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

    Gene ID: 10459, updated on 19-Sep-2024

    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; AllianceGenome:HGNC:6764
    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
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MAD2L2 in Genome Data Viewer
    Location:
    1p36.22
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (11674480..11691830, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (11218548..11235917, complement)
    RS_2024_09 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 ATAC-STARR-seq lymphoblastoid silent region 265 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 266 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 267 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:11718034-11719233 Neighboring gene F-box protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 268 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 269 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 168 Neighboring gene F-box protein 44 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 169 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 170 Neighboring gene F-box protein 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 270 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 271 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:11743170-11743751 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:11744701-11745201 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:11750065-11750574 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:11750575-11751082 Neighboring gene dorsal inhibitory axon guidance protein Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:11764337-11764964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 171 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:11786269-11787256 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 172 Neighboring gene angiotensin II receptor associated protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:11808242-11808918 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:11808919-11809595 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 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

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2023-10-20)

    ClinGen Genome Curation Page
    Haploinsufficency

    No evidence available (Last evaluated 2023-10-20)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 error-prone translesion synthesis IDA
    Inferred from Direct Assay
    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 DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    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 double-strand break repair via nonhomologous end joining NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of epithelial to mesenchymal transition IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of extracellular matrix assembly IEA
    Inferred from Electronic Annotation
    more info
     
    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 regulation of cell growth IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in somatic diversification of immunoglobulins involved in immune response NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in telomere maintenance in response to DNA damage NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of anaphase-promoting complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in chromatin NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in chromosome IC
    Inferred by Curator
    more info
    PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm 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 site of double-strand break NAS
    Non-traceable Author Statement
    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
     
    part_of zeta DNA polymerase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of zeta DNA polymerase complex IPI
    Inferred from Physical Interaction
    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
      15641..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
      B3KNE3, Q5TGW7, Q9UI95, Q9UNA7, Q9Y6I6
      UniProtKB/TrEMBL
      B1AK44
      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
      B3KNE3, Q5TGW7, Q9UI95, Q9UNA7, Q9Y6I6
      UniProtKB/TrEMBL
      B1AK44
      Related
      ENSP00000365882.4, ENST00000376692.9
      Conserved Domains (1) summary
      pfam02301
      Location:21103
      HORMA; HORMA domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      11674480..11691830 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047430782.1XP_047286738.1  mitotic spindle assembly checkpoint protein MAD2B isoform X1

      UniProtKB/Swiss-Prot
      B3KNE3, Q5TGW7, Q9UI95, Q9UNA7, Q9Y6I6
      UniProtKB/TrEMBL
      B1AK44
      Related
      ENSP00000513221.1, ENST00000697274.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      11218548..11235917 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333847.1XP_054189822.1  mitotic spindle assembly checkpoint protein MAD2B isoform X1

      UniProtKB/Swiss-Prot
      B3KNE3, Q5TGW7, Q9UI95, Q9UNA7, Q9Y6I6
      UniProtKB/TrEMBL
      B1AK44