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KMT2D (lysine methyltransferase 2D)

Identity

Alias (NCBI)AAD10
ALR
CAGL114
KABUK1
KMS
MLL2
MLL4
TNRC21
HGNC (Hugo) KMT2D
HGNC Alias symbALR
MLL4
CAGL114
HGNC Alias namehistone-lysine N-methyltransferase 2D
HGNC Previous nameTNRC21
 MLL2
HGNC Previous nametrinucleotide repeat containing 21
 myeloid/lymphoid or mixed-lineage leukemia 2
 lysine (K)-specific methyltransferase 2D
LocusID (NCBI) 8085
Atlas_Id 41375
Location 12q13.12  [Link to chromosome band 12q13]
Location_base_pair Starts at 49018978 and ends at 49060794 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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

 



Other Leukemias implicated (Data extracted from papers in the Atlas) [ 5 ]
  Germinal center B-cell-like diffuse Large B-cell Lymphoma (GCB) DLBCL
Follicular lymphomas of germinal center (B- or T-cell) origin
Histiocytic Sarcoma
Ocular adnexal marginal zone lymphoma (OAMZL)
t(4;12)(q21;q13) KMT2D/SEC31A


External links

 

Nomenclature
HGNC (Hugo)KMT2D   7133
Cards
Entrez_Gene (NCBI)KMT2D    lysine methyltransferase 2D
AliasesAAD10; ALR; CAGL114; KABUK1; 
KMS; MLL2; MLL4; TNRC21
GeneCards (Weizmann)KMT2D
Ensembl hg19 (Hinxton)ENSG00000167548 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000167548 [Gene_View]  ENSG00000167548 [Sequence]  chr12:49018978-49060794 [Contig_View]  KMT2D [Vega]
ICGC DataPortalENSG00000167548
TCGA cBioPortalKMT2D
AceView (NCBI)KMT2D
Genatlas (Paris)KMT2D
SOURCE (Princeton)KMT2D
Genetics Home Reference (NIH)KMT2D
Genomic and cartography
GoldenPath hg38 (UCSC)KMT2D  -     chr12:49018978-49060794 -  12q13.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KMT2D  -     12q13.12   [Description]    (hg19-Feb_2009)
GoldenPathKMT2D - 12q13.12 [CytoView hg19]  KMT2D - 12q13.12 [CytoView hg38]
ImmunoBaseENSG00000167548
Genome Data Viewer NCBIKMT2D [Mapview hg19]  
OMIM147920   602113   
Gene and transcription
Genbank (Entrez)AB209494 AF010403 AF010404 AL359940 AW997729
RefSeq transcript (Entrez)NM_003482
Consensus coding sequences : CCDS (NCBI)KMT2D
Gene ExpressionKMT2D [ NCBI-GEO ]   KMT2D [ EBI - ARRAY_EXPRESS ]   KMT2D [ SEEK ]   KMT2D [ MEM ]
Gene Expression Viewer (FireBrowse)KMT2D [ Firebrowse - Broad ]
GenevisibleExpression of KMT2D in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8085
GTEX Portal (Tissue expression)KMT2D
Human Protein AtlasENSG00000167548-KMT2D [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14686   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO14686  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14686
PhosPhoSitePlusO14686
Domaine pattern : Prosite (Expaxy)EPHD (PS51805)    FYRC (PS51543)    FYRN (PS51542)    POST_SET (PS50868)    SET (PS50280)    ZF_PHD_1 (PS01359)    ZF_PHD_2 (PS50016)    ZF_RING_2 (PS50089)   
Domains : Interpro (EBI)EPHD    FYrich_C    FYrich_N    HMG_box_dom    HMG_box_dom_sf    KMT2D    KMT2D_ePHD1    KMT2D_ePHD2    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)  
Conserved Domain (NCBI)KMT2D
PDB (RSDB)3UVK    4ERQ    4Z4P    6O7G   
PDB Europe3UVK    4ERQ    4Z4P    6O7G   
PDB (PDBSum)3UVK    4ERQ    4Z4P    6O7G   
PDB (IMB)3UVK    4ERQ    4Z4P    6O7G   
Structural Biology KnowledgeBase3UVK    4ERQ    4Z4P    6O7G   
SCOP (Structural Classification of Proteins)3UVK    4ERQ    4Z4P    6O7G   
CATH (Classification of proteins structures)3UVK    4ERQ    4Z4P    6O7G   
SuperfamilyO14686
AlphaFold pdb e-kbO14686   
Human Protein Atlas [tissue]ENSG00000167548-KMT2D [tissue]
