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

Gene ID: 10459, updated on 3-Jun-2018
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; Vega:OTTHUMG00000002231
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
See MAD2L2 in Genome Data Viewer
Location:
1p36.22
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (11674480..11691621, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (11734537..11751678, 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

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Fanconi anemia, complementation group V
MedGen: C4310652 OMIM: 617243 GeneReviews: Fanconi Anemia
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NHGRI GWAS Catalog

Description
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
NHGRI GWA Catalog
  • Bacterial invasion of epithelial cells, organism-specific biosystem (from KEGG)
    Bacterial invasion of epithelial cells, organism-specific biosystemMany pathogenic bacteria can invade phagocytic and non-phagocytic cells and colonize them intracellularly, then become disseminated to other cells. Invasive bacteria induce their own uptake by non-ph...
  • Bacterial invasion of epithelial cells, conserved biosystem (from KEGG)
    Bacterial invasion of epithelial cells, conserved biosystemMany pathogenic bacteria can invade phagocytic and non-phagocytic cells and colonize them intracellularly, then become disseminated to other cells. Invasive bacteria induce their own uptake by non-ph...
  • Cell Cycle, organism-specific biosystem (from WikiPathways)
    Cell Cycle, organism-specific biosystemThe cell cycle is the series of events that takes place in a cell leading to its division and duplication (replication). Regulation of the cell cycle involves processes crucial to the survival of a c...
  • Cell cycle, organism-specific biosystem (from KEGG)
    Cell cycle, organism-specific biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
  • Cell cycle, conserved biosystem (from KEGG)
    Cell cycle, conserved biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
  • DNA Damage Bypass, organism-specific biosystem (from REACTOME)
    DNA Damage Bypass, organism-specific biosystemIn addition to various processes for removing lesions from the DNA, cells have developed specific mechanisms for tolerating unrepaired damage during the replication of the genome. These mechanisms ar...
  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
  • DNA polymerase zeta complex, organism-specific biosystem (from KEGG)
    DNA polymerase zeta complex, organism-specific biosystemStructural complex; Genetic information processing; DNA polymerase
  • DNA polymerase zeta complex, conserved biosystem (from KEGG)
    DNA polymerase zeta complex, conserved biosystemStructural complex; Genetic information processing; DNA polymerase
  • Endoderm Differentiation, organism-specific biosystem (from WikiPathways)
    Endoderm Differentiation, organism-specific biosystemModel depicting endoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
  • Oocyte meiosis, organism-specific biosystem (from KEGG)
    Oocyte meiosis, organism-specific biosystemDuring meiosis, a single round of DNA replication is followed by two rounds of chromosome segregation, called meiosis I and meiosis II. At meiosis I, homologous chromosomes recombine and then segrega...
  • Oocyte meiosis, conserved biosystem (from KEGG)
    Oocyte meiosis, conserved biosystemDuring meiosis, a single round of DNA replication is followed by two rounds of chromosome segregation, called meiosis I and meiosis II. At meiosis I, homologous chromosomes recombine and then segrega...
  • Progesterone-mediated oocyte maturation, organism-specific biosystem (from KEGG)
    Progesterone-mediated oocyte maturation, organism-specific biosystemXenopus oocytes are naturally arrested at G2 of meiosis I. Exposure to either insulin/IGF-1 or the steroid hormone progesterone breaks this arrest and induces resumption of the two meiotic division c...
  • Progesterone-mediated oocyte maturation, conserved biosystem (from KEGG)
    Progesterone-mediated oocyte maturation, conserved biosystemXenopus oocytes are naturally arrested at G2 of meiosis I. Exposure to either insulin/IGF-1 or the steroid hormone progesterone breaks this arrest and induces resumption of the two meiotic division c...
  • Shigellosis, organism-specific biosystem (from KEGG)
    Shigellosis, organism-specific biosystemShigellosis, or bacillary dysentery, is an intestinal infection caused by Shigella, a genus of enterobacteria. Shigella are potential food-borne pathogens that are capable of colonizing the intestina...
  • Translesion synthesis by POLI, organism-specific biosystem (from REACTOME)
    Translesion synthesis by POLI, organism-specific biosystemDNA polymerase iota (POLI) is a Y family DNA polymerase with an active site that favours Hoogsteen base pairing instead of Watson-Crick base pairing. POLI-mediated Hoogsteen base pairing and rotation...
  • Translesion synthesis by POLK, organism-specific biosystem (from REACTOME)
    Translesion synthesis by POLK, organism-specific biosystemDNA polymerase kappa (POLK) is a Y family DNA polymerase that is most efficient in translesion DNA synthesis (TLS) across oxidation derivatives of DNA bases, such as thymine glycol (Tg) and 8-oxoguan...
  • Translesion synthesis by REV1, organism-specific biosystem (from REACTOME)
    Translesion synthesis by REV1, organism-specific biosystemREV1 (hREV1) encodes a template-dependent dCMP transferase that can insert a C residue opposite an abasic site (Lin et al. 1999, Gibbs et al. 2000). Interaction with monoubiquitinated PCNA at a DNA d...
  • Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template, organism-specific biosystem (from REACTOME)
    Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template, organism-specific biosystemUbiquitous environmental and endogenous genotoxic agents cause DNA lesions that can interfere with normal DNA metabolism including DNA replication, eventually resulting in mutations that lead to carc...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

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

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_001127325.1NP_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, OTTHUMP00000002275, ENST00000376667.7, OTTHUMT00000006346
    Conserved Domains (1) summary
    pfam02301
    Location:21103
    HORMA; HORMA domain
  2. NM_006341.3NP_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, ENST00000376692.8
    Conserved Domains (1) summary
    pfam02301
    Location:21103
    HORMA; HORMA domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    11674480..11691621 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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