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KMT2C (lysine methyltransferase 2C)

Identity

Alias_namesMLL3
myeloid/lymphoid or mixed-lineage leukemia 3
lysine (K)-specific methyltransferase 2C
Alias_symbol (synonym)KIAA1506
HALR
Other alias
HGNC (Hugo) KMT2C
LocusID (NCBI) 58508
Atlas_Id 41376
Location 7q36.1  [Link to chromosome band 7q36]
Location_base_pair Starts at 151832010 and ends at 152133090 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
BICD1 (12p11.21) / KMT2C (7q36.1)KMT2C (7q36.1) / ACTR3B (7q36.1)KMT2C (7q36.1) / CALN1 (7q11.22)
KMT2C (7q36.1) / CLIP2 (7q11.23)KMT2C (7q36.1) / CNTNAP2 (7q35)KMT2C (7q36.1) / CST4 (20p11.21)
KMT2C (7q36.1) / GALNTL5 (7q36.1)KMT2C (7q36.1) / GTF2IRD1 (7q11.23)KMT2C (7q36.1) / KMT2C (7q36.1)
KMT2C (7q36.1) / SYTL5 (Xp11.4)KMT2C (7q36.1) / XRCC2 (7q36.1)PRKAG2 (7q36.1) / KMT2C (7q36.1)
RBM28 (7q32.1) / KMT2C (7q36.1)SQSTM1 (5q35.3) / KMT2C (7q36.1)TMEM245 (9q31.3) / KMT2C (7q36.1)
UBR5 (8q22.3) / KMT2C (7q36.1)

