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KMT2D (lysine (K)-specific methyltransferase 2D)

Identity

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

External links

Nomenclature
HGNC (Hugo)KMT2D   7133
Cards
Entrez_Gene (NCBI)KMT2D  8085  lysine (K)-specific methyltransferase 2D
GeneCards (Weizmann)KMT2D
Ensembl (Hinxton)ENSG00000167548 [Gene_View]  chr12:49412758-49449107 [Contig_View]  KMT2D [Vega]
AceView (NCBI)KMT2D
Genatlas (Paris)KMT2D
WikiGenes8085
SOURCE (Princeton)NM_003482
Genomic and cartography
GoldenPath (UCSC)KMT2D  -  12q13.12   chr12:49412758-49449107 -  12q13.12   [Description]    (hg19-Feb_2009)
EnsemblKMT2D - 12q13.12 [CytoView]
Mapping of homologs : NCBIKMT2D [Mapview]
OMIM147920   602113   
Gene and transcription
Genbank (Entrez)AB209494 AF010403 AF010404 AL359940 AW997729
RefSeq transcript (Entrez)NM_003482
RefSeq genomic (Entrez)AC_000144 NC_000012 NC_018923 NG_027827 NT_029419 NW_001838057 NW_004929384
Consensus coding sequences : CCDS (NCBI)KMT2D
Cluster EST : UnigeneHs.731384 [ NCBI ]
CGAP (NCI)Hs.731384
Alternative Splicing : Fast-db (Paris)GSHG0007436
Alternative Splicing GalleryENSG00000167548
Gene ExpressionKMT2D [ NCBI-GEO ]     KMT2D [ SEEK ]   KMT2D [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14686 (Uniprot)
NextProtO14686  [Medical]
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 ]   
Domaine pattern : Prosite (Expaxy)FYRC (PS51543)    FYRN (PS51542)    POST_SET (PS50868)    SET (PS50280)    ZF_PHD_1 (PS01359)    ZF_PHD_2 (PS50016)    ZF_RING_1 (PS00518)    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   
Related proteins : CluSTrO14686
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)O14686
PDB (SRS)3UVK    4ERQ   
PDB (PDBSum)3UVK    4ERQ   
PDB (IMB)3UVK    4ERQ   
PDB (RSDB)3UVK    4ERQ   
Human Protein AtlasENSG00000167548
Peptide AtlasO14686
HPRD03664
IPIIPI00297859   IPI00377245   IPI00006642   IPI01022092   IPI00983407   
Protein Interaction databases
DIP (DOE-UCLA)O14686
IntAct (EBI)O14686
FunCoupENSG00000167548
BioGRIDKMT2D
InParanoidO14686
Interologous Interaction database O14686
IntegromeDBKMT2D
STRING (EMBL)KMT2D
Ontologies - Pathways
Ontology : AmiGOoocyte growth  in utero embryonic development  DNA binding  protein binding  nucleus  chromatin silencing  transcription, DNA-templated  regulation of transcription, DNA-dependent  zinc ion binding  positive regulation of cell proliferation  histone-lysine N-methyltransferase activity  positive regulation of intracellular estrogen receptor signaling pathway  histone methyltransferase complex  response to estrogen  transcription regulatory region DNA binding  positive regulation of transcription from RNA polymerase II promoter  oogenesis  histone H3-K4 methylation  
Ontology : EGO-EBIoocyte growth  in utero embryonic development  DNA binding  protein binding  nucleus  chromatin silencing  transcription, DNA-templated  regulation of transcription, DNA-dependent  zinc ion binding  positive regulation of cell proliferation  histone-lysine N-methyltransferase activity  positive regulation of intracellular estrogen receptor signaling pathway  histone methyltransferase complex  response to estrogen  transcription regulatory region DNA binding  positive regulation of transcription from RNA polymerase II promoter  oogenesis  histone H3-K4 methylation  
Pathways : KEGGLysine degradation   
REACTOMEKMT2D
Protein Interaction DatabaseKMT2D
Wikipedia pathwaysKMT2D
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)KMT2D
SNP (GeneSNP Utah)KMT2D
SNP : HGBaseKMT2D
Genetic variants : HAPMAPKMT2D
1000_GenomesKMT2D 
ICGC programENSG00000167548 
Mutations and Diseases : HGMDKMT2D
OMIM147920    602113   
GENETestsKMT2D
Disease Genetic AssociationKMT2D
Huge Navigator KMT2D [HugePedia]  KMT2D [HugeCancerGEM]
Genomic VariantsKMT2D  KMT2D [DGVbeta]
Exome VariantKMT2D
dbVarKMT2D
ClinVarKMT2D
snp3D : Map Gene to Disease8085
General knowledge
Homologs : HomoloGeneKMT2D
Homology/Alignments : Family Browser (UCSC)KMT2D
Phylogenetic Trees/Animal Genes : TreeFamKMT2D
Chemical/Protein Interactions : CTD8085
Chemical/Pharm GKB GenePA30846
Clinical trialKMT2D
Cancer Resource (Charite)ENSG00000167548
Other databases
Probes
Litterature
PubMed56 Pubmed reference(s) in Entrez
CoreMineKMT2D
iHOPKMT2D
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Mar 31 09:10:39 CEST 2014

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