Atlas of Genetics and Cytogenetics in Oncology and Haematology


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KMT2D (lysine methyltransferase 2D)

Identity

Other namesAAD10
ALR
CAGL114
KABUK1
KMS
MLL2
MLL4
TNRC21
HGNC (Hugo) KMT2D
LocusID (NCBI) 8085
Atlas_Id 41375
Location 12q13.12
Location_base_pair Starts at 49412758 and ends at 49449107 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
KMT2D (12q13.12) / LMBR1L (12q13.12)KMT2D (12q13.12) / RHEBL1 (12q13.12)

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)KMT2D   7133
Cards
Entrez_Gene (NCBI)KMT2D  8085  lysine methyltransferase 2D
AliasesAAD10; ALR; CAGL114; KABUK1; 
KMS; MLL2; MLL4; TNRC21
GeneCards (Weizmann)KMT2D
Ensembl hg19 (Hinxton)ENSG00000167548 [Gene_View]  chr12:49412758-49449107 [Contig_View]  KMT2D [Vega]
Ensembl hg38 (Hinxton)ENSG00000167548 [Gene_View]  chr12:49412758-49449107 [Contig_View]  KMT2D [Vega]
ICGC DataPortalENSG00000167548
TCGA cBioPortalKMT2D
AceView (NCBI)KMT2D
Genatlas (Paris)KMT2D
WikiGenes8085
SOURCE (Princeton)KMT2D
Genomic and cartography
GoldenPath hg19 (UCSC)KMT2D  -     chr12:49412758-49449107 -  12q13.12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)KMT2D  -     12q13.12   [Description]    (hg38-Dec_2013)
EnsemblKMT2D - 12q13.12 [CytoView hg19]  KMT2D - 12q13.12 [CytoView hg38]
Mapping of homologs : NCBIKMT2D [Mapview hg19]  KMT2D [Mapview hg38]
OMIM147920   602113   
Gene and transcription
Genbank (Entrez)AB209494 AF010403 AF010404 AL359940 AW997729
RefSeq transcript (Entrez)NM_003482
RefSeq genomic (Entrez)NC_000012 NC_018923 NG_027827 NT_029419 NW_004929384
Consensus coding sequences : CCDS (NCBI)KMT2D
Cluster EST : UnigeneHs.731384 [ NCBI ]
CGAP (NCI)Hs.731384
Alternative Splicing GalleryENSG00000167548
Gene ExpressionKMT2D [ NCBI-GEO ]   KMT2D [ EBI - ARRAY_EXPRESS ]   KMT2D [ SEEK ]   KMT2D [ MEM ]
Gene Expression Viewer (FireBrowse)KMT2D [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8085
GTEX Portal (Tissue expression)KMT2D
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14686 (Uniprot)
NextProtO14686  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14686
Splice isoforms : SwissVarO14686 (Swissvar)
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 ]   
PhosPhoSitePlusO14686
Domaine pattern : Prosite (Expaxy)FYRC (PS51543)    FYRN (PS51542)    POST_SET (PS50868)    SET (PS50280)    ZF_PHD_1 (PS01359)    ZF_PHD_2 (PS50016)    ZF_RING_2 (PS50089)   
Domains : Interpro (EBI)FYrich_C    FYrich_N    HMG_box_dom    Post-SET_dom    SET_dom    Znf_FYVE_PHD    Znf_PHD    Znf_PHD-finger    Znf_RING    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)FYRC (PF05965)    FYRN (PF05964)    PHD (PF00628)    SET (PF00856)   
Domain families : Pfam (NCBI)pfam05965    pfam05964    pfam00628    pfam00856   
Domain families : Smart (EMBL)FYRC (SM00542)  FYRN (SM00541)  HMG (SM00398)  PHD (SM00249)  PostSET (SM00508)  RING (SM00184)  SET (SM00317)  
DMDM Disease mutations8085
Blocks (Seattle)KMT2D
PDB (SRS)3UVK    4ERQ    4Z4P   
PDB (PDBSum)3UVK    4ERQ    4Z4P   
PDB (IMB)3UVK    4ERQ    4Z4P   
PDB (RSDB)3UVK    4ERQ    4Z4P   
Structural Biology KnowledgeBase3UVK    4ERQ    4Z4P   
SCOP (Structural Classification of Proteins)3UVK    4ERQ    4Z4P   
CATH (Classification of proteins structures)3UVK    4ERQ    4Z4P   
SuperfamilyO14686
Human Protein AtlasENSG00000167548
Peptide AtlasO14686
HPRD03664
