Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

KMT2B (lysine methyltransferase 2B)

Identity

Alias_namesDrosophila) 4
Alias_symbol (synonym)KIAA0304
MLL2
TRX2
HRX2
WBP7
MLL1B
MLL4
CXXC10
Other aliasWBP-7
HGNC (Hugo) KMT2B
LocusID (NCBI) 9757
Atlas_Id 41377
Location 19q13.12  [Link to chromosome band 19q13]
Location_base_pair Starts at 36208921 and ends at 36229781 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
C20orf96 (20p13) / KMT2B (19q13.12)KMT2B (19q13.12) / AFF1 (4q21.3)KMT2B (19q13.12) / GPS2 (17p13.1)
KMT2B (19q13.12) / HLA-DPA1 (6p21.32)KMT2B (19q13.12) / KMT2B (19q13.12)KMT2B (19q13.12) / LMBR1L (12q13.12)
KMT2B (19q13.12) / MLLT1 (19p13.3)KMT2B (19q13.12) / MLLT10 (10p12.31)KMT2B (19q13.12) / MLLT3 (9p21.3)
KMT2B (19q13.12) / RHEBL1 (12q13.12)KMT2B (19q13.12) / SH3GL1 (19p13.3)KMT2B (19q13.12) / SUPT16H (14q11.2)
LHFPL3 (7q22.2) / KMT2B (19q13.12)NDE1 (16p13.11) / KMT2B (19q13.12)POMK (8p11.21) / KMT2B (19q13.12)
RPL10 (Xq28) / KMT2B (19q13.12)

