Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MAD2L2 Gene

Aliases for MAD2L2 Gene

  • Mitotic Arrest Deficient 2 Like 2 2 3 5
  • MAD2 (Mitotic Arrest Deficient, Yeast, Homolog)-Like 2 2 3
  • Polymerase (DNA-Directed), Zeta 2, Accessory Subunit 2 3
  • Mitotic Arrest Deficient 2-Like Protein 2 3 4
  • Mitotic Arrest Deficient Homolog-Like 2 2 3
  • MAD2-Like Protein 2 3 4
  • REV7 Homolog 3 4
  • MAD2B 3 4
  • HREV7 3 4
  • REV7 3 4
  • Mitotic Spindle Assembly Checkpoint Protein MAD2B 3
  • MAD2 Mitotic Arrest Deficient-Like 2 3
  • FANCV 3
  • POLZ2 3

External Ids for MAD2L2 Gene

Previous GeneCards Identifiers for MAD2L2 Gene

  • GC01M011695
  • GC01M011578
  • GC01M011343
  • GC01M011444
  • GC01M011668
  • GC01M010888

Summaries for MAD2L2 Gene

Entrez Gene Summary for MAD2L2 Gene

  • The protein encoded by this gene is a component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. The encoded protein, which is similar to MAD2L1, is capable of interacting with ADAM9, ADAM15, REV1, and REV3 proteins. [provided by RefSeq, Jul 2008]

GeneCards Summary for MAD2L2 Gene

MAD2L2 (Mitotic Arrest Deficient 2 Like 2) is a Protein Coding gene. Diseases associated with MAD2L2 include Fanconi Anemia, Complementation Group V and Fanconi Anemia, Complementation Group A. Among its related pathways are Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template and Bacterial invasion of epithelial cells. GO annotations related to this gene include RNA polymerase II activating transcription factor binding and JUN kinase binding.

UniProtKB/Swiss-Prot for MAD2L2 Gene

  • Adapter protein able to interact with different proteins and involved in different biological processes. Mediates the interaction between the error-prone DNA polymerase zeta catalytic subunit REV3L and the inserter polymerase REV1, thereby mediating the second polymerase switching in translesion DNA synthesis. Translesion DNA synthesis releases the replication blockade of replicative polymerases, stalled in presence of DNA lesions. May also regulate another aspect of cellular response to DNA damage through regulation of the JNK-mediated phosphorylation and activation of the transcriptional activator ELK1. Inhibits the FZR1- and probably CDC20-mediated activation of the anaphase promoting complex APC thereby regulating progression through the cell cycle. Regulates TCF7L2-mediated gene transcription and may play a role in epithelial-mesenchymal transdifferentiation.

Gene Wiki entry for MAD2L2 Gene

Additional gene information for MAD2L2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAD2L2 Gene

Genomics for MAD2L2 Gene

Regulatory Elements for MAD2L2 Gene

Enhancers for MAD2L2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H011735 1.7 FANTOM5 ENCODE dbSUPER 12 -45.1 -45099 3 HDGF PKNOX1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 AGTRAP TARDBP TNFRSF1B ENSG00000226849 MAD2L2 DRAXIN EXOSC10 C1orf127 MTHFR CLCN6
GH01H011718 1.5 Ensembl ENCODE dbSUPER 12.6 -27.7 -27749 1 ATF1 ZNF2 ZNF121 GLIS2 ZNF143 ZNF207 ATF7 DEK ZC3H11A REST MAD2L2 DRAXIN GC01P011722
GH01H011680 1.3 ENCODE dbSUPER 14.2 +9.8 9816 3 ARID4B SIN3A YY1 ZNF143 SP3 SP5 REST KAT8 SMARCA4 GLIS1 MAD2L2 FBXO6 DRAXIN PIR43631
GH01H011689 1.8 FANTOM5 Ensembl ENCODE dbSUPER 7.7 +0.1 117 4 TCF12 ZNF366 ZSCAN5C FOS ATF7 EGR2 SP3 ZBTB2 ZBTB11 REST MAD2L2 FBXO2 MTHFR CLCN6 TNFRSF1B DRAXIN
GH01H011670 1 ENCODE 12.5 +20.4 20366 2 HDGF PKNOX1 FOXA2 ARNT ARID4B YY1 TCF12 ZNF121 ZNF766 GATA2 MAD2L2 FBXO6 PIR43631
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MAD2L2 on UCSC Golden Path with GeneCards custom track

Genomic Location for MAD2L2 Gene

Chromosome:
1
Start:
11,674,480 bp from pter
End:
11,691,788 bp from pter
Size:
17,309 bases
Orientation:
Minus strand

Genomic View for MAD2L2 Gene

Genes around MAD2L2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAD2L2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAD2L2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAD2L2 Gene

Proteins for MAD2L2 Gene

  • Protein details for MAD2L2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UI95-MD2L2_HUMAN
    Recommended name:
    Mitotic spindle assembly checkpoint protein MAD2B
    Protein Accession:
    Q9UI95
    Secondary Accessions:
    • B3KNE3
    • Q5TGW7
    • Q9UNA7
    • Q9Y6I6

