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    MAD2L2 mitotic arrest deficient 2 like 2 [ Homo sapiens (human) ]

    Gene ID: 10459, updated on 8-Jul-2021

    Summary

    Official Symbol
    MAD2L2provided by HGNC
    Official Full Name
    mitotic arrest deficient 2 like 2provided by HGNC
    Primary source
    HGNC:HGNC:6764
    See related
    Ensembl:ENSG00000116670 MIM:604094
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    REV7; FANCV; MAD2B; POLZ2
    Summary
    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]
    Expression
    Broad expression in testis (RPKM 22.7), bone marrow (RPKM 15.4) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See MAD2L2 in Genome Data Viewer
    Location:
    1p36.22
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (11674480..11691559, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (11734537..11751616, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene F-box protein 2 Neighboring gene F-box protein 44 Neighboring gene F-box protein 6 Neighboring gene dorsal inhibitory axon guidance protein Neighboring gene angiotensin II receptor associated protein Neighboring gene atrophin-1-like Neighboring gene chromosome 1 open reading frame 167

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Fanconi anemia, complementation group V
    MedGen: C4310652 OMIM: 617243 GeneReviews: Fanconi Anemia
    Compare labs
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables JUN kinase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response, signal transduction resulting in transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in actin filament organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in double-strand break repair IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in mitotic spindle assembly checkpoint signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cell-cell adhesion mediated by cadherin IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of double-strand break repair via homologous recombination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of epithelial to mesenchymal transition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription by competitive promoter binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of transcription regulatory region DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of ubiquitin protein ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of double-strand break repair via nonhomologous end joining IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of isotype switching IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of peptidyl-serine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cell growth IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in chromosome IC
    Inferred by Curator
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in site of double-strand break IC
    Inferred by Curator
    more info
    PubMed 
    located_in spindle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of zeta DNA polymerase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of zeta DNA polymerase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    mitotic spindle assembly checkpoint protein MAD2B
    Names
    MAD2 (mitotic arrest deficient, yeast, homolog)-like 2
    MAD2 mitotic arrest deficient-like 2
    MAD2-like protein 2
    REV7 homolog
    hREV7
    mitotic arrest deficient 2-like protein 2
    mitotic arrest deficient homolog-like 2
    polymerase (DNA-directed), zeta 2, accessory subunit

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_052907.1 RefSeqGene

      Range
      5168..22309
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001127325.2NP_001120797.1  mitotic spindle assembly checkpoint protein MAD2B

      See identical proteins and their annotated locations for NP_001120797.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) has the 5'-most first exon. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AF157482, BI517654
      Consensus CDS
      CCDS134.1
      UniProtKB/Swiss-Prot
      Q9UI95
      UniProtKB/TrEMBL
      A0A024R4I4
      Related
      ENSP00000365855.3, ENST00000376667.7
      Conserved Domains (1) summary
      pfam02301
      Location:21103
      HORMA; HORMA domain
    2. NM_006341.4NP_006332.3  mitotic spindle assembly checkpoint protein MAD2B

      See identical proteins and their annotated locations for NP_006332.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AF157482
      Consensus CDS
      CCDS134.1
      UniProtKB/Swiss-Prot
      Q9UI95
      UniProtKB/TrEMBL
      A0A024R4I4
      Related
      ENSP00000365882.4, ENST00000376692.9
      Conserved Domains (1) summary
      pfam02301
      Location:21103
      HORMA; HORMA domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      11674480..11691559 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024450407.1XP_024306175.1  mitotic spindle assembly checkpoint protein MAD2B isoform X1

      Related
      ENSP00000411807.1, ENST00000445656.5
      Conserved Domains (1) summary
      pfam02301
      Location:51130
      HORMA; HORMA domain
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