IPIIPI00297859   IPI00377245   IPI00006642   IPI01022092   IPI00983407   
Protein Interaction databases
DIP (DOE-UCLA)O14686
IntAct (EBI)O14686
FunCoupENSG00000167548
BioGRIDKMT2D
STRING (EMBL)KMT2D
ZODIACKMT2D
Ontologies - Pathways
QuickGOO14686
Ontology : AmiGOoocyte growth  DNA binding  protein binding  nucleus  nucleoplasm  chromatin silencing  transcription, DNA-templated  regulation of transcription, DNA-templated  zinc ion binding  positive regulation of cell proliferation  histone-lysine N-methyltransferase activity  positive regulation of intracellular estrogen receptor signaling pathway  histone methyltransferase complex  histone methyltransferase activity (H3-K4 specific)  response to estrogen  transcription regulatory region DNA binding  MLL3/4 complex  positive regulation of transcription from RNA polymerase II promoter  oogenesis  histone H3-K4 methylation  beta-catenin-TCF complex assembly  
Ontology : EGO-EBIoocyte growth  DNA binding  protein binding  nucleus  nucleoplasm  chromatin silencing  transcription, DNA-templated  regulation of transcription, DNA-templated  zinc ion binding  positive regulation of cell proliferation  histone-lysine N-methyltransferase activity  positive regulation of intracellular estrogen receptor signaling pathway  histone methyltransferase complex  histone methyltransferase activity (H3-K4 specific)  response to estrogen  transcription regulatory region DNA binding  MLL3/4 complex  positive regulation of transcription from RNA polymerase II promoter  oogenesis  histone H3-K4 methylation  beta-catenin-TCF complex assembly  
Pathways : KEGGLysine degradation   
NDEx Network
Atlas of Cancer Signalling NetworkKMT2D
Wikipedia pathwaysKMT2D
Orthology - Evolution
OrthoDB8085
GeneTree (enSembl)ENSG00000167548
Phylogenetic Trees/Animal Genes : TreeFamKMT2D
Homologs : HomoloGeneKMT2D
Homology/Alignments : Family Browser (UCSC)KMT2D
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerKMT2D [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KMT2D
dbVarKMT2D
ClinVarKMT2D
1000_GenomesKMT2D 
Exome Variant ServerKMT2D
ExAC (Exome Aggregation Consortium)KMT2D (select the gene name)
Genetic variants : HAPMAP8085
Genomic Variants (DGV)KMT2D [DGVbeta]
Mutations
ICGC Data PortalKMT2D 
TCGA Data PortalKMT2D 
Broad Tumor PortalKMT2D
OASIS PortalKMT2D [ Somatic mutations - Copy number]
Cancer Gene: CensusKMT2D 
Somatic Mutations in Cancer : COSMICKMT2D 
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch KMT2D
DgiDB (Drug Gene Interaction Database)KMT2D
DoCM (Curated mutations)KMT2D (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KMT2D (select a term)
intoGenKMT2D
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)12:49412758-49449107  ENSG00000167548
CONAN: Copy Number AnalysisKMT2D 
Mutations and Diseases : HGMDKMT2D
OMIM147920    602113   
MedgenKMT2D
Genetic Testing Registry KMT2D
NextProtO14686 [Medical]
TSGene8085
GENETestsKMT2D
Huge Navigator KMT2D [HugePedia]
snp3D : Map Gene to Disease8085
BioCentury BCIQKMT2D
ClinGenKMT2D
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8085
Chemical/Pharm GKB GenePA30846
Clinical trialKMT2D
Miscellaneous
canSAR (ICR)KMT2D (select the gene name)
Probes
Litterature
PubMed81 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKMT2D
EVEXKMT2D
GoPubMedKMT2D
iHOPKMT2D
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 : Sat May 28 11:08:12 CEST 2016

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