    Protein attributes for MAD2L2 Gene

    Size:
    211 amino acids
    Molecular mass:
    24334 Da
    Quaternary structure:
    • Homooligomer (Probable). Interacts with REV1. Interacts with ADAM9. Interacts with CHAMP1. Interacts with FZR1 (in complex with the anaphase promoting complex APC). Interacts with CDC20; PubMed:11459825 could not detect the interaction. Interacts with RAN. Interacts with ELK1; the interaction is direct and recruits MAD2L2 to ELK1-specific promoters. May interact with the JNK kinases MAPK8 and/or MAPK9 to stimulate ELK1 phosphorylation and transcriptional activity upon DNA damage. Interacts with TCF7L2; prevents its binding to promoters and negatively modulates its transcriptional activity. Interacts with YY1AP1. Interacts with S.flexneri protein ipaB; prevents the interaction of MAD2L2 with FZR1 and CDC20 resulting in an activation of the anaphase-promoting complex APC and a cell cycle arrest. Interacts with PRCC; the interaction is direct. Interacts with POGZ. Heterodimer with REV3L. This dimer forms the minimal DNA polymerase zeta complex (Pol-zeta2), with REV3L bearing DNA polymerase catalytic activity, although its activity is very low in this context. Component of the tetrameric Pol-zeta complex (Pol-zeta4), which consists of REV3L, MAD2L2, POLD2 and POLD3; Pol-zeta4 is the fully active form of DNA polymerase zeta (PubMed:24449906).

    Three dimensional structures from OCA and Proteopedia for MAD2L2 Gene

neXtProt entry for MAD2L2 Gene

Post-translational modifications for MAD2L2 Gene

  • Ubiquitination at Lys90 and Lys190
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MAD2L2 Gene

Domains & Families for MAD2L2 Gene

Gene Families for MAD2L2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for MAD2L2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for MAD2L2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MAD2L2: view

No data available for UniProtKB/Swiss-Prot for MAD2L2 Gene

Function for MAD2L2 Gene

Molecular function for MAD2L2 Gene

GENATLAS Biochemistry:
mitotic arrest deficient protein 2-like 2,yeast homolog,component of the mitotic spindle assembly checkpoint,preventing the onset of anaphase until all chromosomes are properly aligned at the metaphase plate
UniProtKB/Swiss-Prot Function:
Adapter protein able to interact with different proteins and involved in different biological processes. Mediates the interaction between the error-prone DNA polymerase zeta catalytic subunit REV3L and the inserter polymerase REV1, thereby mediating the second polymerase switching in translesion DNA synthesis. Translesion DNA synthesis releases the replication blockade of replicative polymerases, stalled in presence of DNA lesions. May also regulate another aspect of cellular response to DNA damage through regulation of the JNK-mediated phosphorylation and activation of the transcriptional activator ELK1. Inhibits the FZR1- and probably CDC20-mediated activation of the anaphase promoting complex APC thereby regulating progression through the cell cycle. Regulates TCF7L2-mediated gene transcription and may play a role in epithelial-mesenchymal transdifferentiation.

Phenotypes From GWAS Catalog for MAD2L2 Gene

Gene Ontology (GO) - Molecular Function for MAD2L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001102 RNA polymerase II activating transcription factor binding IPI 19443654
GO:0005515 protein binding IPI 10527948
GO:0008432 JUN kinase binding IDA 17296730
genes like me logo Genes that share ontologies with MAD2L2: view
genes like me logo Genes that share phenotypes with MAD2L2: view

Human Phenotype Ontology for MAD2L2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MAD2L2 Gene

MGI Knock Outs for MAD2L2:

Animal Model Products

CRISPR Products

miRNA for MAD2L2 Gene

miRTarBase miRNAs that target MAD2L2

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MAD2L2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MAD2L2 Gene

Localization for MAD2L2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAD2L2 Gene

Nucleus. Cytoplasm, cytoskeleton, spindle. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAD2L2 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoli (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MAD2L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 17541814
GO:0005654 nucleoplasm TAS --
GO:0005680 colocalizes_with anaphase-promoting complex IDA 11459825
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with MAD2L2: view

Pathways & Interactions for MAD2L2 Gene

genes like me logo Genes that share pathways with MAD2L2: view

Pathways by source for MAD2L2 Gene

SIGNOR curated interactions for MAD2L2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for MAD2L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 19443654
GO:0001558 regulation of cell growth IGI 15988022
GO:0006281 DNA repair IEA --
GO:0006302 double-strand break repair IGI 15988022
GO:0006351 transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with MAD2L2: view

Drugs & Compounds for MAD2L2 Gene

No Compound Related Data Available

Transcripts for MAD2L2 Gene

Unigene Clusters for MAD2L2 Gene

MAD2 mitotic arrest deficient-like 2 (yeast):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MAD2L2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for MAD2L2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b
SP1: - -
SP2: - - - - -
SP3: - -
SP4: - -
SP5:
SP6:
SP7:

