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MAD2L2 (mitotic arrest deficient 2 like 2)

Identity

Alias_namesMAD2 (mitotic arrest deficient
Alias_symbol (synonym)MAD2B
REV7
POLZ2
Other aliasFANCV
HGNC (Hugo) MAD2L2
LocusID (NCBI) 10459
Atlas_Id 333
Location 1p36.22  [Link to chromosome band 1p36]
Location_base_pair Starts at 11674480 and ends at 11691621 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ERBB2 (17q12) / MAD2L2 (1p36.22)MAD2L2 (1p36.22) / LOC100507412 (-)MAD2L2 (1p36.22) / PRCC (1q23.1)
SPATA6 (1p33) / MAD2L2 (1p36.22)SPATA6 1p33 / MAD2L2 1p36.22

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)MAD2L2   6764
Cards
Entrez_Gene (NCBI)MAD2L2  10459  mitotic arrest deficient 2 like 2
AliasesFANCV; MAD2B; POLZ2; REV7
GeneCards (Weizmann)MAD2L2
Ensembl hg19 (Hinxton)ENSG00000116670 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000116670 [Gene_View]  chr1:11674480-11691621 [Contig_View]  MAD2L2 [Vega]
ICGC DataPortalENSG00000116670
TCGA cBioPortalMAD2L2
AceView (NCBI)MAD2L2
Genatlas (Paris)MAD2L2
WikiGenes10459
SOURCE (Princeton)MAD2L2
Genetics Home Reference (NIH)MAD2L2
Genomic and cartography
GoldenPath hg38 (UCSC)MAD2L2  -     chr1:11674480-11691621 -  1p36.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MAD2L2  -     1p36.22   [Description]    (hg19-Feb_2009)
EnsemblMAD2L2 - 1p36.22 [CytoView hg19]  MAD2L2 - 1p36.22 [CytoView hg38]
Mapping of homologs : NCBIMAD2L2 [Mapview hg19]  MAD2L2 [Mapview hg38]
OMIM604094   617243   
Gene and transcription
Genbank (Entrez)AF072933 AF080398 AF139365 AF157482 AK027327
RefSeq transcript (Entrez)NM_001127325 NM_006341
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MAD2L2
Cluster EST : UnigeneHs.19400 [ NCBI ]
CGAP (NCI)Hs.19400
Alternative Splicing GalleryENSG00000116670
Gene ExpressionMAD2L2 [ NCBI-GEO ]   MAD2L2 [ EBI - ARRAY_EXPRESS ]   MAD2L2 [ SEEK ]   MAD2L2 [ MEM ]
Gene Expression Viewer (FireBrowse)MAD2L2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10459
GTEX Portal (Tissue expression)MAD2L2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UI95   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UI95  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UI95
Splice isoforms : SwissVarQ9UI95
PhosPhoSitePlusQ9UI95
Domaine pattern : Prosite (Expaxy)HORMA (PS50815)   
Domains : Interpro (EBI)HORMA_dom   
Domain families : Pfam (Sanger)HORMA (PF02301)   
Domain families : Pfam (NCBI)pfam02301   
Conserved Domain (NCBI)MAD2L2
DMDM Disease mutations10459
Blocks (Seattle)MAD2L2
PDB (SRS)3ABD    3ABE    3VU7    4EXT    4GK0    4GK5   
PDB (PDBSum)3ABD    3ABE    3VU7    4EXT    4GK0    4GK5   
PDB (IMB)3ABD    3ABE    3VU7    4EXT    4GK0    4GK5   
PDB (RSDB)3ABD    3ABE    3VU7    4EXT    4GK0    4GK5   
Structural Biology KnowledgeBase3ABD    3ABE    3VU7    4EXT    4GK0    4GK5   
SCOP (Structural Classification of Proteins)3ABD    3ABE    3VU7    4EXT    4GK0    4GK5   
CATH (Classification of proteins structures)3ABD    3ABE    3VU7    4EXT    4GK0    4GK5   
SuperfamilyQ9UI95
Human Protein AtlasENSG00000116670
Peptide AtlasQ9UI95
HPRD07246
IPIIPI00006109   IPI00645963   IPI00515010   IPI00645006   IPI00514036   IPI00514482   
Protein Interaction databases
DIP (DOE-UCLA)Q9UI95
IntAct (EBI)Q9UI95
FunCoupENSG00000116670
BioGRIDMAD2L2
STRING (EMBL)MAD2L2
ZODIACMAD2L2
Ontologies - Pathways
QuickGOQ9UI95