HPRD03664
Protein Interaction databases
DIP (DOE-UCLA)O14686
IntAct (EBI)O14686
BioGRIDKMT2D
STRING (EMBL)KMT2D
ZODIACKMT2D
Ontologies - Pathways
QuickGOO14686
Ontology : AmiGOtranscription cis-regulatory region binding  oocyte growth  DNA binding  transcription coactivator activity  protein binding  nucleus  nucleoplasm  chromatin silencing  regulation of transcription, DNA-templated  positive regulation of cell population proliferation  positive regulation of intracellular estrogen receptor signaling pathway  histone methyltransferase complex  histone binding  histone methyltransferase activity (H3-K4 specific)  response to estrogen  histone H3-K4 dimethylation  MLL3/4 complex  MLL3/4 complex  regulation of megakaryocyte differentiation  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  metal ion binding  oogenesis  histone H3-K4 methylation  histone H3-K4 trimethylation  histone H3-K4 monomethylation  beta-catenin-TCF complex assembly  
Ontology : EGO-EBItranscription cis-regulatory region binding  oocyte growth  DNA binding  transcription coactivator activity  protein binding  nucleus  nucleoplasm  chromatin silencing  regulation of transcription, DNA-templated  positive regulation of cell population proliferation  positive regulation of intracellular estrogen receptor signaling pathway  histone methyltransferase complex  histone binding  histone methyltransferase activity (H3-K4 specific)  response to estrogen  histone H3-K4 dimethylation  MLL3/4 complex  MLL3/4 complex  regulation of megakaryocyte differentiation  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  metal ion binding  oogenesis  histone H3-K4 methylation  histone H3-K4 trimethylation  histone H3-K4 monomethylation  beta-catenin-TCF complex assembly  
Pathways : KEGGLysine degradation   
NDEx NetworkKMT2D
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
Fusion : QuiverKMT2D
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKMT2D [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KMT2D
dbVarKMT2D
ClinVarKMT2D
MonarchKMT2D
1000_GenomesKMT2D 
Exome Variant ServerKMT2D
GNOMAD BrowserENSG00000167548
Varsome BrowserKMT2D
ACMGKMT2D variants
VarityO14686
Genomic Variants (DGV)KMT2D [DGVbeta]
DECIPHERKMT2D [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKMT2D 
Mutations
ICGC Data PortalKMT2D 
TCGA Data PortalKMT2D 
Broad Tumor PortalKMT2D
OASIS PortalKMT2D [ Somatic mutations - Copy number]
Cancer Gene: CensusKMT2D 
Somatic Mutations in Cancer : COSMICKMT2D  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DKMT2D
Mutations and Diseases : HGMDKMT2D
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaKMT2D
DgiDB (Drug Gene Interaction Database)KMT2D
DoCM (Curated mutations)KMT2D
CIViC (Clinical Interpretations of Variants in Cancer)KMT2D
Cancer3DKMT2D
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM147920    602113   
Orphanet2177   
DisGeNETKMT2D
MedgenKMT2D
Genetic Testing Registry KMT2D
NextProtO14686 [Medical]
GENETestsKMT2D
Target ValidationKMT2D
Huge Navigator KMT2D [HugePedia]
ClinGenKMT2D
Clinical trials, drugs, therapy
MyCancerGenomeKMT2D
Protein Interactions : CTDKMT2D
Pharm GKB GenePA30846
PharosO14686
Clinical trialKMT2D
Miscellaneous
canSAR (ICR)KMT2D
HarmonizomeKMT2D
DataMed IndexKMT2D
Probes
Litterature
PubMed189 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXKMT2D
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 : Mon Oct 4 15:15:17 CEST 2021

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