Relevant External Links for MAD2L2 Gene

GeneLoc Exon Structure for
MAD2L2
ECgene alternative splicing isoforms for
MAD2L2

Expression for MAD2L2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MAD2L2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MAD2L2 Gene

This gene is overexpressed in Platelet (44.2) and Placenta (24.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MAD2L2 Gene



Protein tissue co-expression partners for MAD2L2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MAD2L2 Gene:

MAD2L2

SOURCE GeneReport for Unigene cluster for MAD2L2 Gene:

Hs.19400

mRNA Expression by UniProt/SwissProt for MAD2L2 Gene:

Q9UI95-MD2L2_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for MAD2L2 Gene

  • Skin(4.2)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with MAD2L2: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MAD2L2 Gene

Orthologs for MAD2L2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MAD2L2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MAD2L2 33 34
  • 99.21 (n)
cow
(Bos Taurus)
Mammalia MAD2L2 33 34
  • 91.79 (n)
dog
(Canis familiaris)
Mammalia MAD2L2 33 34
  • 90.26 (n)
mouse
(Mus musculus)
Mammalia Mad2l2 33 16 34
  • 89.26 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MAD2L2 34
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MAD2L2 34
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAD2L2 33 34
  • 82.31 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia mad2l2 33
  • 77.09 (n)
Str.12948 33
African clawed frog
(Xenopus laevis)
Amphibia mad2l2-A 33
zebrafish
(Danio rerio)
Actinopterygii MAD2L2 (1 of 2) 34
  • 85 (a)
OneToMany
MAD2L2 (2 of 2) 34
  • 85 (a)
OneToMany
LOC557968 33
  • 75.83 (n)
Dr.17706 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9617 33
fruit fly
(Drosophila melanogaster)
Insecta rev7 34
  • 30 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons REV7 33
  • 43.99 (n)
Species where no ortholog for MAD2L2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MAD2L2 Gene

ENSEMBL:
Gene Tree for MAD2L2 (if available)
TreeFam:
Gene Tree for MAD2L2 (if available)

Paralogs for MAD2L2 Gene

No data available for Paralogs for MAD2L2 Gene

Variants for MAD2L2 Gene

Sequence variations from dbSNP and Humsavar for MAD2L2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_077981 Fanconi anemia, complementation group V (FANCV) [MIM:617243]
rs1057517674 Pathogenic 11,676,926(-) GGTGG(A/T)GGTGA reference, missense
rs1000848029 -- 11,678,381(+) ACTCC(A/C)GCTTG intron-variant
rs1000879171 -- 11,678,921(+) CACTT(C/T)GGGAG intron-variant
rs1001096536 -- 11,690,459(+) ACGCC(C/T)AGAAC intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for MAD2L2 Gene

Variant ID Type Subtype PubMed ID
nsv1076104 CNV deletion 25765185
nsv545416 CNV loss 21841781
nsv832758 CNV loss 17160897

Variation tolerance for MAD2L2 Gene

Residual Variation Intolerance Score: 30.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.46; 10.14% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MAD2L2 Gene

Human Gene Mutation Database (HGMD)
MAD2L2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAD2L2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAD2L2 Gene

Disorders for MAD2L2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for MAD2L2 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
fanconi anemia, complementation group v
  • fanconi anemia complementation group v
fanconi anemia, complementation group a
  • fanconi's anemia
ovarian clear cell carcinoma
  • clear-cell ovarian carcinoma
diabetic encephalopathy
renal cell carcinoma
  • renal cell carcinoma, clear cell, somatic
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

MD2L2_HUMAN
  • Fanconi anemia, complementation group V (FANCV) [MIM:617243]: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. {ECO:0000269 PubMed:27500492}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MAD2L2

Genetic Association Database (GAD)
MAD2L2
Human Genome Epidemiology (HuGE) Navigator
MAD2L2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MAD2L2
genes like me logo Genes that share disorders with MAD2L2: view

No data available for Genatlas for MAD2L2 Gene

Publications for MAD2L2 Gene

  1. Characterization of MAD2B and other mitotic spindle checkpoint genes. (PMID: 10366450) Cahill DP … Lengauer C (Genomics 1999) 2 3 4 22 60
  2. Biallelic inactivation of REV7 is associated with Fanconi anemia. (PMID: 27500492) Bluteau D … Soulier J (The Journal of clinical investigation 2016) 2 3 4 60
  3. Crystal structure of human REV7 in complex with a human REV3 fragment and structural implication of the interaction between DNA polymerase zeta and REV1. (PMID: 20164194) Hara K … Sato M (The Journal of biological chemistry 2010) 3 4 22 60
  4. Hepatocellular carcinoma-associated gene 2 interacts with MAD2L2. (PMID: 17541814) Li L … Huo K (Molecular and cellular biochemistry 2007) 3 4 22 60
  5. Genetic variation in the major mitotic checkpoint genes does not affect familial breast cancer risk. (PMID: 17268814) Vaclavicek A … Försti A (Breast cancer research and treatment 2007) 3 22 45 60

Products for MAD2L2 Gene

Sources for MAD2L2 Gene

Content
Loading form....