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II activating transcription factor binding  regulation of cell growth  protein binding  nucleus  nucleoplasm  anaphase-promoting complex  nucleolus  spindle  cytosol  double-strand break repair  transcription, DNA-templated  actin filament organization  mitotic spindle assembly checkpoint  JUN kinase binding  negative regulation of epithelial to mesenchymal transition  negative regulation of transcription by competitive promoter binding  zeta DNA polymerase complex  positive regulation of peptidyl-serine phosphorylation  negative regulation of protein catabolic process  error-prone translesion synthesis  DNA damage response, signal transduction resulting in transcription  negative regulation of sequence-specific DNA binding transcription factor activity  positive regulation of transcription, DNA-templated  cell division  negative regulation of canonical Wnt signaling pathway  negative regulation of ubiquitin protein ligase activity  negative regulation of cell-cell adhesion mediated by cadherin  negative regulation of transcription regulatory region DNA binding  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II activating transcription factor binding  regulation of cell growth  protein binding  nucleus  nucleoplasm  anaphase-promoting complex  nucleolus  spindle  cytosol  double-strand break repair  transcription, DNA-templated  actin filament organization  mitotic spindle assembly checkpoint  JUN kinase binding  negative regulation of epithelial to mesenchymal transition  negative regulation of transcription by competitive promoter binding  zeta DNA polymerase complex  positive regulation of peptidyl-serine phosphorylation  negative regulation of protein catabolic process  error-prone translesion synthesis  DNA damage response, signal transduction resulting in transcription  negative regulation of sequence-specific DNA binding transcription factor activity  positive regulation of transcription, DNA-templated  cell division  negative regulation of canonical Wnt signaling pathway  negative regulation of ubiquitin protein ligase activity  negative regulation of cell-cell adhesion mediated by cadherin  negative regulation of transcription regulatory region DNA binding  
Pathways : KEGGCell cycle    Oocyte meiosis    Progesterone-mediated oocyte maturation    Bacterial invasion of epithelial cells    Shigellosis   
NDEx NetworkMAD2L2
Atlas of Cancer Signalling NetworkMAD2L2
Wikipedia pathwaysMAD2L2
Orthology - Evolution
OrthoDB10459
GeneTree (enSembl)ENSG00000116670
Phylogenetic Trees/Animal Genes : TreeFamMAD2L2
HOVERGENQ9UI95
HOGENOMQ9UI95
Homologs : HomoloGeneMAD2L2
Homology/Alignments : Family Browser (UCSC)MAD2L2
Gene fusions - Rearrangements
Fusion : MitelmanSPATA6/MAD2L2 [1p33/1p36.22]  [t(1;1)(p33;p36)]  
Fusion: TCGASPATA6 1p33 MAD2L2 1p36.22 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMAD2L2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MAD2L2
dbVarMAD2L2
ClinVarMAD2L2
1000_GenomesMAD2L2 
Exome Variant ServerMAD2L2
ExAC (Exome Aggregation Consortium)MAD2L2 (select the gene name)
Genetic variants : HAPMAP10459
Genomic Variants (DGV)MAD2L2 [DGVbeta]
DECIPHERMAD2L2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMAD2L2 
Mutations
ICGC Data PortalMAD2L2 
TCGA Data PortalMAD2L2 
Broad Tumor PortalMAD2L2
OASIS PortalMAD2L2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMAD2L2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMAD2L2
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 MAD2L2
DgiDB (Drug Gene Interaction Database)MAD2L2
DoCM (Curated mutations)MAD2L2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MAD2L2 (select a term)
intoGenMAD2L2
Cancer3DMAD2L2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604094    617243   
Orphanet
MedgenMAD2L2
Genetic Testing Registry MAD2L2
NextProtQ9UI95 [Medical]
TSGene10459
GENETestsMAD2L2
Target ValidationMAD2L2
Huge Navigator MAD2L2 [HugePedia]
snp3D : Map Gene to Disease10459
BioCentury BCIQMAD2L2
ClinGenMAD2L2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10459
Chemical/Pharm GKB GenePA398
Clinical trialMAD2L2
Miscellaneous
canSAR (ICR)MAD2L2 (select the gene name)
Probes
Litterature
PubMed63 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMAD2L2
EVEXMAD2L2
GoPubMedMAD2L2
iHOPMAD2L2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:41:52 CEST 2017

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