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

Gene ID: 10459, updated on 3-Apr-2024

Summary

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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
mouse all
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Genomic context

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See MAD2L2 in Genome Data Viewer
Location:
1p36.22
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (11674480..11691830, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (11218548..11235917, complement)
105.20220307 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Identification of the promoter region regulating the transcription of the REV7 gene. Shimada Y, et al. Biochem Biophys Res Commun, 2023 Jun 25. PMID 37094431
  2. Evolution of Rev7 interactions in eukaryotic TLS DNA polymerase Polζ. McPherson KS, et al. J Biol Chem, 2023 Feb. PMID 36592930, Free PMC Article
  3. Oxaliplatin promotes siMAD2L2‑induced apoptosis in colon cancer cells. Ma L, et al. Mol Med Rep, 2021 Sep. PMID 34278473, Free PMC Article
  4. MDA-MB-157 Cell Line Presents High Levels of MAD2L2 and Dysregulated Mitosis. Pernicone N, et al. Anticancer Res, 2020 Oct. PMID 32988869
  5. Inactivation of REV7 enhances chemosensitivity and overcomes acquired chemoresistance in testicular germ cell tumors. Sakurai Y, et al. Cancer Lett, 2020 Oct 1. PMID 32553781

See all (112) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. AURKB promotes bladder cancer progression by deregulating the p53 DNA damage response pathway via MAD2L2.
    Title: AURKB promotes bladder cancer progression by deregulating the p53 DNA damage response pathway via MAD2L2.
  2. MAD2L2, a key regulator in ovarian cancer and promoting tumor progression.
    Title: MAD2L2, a key regulator in ovarian cancer and promoting tumor progression.
  3. The promoting effect and mechanism of MAD2L2 on stemness maintenance and malignant progression in glioma.
    Title: The promoting effect and mechanism of MAD2L2 on stemness maintenance and malignant progression in glioma.
  4. Identification of the promoter region regulating the transcription of the REV7 gene.
    Title: Identification of the promoter region regulating the transcription of the REV7 gene.
  5. Bridging Gaps in HDR Improvement: The Role of MAD2L2, SCAI, and SCR7.
    Title: Bridging Gaps in HDR Improvement: The Role of MAD2L2, SCAI, and SCR7.
  6. Evolution of Rev7 interactions in eukaryotic TLS DNA polymerase Polzeta.
    Title: Evolution of Rev7 interactions in eukaryotic TLS DNA polymerase Polζ.
  7. CHAMP1 binds to REV7/FANCV and promotes homologous recombination repair.
    Title: CHAMP1 binds to REV7/FANCV and promotes homologous recombination repair.
  8. Oxaliplatin promotes siMAD2L2induced apoptosis in colon cancer cells.
    Title: Oxaliplatin promotes siMAD2L2‑induced apoptosis in colon cancer cells.
  9. Inhibition of MAD2B alleviates venous neointimal formation by suppressing VSMCs proliferation and migration.
    Title: Inhibition of MAD2B alleviates venous neointimal formation by suppressing VSMCs proliferation and migration.
  10. MAD2L2 dimerization and TRIP13 control shieldin activity in DNA repair.
    Title: MAD2L2 dimerization and TRIP13 control shieldin activity in DNA repair.
Submit: New GeneRIF Correction See all GeneRIFs (54)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Fanconi anemia complementation group V
MedGen: C4310652 OMIM: 617243 GeneReviews: Fanconi Anemia
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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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 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 
part_of 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

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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)

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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_001127325.2 → NP_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:21 → 103
    HORMA; HORMA domain

  2. NM_006341.4 → NP_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:21 → 103
    HORMA; HORMA domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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_047430782.1 → XP_047286738.1  mitotic spindle assembly checkpoint protein MAD2B isoform X1

    UniProtKB/Swiss-Prot
    B3KNE3, Q5TGW7, Q9UI95, Q9UNA7, Q9Y6I6
    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_054333847.1 → XP_054189822.1  mitotic spindle assembly checkpoint protein MAD2B isoform X1

    UniProtKB/Swiss-Prot
    B3KNE3, Q5TGW7, Q9UI95, Q9UNA7, Q9Y6I6
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UI95.2 GenPept UniProtKB/Swiss-Prot:Q9UI95

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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