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MBNL2 (muscleblind-like splicing regulator 2)

Identity

Alias_namesmuscleblind-like 2 (Drosophila)
muscleblind-like splicing regulator 2
Alias_symbol (synonym)MBLL
MBLL39
Other aliasPRO2032
HGNC (Hugo) MBNL2
LocusID (NCBI) 10150
Atlas_Id 68833
Location 13q32.1  [Link to chromosome band 13q32]
Location_base_pair Starts at 97874543 and ends at 98046374 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
COPS7B (2q37.1) / MBNL2 (13q32.1)MBNL2 (13q32.1) / MBNL2 (13q32.1)MBNL2 (13q32.1) / PLP1 (Xq22.2)
MBNL2 (13q32.1) / SCG2 (2q36.1)PCCA (13q32.3) / MBNL2 (13q32.1)

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)MBNL2   16746
Cards
Entrez_Gene (NCBI)MBNL2  10150  muscleblind-like splicing regulator 2
AliasesMBLL; MBLL39; PRO2032
GeneCards (Weizmann)MBNL2
Ensembl hg19 (Hinxton)ENSG00000139793 [Gene_View]  chr13:97874543-98046374 [Contig_View]  MBNL2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000139793 [Gene_View]  chr13:97874543-98046374 [Contig_View]  MBNL2 [Vega]
ICGC DataPortalENSG00000139793
TCGA cBioPortalMBNL2
AceView (NCBI)MBNL2
Genatlas (Paris)MBNL2
WikiGenes10150
SOURCE (Princeton)MBNL2
Genetics Home Reference (NIH)MBNL2
Genomic and cartography
GoldenPath hg19 (UCSC)MBNL2  -     chr13:97874543-98046374 +  13q32.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MBNL2  -     13q32.1   [Description]    (hg38-Dec_2013)
EnsemblMBNL2 - 13q32.1 [CytoView hg19]  MBNL2 - 13q32.1 [CytoView hg38]
Mapping of homologs : NCBIMBNL2 [Mapview hg19]  MBNL2 [Mapview hg38]
OMIM607327   
Gene and transcription
Genbank (Entrez)AF061261 AF116683 AF339782 AF339832 AF491866
RefSeq transcript (Entrez)NM_001306070 NM_144778 NM_207304
RefSeq genomic (Entrez)NC_000013 NC_018924 NT_009952 NW_004929389
Consensus coding sequences : CCDS (NCBI)MBNL2
Cluster EST : UnigeneHs.657347 [ NCBI ]
CGAP (NCI)Hs.657347
Alternative Splicing GalleryENSG00000139793
Gene ExpressionMBNL2 [ NCBI-GEO ]   MBNL2 [ EBI - ARRAY_EXPRESS ]   MBNL2 [ SEEK ]   MBNL2 [ MEM ]
Gene Expression Viewer (FireBrowse)MBNL2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10150
GTEX Portal (Tissue expression)MBNL2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5VZF2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5VZF2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5VZF2
Splice isoforms : SwissVarQ5VZF2
PhosPhoSitePlusQ5VZF2
Domaine pattern : Prosite (Expaxy)ZF_C3H1 (PS50103)   
Domains : Interpro (EBI)Znf_CCCH   
Domain families : Pfam (Sanger)zf-CCCH (PF00642)   
Domain families : Pfam (NCBI)pfam00642   
Domain families : Smart (EMBL)ZnF_C3H1 (SM00356)  
Conserved Domain (NCBI)MBNL2
DMDM Disease mutations10150
Blocks (Seattle)MBNL2
PDB (SRS)2E5S    2RPP   
PDB (PDBSum)2E5S    2RPP   
PDB (IMB)2E5S    2RPP   
PDB (RSDB)2E5S    2RPP   
Structural Biology KnowledgeBase2E5S    2RPP   
SCOP (Structural Classification of Proteins)2E5S    2RPP   
CATH (Classification of proteins structures)2E5S    2RPP   
SuperfamilyQ5VZF2
Human Protein AtlasENSG00000139793
Peptide AtlasQ5VZF2
HPRD09543
IPIIPI00410608   IPI00183078   IPI00744083   IPI00943293   IPI00553128   IPI00746170   
Protein Interaction databases
DIP (DOE-UCLA)Q5VZF2
IntAct (EBI)Q5VZF2
FunCoupENSG00000139793
BioGRIDMBNL2
STRING (EMBL)MBNL2
ZODIACMBNL2
Ontologies - Pathways
QuickGOQ5VZF2
Ontology : AmiGOregulation of alternative mRNA splicing, via spliceosome  nucleus  cytoplasm  mRNA processing  RNA splicing  regulation of RNA splicing  poly(A) RNA binding  metal ion binding  
Ontology : EGO-EBIregulation of alternative mRNA splicing, via spliceosome  nucleus  cytoplasm  mRNA processing  RNA splicing  regulation of RNA splicing  poly(A) RNA binding  metal ion binding  
NDEx NetworkMBNL2
Atlas of Cancer Signalling NetworkMBNL2
Wikipedia pathwaysMBNL2
Orthology - Evolution
OrthoDB10150
GeneTree (enSembl)ENSG00000139793
Phylogenetic Trees/Animal Genes : TreeFamMBNL2
HOVERGENQ5VZF2
HOGENOMQ5VZF2
Homologs : HomoloGeneMBNL2
Homology/Alignments : Family Browser (UCSC)MBNL2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMBNL2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MBNL2
dbVarMBNL2
ClinVarMBNL2
1000_GenomesMBNL2 
Exome Variant ServerMBNL2
ExAC (Exome Aggregation Consortium)MBNL2 (select the gene name)
Genetic variants : HAPMAP10150
Genomic Variants (DGV)MBNL2 [DGVbeta]
DECIPHER (Syndromes)13:97874543-98046374  ENSG00000139793
CONAN: Copy Number AnalysisMBNL2 
Mutations
ICGC Data PortalMBNL2 
TCGA Data PortalMBNL2 
Broad Tumor PortalMBNL2
OASIS PortalMBNL2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMBNL2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMBNL2
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 MBNL2
DgiDB (Drug Gene Interaction Database)MBNL2
DoCM (Curated mutations)MBNL2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MBNL2 (select a term)
intoGenMBNL2
Cancer3DMBNL2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607327   
Orphanet
MedgenMBNL2
Genetic Testing Registry MBNL2
NextProtQ5VZF2 [Medical]
TSGene10150
GENETestsMBNL2
Huge Navigator MBNL2 [HugePedia]
snp3D : Map Gene to Disease10150
BioCentury BCIQMBNL2
ClinGenMBNL2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10150
Chemical/Pharm GKB GenePA134901420
Clinical trialMBNL2
Miscellaneous
canSAR (ICR)MBNL2 (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMBNL2
EVEXMBNL2
GoPubMedMBNL2
iHOPMBNL2
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 12:27:48 CET 2017

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