKMT2E [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDKMT2E
BioMutasearch KMT2E
DgiDB (Drug Gene Interaction Database)KMT2E
DoCM (Curated mutations)KMT2E (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KMT2E (select a term)
intoGenKMT2E
Cancer3DKMT2E(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608444   
Orphanet
MedgenKMT2E
Genetic Testing Registry KMT2E
NextProtQ8IZD2 [Medical]
TSGene55904
GENETestsKMT2E
Huge Navigator KMT2E [HugePedia]
snp3D : Map Gene to Disease55904
BioCentury BCIQKMT2E
ClinGenKMT2E
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55904
Chemical/Pharm GKB GenePA38568
Clinical trialKMT2E
Miscellaneous
canSAR (ICR)KMT2E (select the gene name)
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKMT2E
EVEXKMT2E
GoPubMedKMT2E
iHOPKMT2E
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 13:12:11 CET 2017

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