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

Gene ID: 10459, updated on 11-Oct-2020

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

Genomic context

See MAD2L2 in Genome Data Viewer
Location:
1p36.22
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (11674480..11691559, 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

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
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 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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:21100
    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:21100
    HORMA; HORMA domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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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