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Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret jlhuret@AtlasGeneticsOncology.org
Donations are also welcome
If each casual visitor gives 3 Euros or Dollars, the Atlas is saved in a week !
If each professional gives 100 Euros or Dollars once a year (now), the Atlas is saved in 2 weeks !
Don't let the Atlas imminent demise
Note: we send fiscal receipts for donations equal or above 50 Euros or Dollars

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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 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
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 : Fast-db (Paris)GSHG0007436
Alternative Splicing GalleryENSG00000167548
Gene ExpressionKMT2D [ NCBI-GEO ]     KMT2D [ SEEK ]   KMT2D [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
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_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
IntegromeDBKMT2D
STRING (EMBL)KMT2D
Ontologies - Pathways
QuickGOO14686
Ontology : AmiGOoocyte growth  DNA binding  protein binding  nucleus  nucleoplasm  chromatin organization  chromatin silencing  transcription, DNA-templated  regulation of transcription, DNA-templated  zinc ion binding  positive regulation of cell proliferation  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  positive regulation of transcription from RNA polymerase II promoter  oogenesis  histone H3-K4 methylation  
Ontology : EGO-EBIoocyte growth  DNA binding  protein binding  nucleus  nucleoplasm  chromatin organization  chromatin silencing  transcription, DNA-templated  regulation of transcription, DNA-templated  zinc ion binding  positive regulation of cell proliferation  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  positive regulation of transcription from RNA polymerase II promoter  oogenesis  histone H3-K4 methylation  
Pathways : KEGGLysine degradation   
Protein Interaction DatabaseKMT2D
DoCM (Curated mutations)KMT2D
Wikipedia pathwaysKMT2D
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerKMT2D [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KMT2D
dbVarKMT2D
ClinVarKMT2D
1000_GenomesKMT2D 
Exome Variant ServerKMT2D
SNP (GeneSNP Utah)KMT2D
SNP : HGBaseKMT2D
Genetic variants : HAPMAPKMT2D
Genomic Variants (DGV)KMT2D [DGVbeta]
Mutations
ICGC Data PortalENSG00000167548 
Cancer Gene: CensusKMT2D 
Somatic Mutations in Cancer : COSMICKMT2D 
CONAN: Copy Number AnalysisKMT2D 
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)12:49412758-49449107
Mutations and Diseases : HGMDKMT2D
OMIM147920    602113   
MedgenKMT2D
NextProtO14686 [Medical]
GENETestsKMT2D
Disease Genetic AssociationKMT2D
Huge Navigator KMT2D [HugePedia]  KMT2D [HugeCancerGEM]
snp3D : Map Gene to Disease8085
DGIdb (Drug Gene Interaction db)KMT2D
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
PubMed68 Pubmed reference(s) in Entrez
CoreMineKMT2D
GoPubMedKMT2D
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
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Mar 28 15:47:33 CET 2015

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For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.