Mad2l2 MAD2 mitotic arrest deficient-like 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mad2l2provided by MGI
Official Full Name: MAD2 mitotic arrest deficient-like 2provided by MGI
Primary source: MGI:MGI:1919140
See related: Ensembl:ENSMUSG00000029003 AllianceGenome:MGI:1919140
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: REV7; MAD2B; repro22; G1-453-4; 2310033C13Rik
Summary: Predicted to enable JUN kinase binding activity and RNA polymerase II-specific DNA-binding transcription factor binding activity. Predicted to be involved in several processes, including negative regulation of cell-cell adhesion mediated by cadherin; regulation of nucleobase-containing compound metabolic process; and regulation of protein metabolic process. Predicted to act upstream of or within DNA repair and cell division. Predicted to be located in cytosol; nucleolus; and spindle. Predicted to be part of anaphase-promoting complex and zeta DNA polymerase complex. Is expressed in several structures, including brain; ganglia; genitourinary system; intestine; and olfactory epithelium. Human ortholog(s) of this gene implicated in Fanconi anemia complementation group V. Orthologous to human MAD2L2 (mitotic arrest deficient 2 like 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in testis adult (RPKM 68.8), CNS E14 (RPKM 17.7) and 21 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 E2; 4 78.67 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (148214615..148230161)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (148130158..148145704)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

REV7 Monomer Is Unable to Participate in Double Strand Break Repair and Translesion Synthesis but Suppresses Mitotic Errors.
Title: REV7 Monomer Is Unable to Participate in Double Strand Break Repair and Translesion Synthesis but Suppresses Mitotic Errors.
MAD2B Blunts Chronic Unpredictable Stress and Corticosterone Stimulation-Induced Depression-Like Behaviors in Mice.
Title: MAD2B Blunts Chronic Unpredictable Stress and Corticosterone Stimulation-Induced Depression-Like Behaviors in Mice.
MAD2B promotes podocyte injury through regulating Numb-dependent Notch 1 pathway in diabetic nephropathy.
Title: MAD2B promotes podocyte injury through regulating Numb-dependent Notch 1 pathway in diabetic nephropathy.
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.
MAD2B contributes to parietal epithelial cell activation and crescentic glomerulonephritis via Skp2.
Title: MAD2B contributes to parietal epithelial cell activation and crescentic glomerulonephritis via Skp2.
REV7 is required for processing AID initiated DNA lesions in activated B cells.
Title: REV7 is required for processing AID initiated DNA lesions in activated B cells.
53BP1 pathway therefore comprises distinct double-strand break repair activities within chromatin and single-stranded DNA compartments, which explains both the immunological differences between 53bp1- and Rev7- deficient mice and the context specificity of the pathway
Title: 53BP1 cooperation with the REV7-shieldin complex underpins DNA structure-specific NHEJ.
Skp2, a confirmed APC/C-CDH1 substrate and E-cadherin destroyer, was increased in TGF-beta1-treated proximal tubular epithelial cells, which could be blocked by MAD2B depletion.
Title: MAD2B promotes tubular epithelial-to-mesenchymal transition and renal tubulointerstitial fibrosis via Skp2.
This study demonstrates using super-resolution microscopy that numerous MAD2L2 microfoci are exclusively associated with euchromatin, similar to other factors of the DNA damage response. In the absence of MAD2L2 the amount of heterochromatin demarcated by H3K9me2 was significantly increased.
Title: MAD2L2 Promotes Open Chromatin in Embryonic Stem Cells and Derepresses the Dppa3 Locus.
Increased gonadotropins caused by the absence of functional oocytes and accumulation of DNA damage in cells caused by the lack of repair function could be responsible for the development and progression of ovarian tumors in the Rev7 mutant mouse.
Title: Lack of Rev7 function results in development of tubulostromal adenomas in mouse ovary.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (5) 1 citation
Chemically induced (ENU) (1)
Endonuclease-mediated (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH124777 (e-PCR)
- UniSTS:161599