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)KMT2B   15840
Cards
Entrez_Gene (NCBI)KMT2B  9757  lysine methyltransferase 2B
AliasesCXXC10; HRX2; MLL1B; MLL2; 
MLL4; TRX2; WBP-7; WBP7
GeneCards (Weizmann)KMT2B
Ensembl hg19 (Hinxton)ENSG00000272333 [Gene_View]  chr19:36208921-36229781 [Contig_View]  KMT2B [Vega]
Ensembl hg38 (Hinxton)ENSG00000272333 [Gene_View]  chr19:36208921-36229781 [Contig_View]  KMT2B [Vega]
ICGC DataPortalENSG00000272333
TCGA cBioPortalKMT2B
AceView (NCBI)KMT2B
Genatlas (Paris)KMT2B
WikiGenes9757
SOURCE (Princeton)KMT2B
Genetics Home Reference (NIH)KMT2B
Genomic and cartography
GoldenPath hg19 (UCSC)KMT2B  -     chr19:36208921-36229781 +  19q13.12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)KMT2B  -     19q13.12   [Description]    (hg38-Dec_2013)
EnsemblKMT2B - 19q13.12 [CytoView hg19]  KMT2B - 19q13.12 [CytoView hg38]
Mapping of homologs : NCBIKMT2B [Mapview hg19]  KMT2B [Mapview hg38]
OMIM606834   
Gene and transcription
Genbank (Entrez)AB002302 AF104918 AF105279 AF105280 AF186605
RefSeq transcript (Entrez)NM_014727
RefSeq genomic (Entrez)NC_000019 NC_018930 NT_011109 NW_004929415
Consensus coding sequences : CCDS (NCBI)KMT2B
Cluster EST : UnigeneHs.676457 [ NCBI ]
CGAP (NCI)Hs.676457
Alternative Splicing GalleryENSG00000272333
Gene ExpressionKMT2B [ NCBI-GEO ]   KMT2B [ EBI - ARRAY_EXPRESS ]   KMT2B [ SEEK ]   KMT2B [ MEM ]
Gene Expression Viewer (FireBrowse)KMT2B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9757
GTEX Portal (Tissue expression)KMT2B
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UMN6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UMN6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UMN6
Splice isoforms : SwissVarQ9UMN6
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 ]   
PhosPhoSitePlusQ9UMN6
Domaine pattern : Prosite (Expaxy)FYRC (PS51543)    FYRN (PS51542)    POST_SET (PS50868)    SET (PS50280)    ZF_CXXC (PS51058)    ZF_PHD_1 (PS01359)    ZF_PHD_2 (PS50016)   
Domains : Interpro (EBI)AT_hook_DNA-bd_motif    FYrich_C    FYrich_N    Post-SET_dom    SET_dom    Znf_CXXC    Znf_FYVE_PHD    Znf_PHD    Znf_PHD-finger    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)FYRC (PF05965)    FYRN (PF05964)    PHD (PF00628)    SET (PF00856)    zf-CXXC (PF02008)   
Domain families : Pfam (NCBI)pfam05965    pfam05964    pfam00628    pfam00856    pfam02008   
Domain families : Smart (EMBL)AT_hook (SM00384)  FYRC (SM00542)  FYRN (SM00541)  PHD (SM00249)  PostSET (SM00508)  SET (SM00317)  
Conserved Domain (NCBI)KMT2B
DMDM Disease mutations9757
Blocks (Seattle)KMT2B
PDB (SRS)3UVM    4ERZ    4PZI   
PDB (PDBSum)3UVM    4ERZ    4PZI   
PDB (IMB)3UVM    4ERZ    4PZI   
PDB (RSDB)3UVM    4ERZ    4PZI   
Structural Biology KnowledgeBase3UVM    4ERZ    4PZI   
SCOP (Structural Classification of Proteins)3UVM    4ERZ    4PZI   
CATH (Classification of proteins structures)3UVM    4ERZ    4PZI   
SuperfamilyQ9UMN6
Human Protein AtlasENSG00000272333
Peptide AtlasQ9UMN6
HPRD06017
IPIIPI00218823   IPI00220925   
Protein Interaction databases
DIP (DOE-UCLA)Q9UMN6
IntAct (EBI)Q9UMN6
FunCoupENSG00000272333
BioGRIDKMT2B
STRING (EMBL)KMT2B
ZODIACKMT2B
Ontologies - Pathways
QuickGOQ9UMN6
Ontology : AmiGOovarian follicle development  DNA binding  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  nucleoplasm  transcription, DNA-templated  memory  zinc ion binding  oocyte differentiation  gene silencing  histone-lysine N-methyltransferase activity  ovulation  histone methyltransferase complex  histone methyltransferase activity (H3-K4 specific)  chromatin-mediated maintenance of transcription  histone H3-K4 methylation  regulation of histone H3-K4 methylation  histone H3-K4 trimethylation  
Ontology : EGO-EBIovarian follicle development  DNA binding  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  nucleoplasm  transcription, DNA-templated  memory  zinc ion binding  oocyte differentiation  gene silencing  histone-lysine N-methyltransferase activity  ovulation  histone methyltransferase complex  histone methyltransferase activity (H3-K4 specific)  chromatin-mediated maintenance of transcription  histone H3-K4 methylation  regulation of histone H3-K4 methylation  histone H3-K4 trimethylation  
Pathways : KEGGLysine degradation   
NDEx NetworkKMT2B
Atlas of Cancer Signalling NetworkKMT2B
Wikipedia pathwaysKMT2B
Orthology - Evolution
OrthoDB9757
GeneTree (enSembl)ENSG00000272333
Phylogenetic Trees/Animal Genes : TreeFamKMT2B
HOVERGENQ9UMN6
HOGENOMQ9UMN6
Homologs : HomoloGeneKMT2B
Homology/Alignments : Family Browser (UCSC)KMT2B
Gene fusions - Rearrangements
Fusion : MitelmanKMT2B/GPS2 [19q13.12/17p13.1]  
Fusion : MitelmanKMT2B/LMBR1L [19q13.12/12q13.12]  [t(12;12)(q13;q13)]  
Fusion : MitelmanKMT2B/RHEBL1 [19q13.12/12q13.12]  [t(12;12)(q13;q13)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKMT2B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KMT2B
dbVarKMT2B
ClinVarKMT2B
1000_GenomesKMT2B 
Exome Variant ServerKMT2B
ExAC (Exome Aggregation Consortium)KMT2B (select the gene name)
Genetic variants : HAPMAP9757
Genomic Variants (DGV)KMT2B [DGVbeta]
DECIPHER (Syndromes)19:36208921-36229781  ENSG00000272333
CONAN: Copy Number AnalysisKMT2B 
Mutations
ICGC Data PortalKMT2B 
TCGA Data PortalKMT2B 
Broad Tumor PortalKMT2B
OASIS PortalKMT2B [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDKMT2B
intOGen PortalMLL2
BioMutasearch KMT2B
DgiDB (Drug Gene Interaction Database)KMT2B
DoCM (Curated mutations)KMT2B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KMT2B (select a term)
intoGenKMT2B
Cancer3DKMT2B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606834   
Orphanet
MedgenKMT2B
Genetic Testing Registry KMT2B
NextProtQ9UMN6 [Medical]
TSGene9757
GENETestsKMT2B
Huge Navigator KMT2B [HugePedia]
snp3D : Map Gene to Disease9757
BioCentury BCIQKMT2B
ClinGenKMT2B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9757
Clinical trialKMT2B
Miscellaneous
canSAR (ICR)KMT2B (select the gene name)
Probes
Litterature
PubMed44 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKMT2B
EVEXKMT2B
GoPubMedKMT2B
iHOPKMT2B
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 : Thu Mar 30 15:06:26 CEST 2017

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.