Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

MAD2L2 (mitotic arrest deficient 2 like 2)

Identity

Alias (NCBI)FANCV
MAD2B
POLZ2
REV7
HGNC (Hugo) MAD2L2
HGNC Alias symbMAD2B
REV7
POLZ2
FANCV
HGNC Alias namemitotic arrest deficient homolog-like 2
 polymerase (DNA-directed), zeta 2, accessory subunit
HGNC Previous nameMAD2 (mitotic arrest deficient, yeast, homolog)-like 2
LocusID (NCBI) 10459
Atlas_Id 333
Location 1p36.22  [Link to chromosome band 1p36]
Location_base_pair Starts at 11674480 and ends at 11681148 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)
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    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]  ENSG00000116670 [Sequence]  chr1:11674480-11681148 [Contig_View]  MAD2L2 [Vega]
ICGC DataPortalENSG00000116670
TCGA cBioPortalMAD2L2
AceView (NCBI)MAD2L2
Genatlas (Paris)MAD2L2
SOURCE (Princeton)MAD2L2
Genetics Home Reference (NIH)MAD2L2
Genomic and cartography
GoldenPath hg38 (UCSC)MAD2L2  -     chr1:11674480-11681148 -  1p36.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MAD2L2  -     1p36.22   [Description]    (hg19-Feb_2009)
GoldenPathMAD2L2 - 1p36.22 [CytoView hg19]  MAD2L2 - 1p36.22 [CytoView hg38]
ImmunoBaseENSG00000116670
Genome Data Viewer NCBIMAD2L2 [Mapview hg19]  
OMIM604094   617243   
Gene and transcription
Genbank (Entrez)AF072933 AF080398 AF139365 AF157482 AK027327
RefSeq transcript (Entrez)NM_001127325 NM_006341
Consensus coding sequences : CCDS (NCBI)MAD2L2
Gene ExpressionMAD2L2 [ NCBI-GEO ]   MAD2L2 [ EBI - ARRAY_EXPRESS ]   MAD2L2 [ SEEK ]   MAD2L2 [ MEM ]
Gene Expression Viewer (FireBrowse)MAD2L2 [ Firebrowse - Broad ]
GenevisibleExpression of MAD2L2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10459
GTEX Portal (Tissue expression)MAD2L2
Human Protein AtlasENSG00000116670-MAD2L2 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ9UI95
Domaine pattern : Prosite (Expaxy)HORMA (PS50815)   
Domains : Interpro (EBI)HORMA_dom    HORMA_dom_sf   
Domain families : Pfam (Sanger)HORMA (PF02301)   
Domain families : Pfam (NCBI)pfam02301   
Conserved Domain (NCBI)MAD2L2
PDB (RSDB)3ABD    3ABE    3VU7    4EXT    4GK0    4GK5    5XPT    5XPU    6BC8    6BCD    6BI7    6K07    6K08    6KEA    6KTO    6NIF   
PDB Europe3ABD    3ABE    3VU7    4EXT    4GK0    4GK5    5XPT    5XPU    6BC8    6BCD    6BI7    6K07    6K08    6KEA    6KTO    6NIF   
PDB (PDBSum)3ABD    3ABE    3VU7    4EXT    4GK0    4GK5    5XPT    5XPU    6BC8    6BCD    6BI7    6K07    6K08    6KEA    6KTO    6NIF   
PDB (IMB)3ABD    3ABE    3VU7    4EXT    4GK0    4GK5    5XPT    5XPU    6BC8    6BCD    6BI7    6K07    6K08    6KEA    6KTO    6NIF   
Structural Biology KnowledgeBase3ABD    3ABE    3VU7    4EXT    4GK0    4GK5    5XPT    5XPU    6BC8    6BCD    6BI7    6K07    6K08    6KEA    6KTO    6NIF   
SCOP (Structural Classification of Proteins)3ABD    3ABE    3VU7    4EXT    4GK0    4GK5    5XPT    5XPU    6BC8    6BCD    6BI7    6K07    6K08    6KEA    6KTO    6NIF   
CATH (Classification of proteins structures)3ABD    3ABE    3VU7    4EXT    4GK0    4GK5    5XPT    5XPU    6BC8    6BCD    6BI7    6K07    6K08    6KEA    6KTO    6NIF   
SuperfamilyQ9UI95
AlphaFold pdb e-kbQ9UI95   
Human Protein Atlas [tissue]ENSG00000116670-MAD2L2 [tissue]
HPRD07246
Protein Interaction databases
DIP (DOE-UCLA)Q9UI95
IntAct (EBI)Q9UI95
BioGRIDMAD2L2
STRING (EMBL)MAD2L2
ZODIACMAD2L2
Ontologies - Pathways
QuickGOQ9UI95