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)KMT2C   13726
Cards
Entrez_Gene (NCBI)KMT2C  58508  lysine methyltransferase 2C
AliasesHALR; MLL3
GeneCards (Weizmann)KMT2C
Ensembl hg19 (Hinxton)ENSG00000055609 [Gene_View]  chr7:151832010-152133090 [Contig_View]  KMT2C [Vega]
Ensembl hg38 (Hinxton)ENSG00000055609 [Gene_View]  chr7:151832010-152133090 [Contig_View]  KMT2C [Vega]
ICGC DataPortalENSG00000055609
TCGA cBioPortalKMT2C
AceView (NCBI)KMT2C
Genatlas (Paris)KMT2C
WikiGenes58508
SOURCE (Princeton)KMT2C
Genetics Home Reference (NIH)KMT2C
Genomic and cartography
GoldenPath hg19 (UCSC)KMT2C  -     chr7:151832010-152133090 -  7q36.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)KMT2C  -     7q36.1   [Description]    (hg38-Dec_2013)
EnsemblKMT2C - 7q36.1 [CytoView hg19]  KMT2C - 7q36.1 [CytoView hg38]
Mapping of homologs : NCBIKMT2C [Mapview hg19]  KMT2C [Mapview hg38]
OMIM606833   
Gene and transcription
Genbank (Entrez)AB040939 AF264750 AK022687 AK025553 AK025911
RefSeq transcript (Entrez)NM_021230 NM_170606
RefSeq genomic (Entrez)NC_000007 NC_018918 NG_033948 NT_007933 NW_004929333
Consensus coding sequences : CCDS (NCBI)KMT2C
Cluster EST : UnigeneHs.647120 [ NCBI ]
CGAP (NCI)Hs.647120
Alternative Splicing GalleryENSG00000055609
Gene ExpressionKMT2C [ NCBI-GEO ]   KMT2C [ EBI - ARRAY_EXPRESS ]   KMT2C [ SEEK ]   KMT2C [ MEM ]
Gene Expression Viewer (FireBrowse)KMT2C [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)58508
GTEX Portal (Tissue expression)KMT2C
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NEZ4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NEZ4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NEZ4
Splice isoforms : SwissVarQ8NEZ4
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 ]   
PhosPhoSitePlusQ8NEZ4
Domaine pattern : Prosite (Expaxy)FYRC (PS51543)    FYRN (PS51542)    HMGI_Y (PS00354)    POST_SET (PS50868)    SET (PS50280)    ZF_DHHC (PS50216)    ZF_PHD_1 (PS01359)    ZF_PHD_2 (PS50016)    ZF_RING_2 (PS50089)   
Domains : Interpro (EBI)AT_hook_DNA-bd_motif    FYrich_C    FYrich_N    HMG_box_dom    HMGI/Y_DNA-bd_CS    PE/DAG-bd    Post-SET_dom    SET_dom    Znf_DHHC_palmitoyltrfase    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)AT_hook (SM00384)  C1 (SM00109)  FYRC (SM00542)  FYRN (SM00541)  HMG (SM00398)  PHD (SM00249)  PostSET (SM00508)  RING (SM00184)  SET (SM00317)  
Conserved Domain (NCBI)KMT2C
DMDM Disease mutations58508
Blocks (Seattle)KMT2C
PDB (SRS)2YSM    2YUK    3UVL    4ERY   
PDB (PDBSum)2YSM    2YUK    3UVL    4ERY   
PDB (IMB)2YSM    2YUK    3UVL    4ERY   
PDB (RSDB)2YSM    2YUK    3UVL    4ERY   
Structural Biology KnowledgeBase2YSM    2YUK    3UVL    4ERY   
SCOP (Structural Classification of Proteins)2YSM    2YUK    3UVL    4ERY   
CATH (Classification of proteins structures)2YSM    2YUK    3UVL    4ERY   
SuperfamilyQ8NEZ4
Human Protein AtlasENSG00000055609
Peptide AtlasQ8NEZ4
HPRD06016
IPIIPI00927656   IPI00926361   
Protein Interaction databases
DIP (DOE-UCLA)Q8NEZ4
IntAct (EBI)Q8NEZ4
FunCoupENSG00000055609
BioGRIDKMT2C
STRING (EMBL)KMT2C
ZODIACKMT2C
Ontologies - Pathways
QuickGOQ8NEZ4
Ontology : AmiGODNA binding  protein binding  nucleus  nucleoplasm  transcription, DNA-templated  regulation of transcription, DNA-templated  zinc ion binding  histone-lysine N-methyltransferase activity  histone lysine methylation  histone methyltransferase complex  histone methyltransferase activity (H3-K4 specific)  MLL3/4 complex  poly(A) RNA binding  histone H3-K4 methylation  
Ontology : EGO-EBIDNA binding  protein binding  nucleus  nucleoplasm  transcription, DNA-templated  regulation of transcription, DNA-templated  zinc ion binding  histone-lysine N-methyltransferase activity  histone lysine methylation  histone methyltransferase complex  histone methyltransferase activity (H3-K4 specific)  MLL3/4 complex  poly(A) RNA binding  histone H3-K4 methylation  
Pathways : KEGGLysine degradation   
NDEx NetworkKMT2C
Atlas of Cancer Signalling NetworkKMT2C
Wikipedia pathwaysKMT2C
Orthology - Evolution
OrthoDB58508
GeneTree (enSembl)ENSG00000055609
Phylogenetic Trees/Animal Genes : TreeFamKMT2C
HOVERGENQ8NEZ4
HOGENOMQ8NEZ4
Homologs : HomoloGeneKMT2C
Homology/Alignments : Family Browser (UCSC)KMT2C
Gene fusions - Rearrangements
Fusion : MitelmanKMT2C/ACTR3B [7q36.1/7q36.1]  
Fusion : MitelmanKMT2C/CALN1 [7q36.1/7q11.22]  [t(7;7)(q11;q36)]  
Fusion : MitelmanKMT2C/CLIP2 [7q36.1/7q11.23]  [t(7;7)(q11;q36)]  
Fusion : MitelmanKMT2C/CNTNAP2 [7q36.1/7q35]  [t(7;7)(q35;q36)]  
Fusion : MitelmanKMT2C/GALNTL5 [7q36.1/7q36.1]  [t(7;7)(q36;q36)]  
Fusion : MitelmanKMT2C/GTF2IRD1 [7q36.1/7q11.23]  [t(7;7)(q11;q36)]  
Fusion : MitelmanKMT2C/SYTL5 [7q36.1/Xp11.4]  [t(X;7)(p11;q36)]  
Fusion : MitelmanKMT2C/XRCC2 [7q36.1/7q36.1]  [t(7;7)(q36;q36)]  
Fusion : MitelmanPRKAG2/KMT2C [7q36.1/7q36.1]  [t(7;7)(q36;q36)]  
Fusion : MitelmanRBM28/KMT2C [7q32.1/7q36.1]  [t(7;7)(q32;q36)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKMT2C [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KMT2C
dbVarKMT2C
ClinVarKMT2C
1000_GenomesKMT2C 
Exome Variant ServerKMT2C
ExAC (Exome Aggregation Consortium)KMT2C (select the gene name)
Genetic variants : HAPMAP58508
Genomic Variants (DGV)KMT2C [DGVbeta]
DECIPHER (Syndromes)7:151832010-152133090  ENSG00000055609
CONAN: Copy Number AnalysisKMT2C 
Mutations
ICGC Data PortalKMT2C 
TCGA Data PortalKMT2C 
Broad Tumor PortalKMT2C
OASIS PortalKMT2C [ Somatic mutations - Copy number]
Cancer Gene: CensusKMT2C 
Somatic Mutations in Cancer : COSMICKMT2C  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKMT2C
intOGen PortalMLL3
BioMutasearch KMT2C
DgiDB (Drug Gene Interaction Database)KMT2C
DoCM (Curated mutations)KMT2C (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KMT2C (select a term)
intoGenKMT2C
Cancer3DKMT2C(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606833   
Orphanet
MedgenKMT2C
Genetic Testing Registry KMT2C
NextProtQ8NEZ4 [Medical]
TSGene58508
GENETestsKMT2C
Huge Navigator KMT2C [HugePedia]
snp3D : Map Gene to Disease58508
BioCentury BCIQKMT2C
ClinGenKMT2C
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD58508
Chemical/Pharm GKB GenePA30847
Clinical trialKMT2C
Miscellaneous
canSAR (ICR)KMT2C (select the gene name)
Probes
Litterature
PubMed64 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKMT2C
EVEXKMT2C
GoPubMedKMT2C
iHOPKMT2C
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:12:11 CET 2017

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