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MAD2L1BP (MAD2L1 binding protein)

Identity

Alias_symbol (synonym)CMT2
KIAA0110
dJ261G23.1
Other alias
HGNC (Hugo) MAD2L1BP
LocusID (NCBI) 9587
Atlas_Id 49962
Location 6p21.1  [Link to chromosome band 6p21]
Location_base_pair Starts at 43635840 and ends at 43640951 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

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)MAD2L1BP   21059
Cards
Entrez_Gene (NCBI)MAD2L1BP  9587  MAD2L1 binding protein
AliasesCMT2
GeneCards (Weizmann)MAD2L1BP
Ensembl hg19 (Hinxton)ENSG00000124688 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000124688 [Gene_View]  ENSG00000124688 [Sequence]  chr6:43635840-43640951 [Contig_View]  MAD2L1BP [Vega]
ICGC DataPortalENSG00000124688
TCGA cBioPortalMAD2L1BP
AceView (NCBI)MAD2L1BP
Genatlas (Paris)MAD2L1BP
WikiGenes9587
SOURCE (Princeton)MAD2L1BP
Genetics Home Reference (NIH)MAD2L1BP
Genomic and cartography
GoldenPath hg38 (UCSC)MAD2L1BP  -     chr6:43635840-43640951 +  6p21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MAD2L1BP  -     6p21.1   [Description]    (hg19-Feb_2009)
EnsemblMAD2L1BP - 6p21.1 [CytoView hg19]  MAD2L1BP - 6p21.1 [CytoView hg38]
Mapping of homologs : NCBIMAD2L1BP [Mapview hg19]  MAD2L1BP [Mapview hg38]
OMIM618136   
Gene and transcription
Genbank (Entrez)AA883912 AK297172 AL537692 BC002904 BE297042
RefSeq transcript (Entrez)NM_001003690 NM_014628
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MAD2L1BP
Cluster EST : UnigeneHs.715485 [ NCBI ]
CGAP (NCI)Hs.715485
Alternative Splicing GalleryENSG00000124688
Gene ExpressionMAD2L1BP [ NCBI-GEO ]   MAD2L1BP [ EBI - ARRAY_EXPRESS ]   MAD2L1BP [ SEEK ]   MAD2L1BP [ MEM ]
Gene Expression Viewer (FireBrowse)MAD2L1BP [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9587
GTEX Portal (Tissue expression)MAD2L1BP
Human Protein AtlasENSG00000124688-MAD2L1BP [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15013   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15013  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15013
Splice isoforms : SwissVarQ15013
PhosPhoSitePlusQ15013
Domains : Interpro (EBI)MAD1/Cdc20-bound-Mad2-bd   
Domain families : Pfam (Sanger)p31comet (PF06581)   
Domain families : Pfam (NCBI)pfam06581   
Conserved Domain (NCBI)MAD2L1BP
DMDM Disease mutations9587
Blocks (Seattle)MAD2L1BP
PDB (SRS)2QYF   
PDB (PDBSum)2QYF   
PDB (IMB)2QYF   
PDB (RSDB)2QYF   
Structural Biology KnowledgeBase2QYF   
SCOP (Structural Classification of Proteins)2QYF   
CATH (Classification of proteins structures)2QYF   
SuperfamilyQ15013
Human Protein Atlas [tissue]ENSG00000124688-MAD2L1BP [tissue]
Peptide AtlasQ15013
HPRD10065
IPIIPI00014173   IPI00455983   
Protein Interaction databases
DIP (DOE-UCLA)Q15013
IntAct (EBI)Q15013
FunCoupENSG00000124688
BioGRIDMAD2L1BP
STRING (EMBL)MAD2L1BP
ZODIACMAD2L1BP
Ontologies - Pathways
QuickGOQ15013
Ontology : AmiGOprotein binding  nucleus  nucleolus  cytoplasm  spindle  mitotic cell cycle checkpoint  regulation of exit from mitosis  nuclear membrane  
Ontology : EGO-EBIprotein binding  nucleus  nucleolus  cytoplasm  spindle  mitotic cell cycle checkpoint  regulation of exit from mitosis  nuclear membrane  
NDEx NetworkMAD2L1BP
Atlas of Cancer Signalling NetworkMAD2L1BP
Wikipedia pathwaysMAD2L1BP
Orthology - Evolution
OrthoDB9587
GeneTree (enSembl)ENSG00000124688
Phylogenetic Trees/Animal Genes : TreeFamMAD2L1BP
HOVERGENQ15013
HOGENOMQ15013
Homologs : HomoloGeneMAD2L1BP
Homology/Alignments : Family Browser (UCSC)MAD2L1BP
Gene fusions - Rearrangements
Fusion : QuiverMAD2L1BP
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMAD2L1BP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MAD2L1BP
dbVarMAD2L1BP
ClinVarMAD2L1BP
1000_GenomesMAD2L1BP 
Exome Variant ServerMAD2L1BP
ExAC (Exome Aggregation Consortium)ENSG00000124688
GNOMAD BrowserENSG00000124688
Varsome BrowserMAD2L1BP
Genetic variants : HAPMAP9587
Genomic Variants (DGV)MAD2L1BP [DGVbeta]
DECIPHERMAD2L1BP [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMAD2L1BP 
Mutations
ICGC Data PortalMAD2L1BP 
TCGA Data PortalMAD2L1BP 
Broad Tumor PortalMAD2L1BP
OASIS PortalMAD2L1BP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMAD2L1BP  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMAD2L1BP
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MAD2L1BP
DgiDB (Drug Gene Interaction Database)MAD2L1BP
DoCM (Curated mutations)MAD2L1BP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MAD2L1BP (select a term)
intoGenMAD2L1BP
Cancer3DMAD2L1BP(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM618136   
Orphanet
DisGeNETMAD2L1BP
MedgenMAD2L1BP
Genetic Testing Registry MAD2L1BP
NextProtQ15013 [Medical]
TSGene9587
GENETestsMAD2L1BP
Target ValidationMAD2L1BP
Huge Navigator MAD2L1BP [HugePedia]
snp3D : Map Gene to Disease9587
BioCentury BCIQMAD2L1BP
ClinGenMAD2L1BP
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9587
Chemical/Pharm GKB GenePA134911020
Clinical trialMAD2L1BP
Miscellaneous
canSAR (ICR)MAD2L1BP (select the gene name)
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMAD2L1BP
EVEXMAD2L1BP
GoPubMedMAD2L1BP
iHOPMAD2L1BP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 6 11:18:20 CET 2018

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