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L3MBTL2 (L3MBTL2 polycomb repressive complex 1 subunit)

Identity

Alias_namesl(3)mbt-like 2 (Drosophila)
Alias_symbol (synonym)H-l(3)mbt-l
DKFZP761I141
dJ756G23.3
Other aliasL3MBT
HGNC (Hugo) L3MBTL2
LocusID (NCBI) 83746
Atlas_Id 65153
Location 22q13.2  [Link to chromosome band 22q13]
Location_base_pair Starts at 41205309 and ends at 41231271 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
BCOR (Xp11.4) / L3MBTL2 (22q13.2)L3MBTL2 (22q13.2) / PEG10 (7q21.3)RANGAP1 (22q13.2) / L3MBTL2 (22q13.2)
ZC3H7B (22q13.2) / L3MBTL2 (22q13.2)ZC3H7B L3MBTL2BCOR L3MBTL2

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)L3MBTL2   18594
Cards
Entrez_Gene (NCBI)L3MBTL2  83746  L3MBTL2 polycomb repressive complex 1 subunit
AliasesH-l(3)mbt-l; L3MBT
GeneCards (Weizmann)L3MBTL2
Ensembl hg19 (Hinxton)ENSG00000100395 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100395 [Gene_View]  chr22:41205309-41231271 [Contig_View]  L3MBTL2 [Vega]
ICGC DataPortalENSG00000100395
TCGA cBioPortalL3MBTL2
AceView (NCBI)L3MBTL2
Genatlas (Paris)L3MBTL2
WikiGenes83746
SOURCE (Princeton)L3MBTL2
Genetics Home Reference (NIH)L3MBTL2
Genomic and cartography
GoldenPath hg38 (UCSC)L3MBTL2  -     chr22:41205309-41231271 +  22q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)L3MBTL2  -     22q13.2   [Description]    (hg19-Feb_2009)
EnsemblL3MBTL2 - 22q13.2 [CytoView hg19]  L3MBTL2 - 22q13.2 [CytoView hg38]
Mapping of homologs : NCBIL3MBTL2 [Mapview hg19]  L3MBTL2 [Mapview hg38]
OMIM611865   
Gene and transcription
Genbank (Entrez)AJ305226 AJ305227 AK056443 AK074091 AK097052
RefSeq transcript (Entrez)NM_001003689 NM_031488
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)L3MBTL2
Cluster EST : UnigeneHs.517641 [ NCBI ]
CGAP (NCI)Hs.517641
Alternative Splicing GalleryENSG00000100395
Gene ExpressionL3MBTL2 [ NCBI-GEO ]   L3MBTL2 [ EBI - ARRAY_EXPRESS ]   L3MBTL2 [ SEEK ]   L3MBTL2 [ MEM ]
Gene Expression Viewer (FireBrowse)L3MBTL2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)83746
GTEX Portal (Tissue expression)L3MBTL2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ969R5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ969R5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ969R5
Splice isoforms : SwissVarQ969R5
PhosPhoSitePlusQ969R5
Domaine pattern : Prosite (Expaxy)MBT (PS51079)    ZF_FCS (PS51024)   
Domains : Interpro (EBI)Mbt    Znf_FCS   
Domain families : Pfam (Sanger)MBT (PF02820)   
Domain families : Pfam (NCBI)pfam02820   
Domain families : Smart (EMBL)MBT (SM00561)  
Conserved Domain (NCBI)L3MBTL2
DMDM Disease mutations83746
Blocks (Seattle)L3MBTL2
PDB (SRS)2W0T    3CEY    3F70   
PDB (PDBSum)2W0T    3CEY    3F70   
PDB (IMB)2W0T    3CEY    3F70   
PDB (RSDB)2W0T    3CEY    3F70   
Structural Biology KnowledgeBase2W0T    3CEY    3F70   
SCOP (Structural Classification of Proteins)2W0T    3CEY    3F70   
CATH (Classification of proteins structures)2W0T    3CEY    3F70   
SuperfamilyQ969R5
Human Protein AtlasENSG00000100395
Peptide AtlasQ969R5
HPRD13954
IPIIPI00100041   IPI00219058   IPI00302544   IPI00878445   IPI00877951   IPI00878764   
Protein Interaction databases
DIP (DOE-UCLA)Q969R5
IntAct (EBI)Q969R5
FunCoupENSG00000100395
BioGRIDL3MBTL2
STRING (EMBL)L3MBTL2
ZODIACL3MBTL2
Ontologies - Pathways
QuickGOQ969R5
Ontology : AmiGOprotein binding  nucleus  nucleoplasm  transcription, DNA-templated  regulation of transcription, DNA-templated  zinc ion binding  covalent chromatin modification  protein sumoylation  methylated histone binding  histone binding  
Ontology : EGO-EBIprotein binding  nucleus  nucleoplasm  transcription, DNA-templated  regulation of transcription, DNA-templated  zinc ion binding  covalent chromatin modification  protein sumoylation  methylated histone binding  histone binding  
NDEx NetworkL3MBTL2
Atlas of Cancer Signalling NetworkL3MBTL2
Wikipedia pathwaysL3MBTL2
Orthology - Evolution
OrthoDB83746
GeneTree (enSembl)ENSG00000100395
Phylogenetic Trees/Animal Genes : TreeFamL3MBTL2
HOVERGENQ969R5
HOGENOMQ969R5
Homologs : HomoloGeneL3MBTL2
Homology/Alignments : Family Browser (UCSC)L3MBTL2
Gene fusions - Rearrangements
Fusion: TCGAZC3H7B L3MBTL2
Fusion: TCGABCOR L3MBTL2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerL3MBTL2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)L3MBTL2
dbVarL3MBTL2
ClinVarL3MBTL2
1000_GenomesL3MBTL2 
Exome Variant ServerL3MBTL2
ExAC (Exome Aggregation Consortium)L3MBTL2 (select the gene name)
Genetic variants : HAPMAP83746
Genomic Variants (DGV)L3MBTL2 [DGVbeta]
DECIPHERL3MBTL2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisL3MBTL2 
Mutations
ICGC Data PortalL3MBTL2 
TCGA Data PortalL3MBTL2 
Broad Tumor PortalL3MBTL2
OASIS PortalL3MBTL2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICL3MBTL2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDL3MBTL2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch L3MBTL2
DgiDB (Drug Gene Interaction Database)L3MBTL2
DoCM (Curated mutations)L3MBTL2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)L3MBTL2 (select a term)
intoGenL3MBTL2
Cancer3DL3MBTL2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611865   
Orphanet
MedgenL3MBTL2
Genetic Testing Registry L3MBTL2
NextProtQ969R5 [Medical]
TSGene83746
GENETestsL3MBTL2
Target ValidationL3MBTL2
Huge Navigator L3MBTL2 [HugePedia]
snp3D : Map Gene to Disease83746
BioCentury BCIQL3MBTL2
ClinGenL3MBTL2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD83746
Chemical/Pharm GKB GenePA38356
Clinical trialL3MBTL2
Miscellaneous
canSAR (ICR)L3MBTL2 (select the gene name)
Probes
Litterature
PubMed34 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineL3MBTL2
EVEXL3MBTL2
GoPubMedL3MBTL2
iHOPL3MBTL2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:12:28 CEST 2017

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