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MAD2L1BP (MAD2L1 binding protein)

Identity

Alias (NCBI)CMT2
HGNC (Hugo) MAD2L1BP
HGNC Alias symbCMT2
KIAA0110
dJ261G23.1
LocusID (NCBI) 9587
Atlas_Id 49962
Location 6p21.1  [Link to chromosome band 6p21]
Location_base_pair Starts at 43635840 and ends at 43640941 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    MAD2L1 binding protein
AliasesCMT2
GeneCards (Weizmann)MAD2L1BP
Ensembl hg19 (Hinxton)ENSG00000124688 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000124688 [Gene_View]  ENSG00000124688 [Sequence]  chr6:43635840-43640941 [Contig_View]  MAD2L1BP [Vega]
ICGC DataPortalENSG00000124688
TCGA cBioPortalMAD2L1BP
AceView (NCBI)MAD2L1BP
Genatlas (Paris)MAD2L1BP
SOURCE (Princeton)MAD2L1BP
Genetics Home Reference (NIH)MAD2L1BP
Genomic and cartography
GoldenPath hg38 (UCSC)MAD2L1BP  -     chr6:43635840-43640941 +  6p21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MAD2L1BP  -     6p21.1   [Description]    (hg19-Feb_2009)
GoldenPathMAD2L1BP - 6p21.1 [CytoView hg19]  MAD2L1BP - 6p21.1 [CytoView hg38]
ImmunoBaseENSG00000124688
Genome Data Viewer NCBIMAD2L1BP [Mapview hg19]  
OMIM618136   
Gene and transcription
Genbank (Entrez)AA883912 AK297172 AL537692 BC002904 BE297042
RefSeq transcript (Entrez)NM_001003690 NM_014628
Consensus coding sequences : CCDS (NCBI)MAD2L1BP
Gene ExpressionMAD2L1BP [ NCBI-GEO ]   MAD2L1BP [ EBI - ARRAY_EXPRESS ]   MAD2L1BP [ SEEK ]   MAD2L1BP [ MEM ]
Gene Expression Viewer (FireBrowse)MAD2L1BP [ Firebrowse - Broad ]
GenevisibleExpression of MAD2L1BP 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
PhosPhoSitePlusQ15013
Domains : Interpro (EBI)MAD1/Cdc20-bound-Mad2-bd   
Domain families : Pfam (Sanger)p31comet (PF06581)   
Domain families : Pfam (NCBI)pfam06581   
Conserved Domain (NCBI)MAD2L1BP
PDB (RSDB)2QYF    6F0X   
PDB Europe2QYF    6F0X   
PDB (PDBSum)2QYF    6F0X   
PDB (IMB)2QYF    6F0X   
Structural Biology KnowledgeBase2QYF    6F0X   
SCOP (Structural Classification of Proteins)2QYF    6F0X   
CATH (Classification of proteins structures)2QYF    6F0X   
SuperfamilyQ15013
AlphaFold pdb e-kbQ15013   
Human Protein Atlas [tissue]ENSG00000124688-MAD2L1BP [tissue]
HPRD10065
Protein Interaction databases
DIP (DOE-UCLA)Q15013
IntAct (EBI)Q15013
BioGRIDMAD2L1BP
STRING (EMBL)MAD2L1BP
ZODIACMAD2L1BP
Ontologies - Pathways
QuickGOQ15013
Ontology : AmiGOprotein binding  nucleus  nucleus  nucleoplasm  nucleolus  cytoplasm  spindle  regulation of exit from mitosis  nuclear membrane  deactivation of mitotic spindle assembly checkpoint  
Ontology : EGO-EBIprotein binding  nucleus  nucleus  nucleoplasm  nucleolus  cytoplasm  spindle  regulation of exit from mitosis  nuclear membrane  deactivation of mitotic spindle assembly checkpoint  
NDEx NetworkMAD2L1BP
Atlas of Cancer Signalling NetworkMAD2L1BP
Wikipedia pathwaysMAD2L1BP
Orthology - Evolution
OrthoDB9587
GeneTree (enSembl)ENSG00000124688
Phylogenetic Trees/Animal Genes : TreeFamMAD2L1BP
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
MonarchMAD2L1BP
1000_GenomesMAD2L1BP 
Exome Variant ServerMAD2L1BP
GNOMAD BrowserENSG00000124688
Varsome BrowserMAD2L1BP
ACMGMAD2L1BP variants
VarityQ15013
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]  
Somatic Mutations in Cancer : COSMIC3DMAD2L1BP
Mutations and Diseases : HGMDMAD2L1BP
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaMAD2L1BP
DgiDB (Drug Gene Interaction Database)MAD2L1BP
DoCM (Curated mutations)MAD2L1BP
CIViC (Clinical Interpretations of Variants in Cancer)MAD2L1BP
Cancer3DMAD2L1BP
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM618136   
Orphanet
DisGeNETMAD2L1BP
MedgenMAD2L1BP
Genetic Testing Registry MAD2L1BP
NextProtQ15013 [Medical]
GENETestsMAD2L1BP
Target ValidationMAD2L1BP
Huge Navigator MAD2L1BP [HugePedia]
ClinGenMAD2L1BP
Clinical trials, drugs, therapy
MyCancerGenomeMAD2L1BP
Protein Interactions : CTDMAD2L1BP
Pharm GKB GenePA134911020
PharosQ15013
Clinical trialMAD2L1BP
Miscellaneous
canSAR (ICR)MAD2L1BP
HarmonizomeMAD2L1BP
DataMed IndexMAD2L1BP
Probes
Litterature
PubMed58 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXMAD2L1BP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:17:24 CEST 2021

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