Mad2l2 (e-PCR), detects polymorphism
- UniSTS:546556

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables JUN kinase binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II-specific DNA-binding transcription factor binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within DNA damage response	IEA Inferred from Electronic Annotation more info
involved_in DNA damage response, signal transduction resulting in transcription	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within DNA repair	IEA Inferred from Electronic Annotation more info
involved_in actin filament organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell cycle	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell division	IEA Inferred from Electronic Annotation more info
involved_in double-strand break repair	ISO Inferred from Sequence Orthology more info
involved_in error-prone translesion synthesis	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of DNA-binding transcription factor activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of canonical Wnt signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell-cell adhesion mediated by cadherin	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of double-strand break repair via homologous recombination	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of epithelial to mesenchymal transition	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of transcription by competitive promoter binding	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of transcription regulatory region DNA binding	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of ubiquitin protein ligase activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of double-strand break repair via nonhomologous end joining	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of extracellular matrix assembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of isotype switching	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of peptidyl-serine phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in regulation of cell growth	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
part_of chromatin	NAS Non-traceable Author Statement more info	PubMed
located_in chromosome	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in site of double-strand break	NAS Non-traceable Author Statement more info	PubMed
located_in spindle	ISO Inferred from Sequence Orthology more info
part_of zeta DNA polymerase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of zeta DNA polymerase complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: mitotic spindle assembly checkpoint protein MAD2B

Names: MAD2-like protein 2; mitotic arrest deficient 2-like protein 2

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001305420.1 → NP_001292349.1 mitotic spindle assembly checkpoint protein MAD2B

See identical proteins and their annotated locations for NP_001292349.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.

Source sequence(s)

AK009587, AL606929, CO043741

Consensus CDS

CCDS18932.1

UniProtKB/Swiss-Prot

Q3TMY6, Q91VP1, Q9D752

UniProtKB/TrEMBL

A2A7G6

Related

ENSMUSP00000081146.3, ENSMUST00000084129.9

Conserved Domains (1) summary

pfam02301
Location:18 → 103

HORMA; HORMA domain
NM_027985.3 → NP_082261.2 mitotic spindle assembly checkpoint protein MAD2B

See identical proteins and their annotated locations for NP_082261.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.

Source sequence(s)

AK009587, AK150216, CO043741

Consensus CDS

CCDS18932.1

UniProtKB/Swiss-Prot

Q3TMY6, Q91VP1, Q9D752

UniProtKB/TrEMBL

A2A7G6

Related

ENSMUSP00000030860.3, ENSMUST00000030860.9

Conserved Domains (1) summary

pfam02301
Location:18 → 103

HORMA; HORMA domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000070.7 Reference GRCm39 C57BL/6J

Range

148214615..148230161

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030253789.1 → XP_030109649.1 mitotic spindle assembly checkpoint protein MAD2B isoform X1

UniProtKB/Swiss-Prot

Q3TMY6, Q91VP1, Q9D752

UniProtKB/TrEMBL

A2A7G6

Conserved Domains (1) summary

pfam02301
Location:18 → 103

HORMA; HORMA domain
XM_006539187.3 → XP_006539250.1 mitotic spindle assembly checkpoint protein MAD2B isoform X1

See identical proteins and their annotated locations for XP_006539250.1

UniProtKB/Swiss-Prot

Q3TMY6, Q91VP1, Q9D752

UniProtKB/TrEMBL

A2A7G6

Conserved Domains (1) summary

pfam02301
Location:18 → 103

HORMA; HORMA domain
XM_030253798.2 → XP_030109658.1 mitotic spindle assembly checkpoint protein MAD2B isoform X3

UniProtKB/TrEMBL

A2A7G6, A2A7G7

Conserved Domains (1) summary

pfam02301
Location:18 → 100

HORMA; HORMA domain
XM_006539183.3 → XP_006539246.1 mitotic spindle assembly checkpoint protein MAD2B isoform X1

See identical proteins and their annotated locations for XP_006539246.1

UniProtKB/Swiss-Prot

Q3TMY6, Q91VP1, Q9D752

UniProtKB/TrEMBL

A2A7G6

Conserved Domains (1) summary

pfam02301
Location:18 → 103

HORMA; HORMA domain
XM_030253794.2 → XP_030109654.1 mitotic spindle assembly checkpoint protein MAD2B isoform X2