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  regulation of cell growth  protein binding  nucleus  nucleoplasm  chromosome  nucleolus  spindle  cytosol  double-strand break repair  actin filament organization  mitotic spindle assembly checkpoint signaling  JUN kinase binding  negative regulation of epithelial to mesenchymal transition  negative regulation of transcription by competitive promoter binding  zeta DNA polymerase complex  zeta DNA polymerase complex  zeta DNA polymerase complex  positive regulation of peptidyl-serine phosphorylation  site of double-strand break  negative regulation of protein catabolic process  error-prone translesion synthesis  DNA damage response, signal transduction resulting in transcription  negative regulation of DNA-binding transcription factor activity  positive regulation of isotype switching  positive regulation of transcription, DNA-templated  cell division  RNA polymerase II-specific DNA-binding transcription factor binding  negative regulation of canonical Wnt signaling pathway  negative regulation of ubiquitin protein ligase activity  negative regulation of double-strand break repair via homologous recombination  negative regulation of cell-cell adhesion mediated by cadherin  negative regulation of transcription regulatory region DNA binding  positive regulation of double-strand break repair via nonhomologous end joining  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  regulation of cell growth  protein binding  nucleus  nucleoplasm  chromosome  nucleolus  spindle  cytosol  double-strand break repair  actin filament organization  mitotic spindle assembly checkpoint signaling  JUN kinase binding  negative regulation of epithelial to mesenchymal transition  negative regulation of transcription by competitive promoter binding  zeta DNA polymerase complex  zeta DNA polymerase complex  zeta DNA polymerase complex  positive regulation of peptidyl-serine phosphorylation  site of double-strand break  negative regulation of protein catabolic process  error-prone translesion synthesis  DNA damage response, signal transduction resulting in transcription  negative regulation of DNA-binding transcription factor activity  positive regulation of isotype switching  positive regulation of transcription, DNA-templated  cell division  RNA polymerase II-specific DNA-binding transcription factor binding  negative regulation of canonical Wnt signaling pathway  negative regulation of ubiquitin protein ligase activity  negative regulation of double-strand break repair via homologous recombination  negative regulation of cell-cell adhesion mediated by cadherin  negative regulation of transcription regulatory region DNA binding  positive regulation of double-strand break repair via nonhomologous end joining  
Pathways : KEGGKEGG_CELL_CYCLE    KEGG_OOCYTE_MEIOSIS    KEGG_PROGESTERONE_MEDIATED_OOCYTE_MATURATION   
NDEx NetworkMAD2L2
Atlas of Cancer Signalling NetworkMAD2L2
Wikipedia pathwaysMAD2L2
Orthology - Evolution
OrthoDB10459
GeneTree (enSembl)ENSG00000116670
Phylogenetic Trees/Animal Genes : TreeFamMAD2L2
Homologs : HomoloGeneMAD2L2
Homology/Alignments : Family Browser (UCSC)MAD2L2
Gene fusions - Rearrangements
Fusion : MitelmanSPATA6::MAD2L2 [1p33/1p36.22]  
Fusion : QuiverMAD2L2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMAD2L2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MAD2L2
dbVarMAD2L2
ClinVarMAD2L2
MonarchMAD2L2
1000_GenomesMAD2L2 
Exome Variant ServerMAD2L2
GNOMAD BrowserENSG00000116670
Varsome BrowserMAD2L2
ACMGMAD2L2 variants
VarityQ9UI95
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]  
Somatic Mutations in Cancer : COSMIC3DMAD2L2
Mutations and Diseases : HGMDMAD2L2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaMAD2L2
DgiDB (Drug Gene Interaction Database)MAD2L2
DoCM (Curated mutations)MAD2L2
CIViC (Clinical Interpretations of Variants in Cancer)MAD2L2
Cancer3DMAD2L2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604094    617243   
Orphanet634   
DisGeNETMAD2L2
MedgenMAD2L2
Genetic Testing Registry MAD2L2
NextProtQ9UI95 [Medical]
GENETestsMAD2L2
Target ValidationMAD2L2
Huge Navigator MAD2L2 [HugePedia]
ClinGenMAD2L2
Clinical trials, drugs, therapy
MyCancerGenomeMAD2L2
Protein Interactions : CTDMAD2L2
Pharm GKB GenePA398
PharosQ9UI95
Clinical trialMAD2L2
Miscellaneous
canSAR (ICR)MAD2L2
HarmonizomeMAD2L2
ARCHS4MAD2L2
DataMed IndexMAD2L2
Probes
Litterature
PubMed103 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXMAD2L2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Jan 20 12:42:50 CET 2022

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.