UniProtKB/TrEMBL

A2A7G6

Conserved Domains (1) summary

pfam02301
Location:18 → 100

HORMA; HORMA domain
XM_006539186.3 → XP_006539249.1 mitotic spindle assembly checkpoint protein MAD2B isoform X1

See identical proteins and their annotated locations for XP_006539249.1

UniProtKB/Swiss-Prot

Q3TMY6, Q91VP1, Q9D752

UniProtKB/TrEMBL

A2A7G6

Conserved Domains (1) summary

pfam02301
Location:18 → 103

HORMA; HORMA domain
XM_030253797.2 → XP_030109657.1 mitotic spindle assembly checkpoint protein MAD2B isoform X3

UniProtKB/TrEMBL

A2A7G6, A2A7G7

Conserved Domains (1) summary

pfam02301
Location:18 → 100

HORMA; HORMA domain
XM_030253791.1 → XP_030109651.1 mitotic spindle assembly checkpoint protein MAD2B isoform X2

UniProtKB/TrEMBL

A2A7G6

Conserved Domains (1) summary

pfam02301
Location:18 → 100

HORMA; HORMA domain
XM_030253788.2 → XP_030109648.1 mitotic spindle assembly checkpoint protein MAD2B isoform X1

UniProtKB/Swiss-Prot

Q3TMY6, Q91VP1, Q9D752

UniProtKB/TrEMBL

A2A7G6

Conserved Domains (1) summary

pfam02301
Location:18 → 103

HORMA; HORMA domain
XM_006539189.4 → XP_006539252.1 mitotic spindle assembly checkpoint protein MAD2B isoform X3

See identical proteins and their annotated locations for XP_006539252.1

UniProtKB/TrEMBL

A2A7G6, A2A7G7

Conserved Domains (1) summary

pfam02301
Location:18 → 100

HORMA; HORMA domain
XM_030253795.2 → XP_030109655.1 mitotic spindle assembly checkpoint protein MAD2B isoform X3

UniProtKB/TrEMBL

A2A7G6, A2A7G7

Conserved Domains (1) summary

pfam02301
Location:18 → 100

HORMA; HORMA domain
XM_030253792.2 → XP_030109652.1 mitotic spindle assembly checkpoint protein MAD2B isoform X2

UniProtKB/TrEMBL

A2A7G6

Conserved Domains (1) summary

pfam02301
Location:18 → 100

HORMA; HORMA domain
XM_030253799.2 → XP_030109659.1 mitotic spindle assembly checkpoint protein MAD2B isoform X3

UniProtKB/TrEMBL

A2A7G6, A2A7G7

Related

ENSMUSP00000101332.2, ENSMUST00000105707.2

Conserved Domains (1) summary

pfam02301
Location:18 → 100

HORMA; HORMA domain
XM_030253796.1 → XP_030109656.1 mitotic spindle assembly checkpoint protein MAD2B isoform X3

UniProtKB/TrEMBL

A2A7G6, A2A7G7

Conserved Domains (1) summary

pfam02301
Location:18 → 100

HORMA; HORMA domain
XM_030253793.2 → XP_030109653.1 mitotic spindle assembly checkpoint protein MAD2B isoform X2

UniProtKB/TrEMBL

A2A7G6

Conserved Domains (1) summary

pfam02301
Location:18 → 100

HORMA; HORMA domain
XM_006539188.3 → XP_006539251.1 mitotic spindle assembly checkpoint protein MAD2B isoform X2

See identical proteins and their annotated locations for XP_006539251.1

UniProtKB/TrEMBL

A2A7G6

Conserved Domains (1) summary

pfam02301
Location:18 → 100

HORMA; HORMA domain
XM_030253790.2 → XP_030109650.1 mitotic spindle assembly checkpoint protein MAD2B isoform X1

UniProtKB/Swiss-Prot

Q3TMY6, Q91VP1, Q9D752

UniProtKB/TrEMBL

A2A7G6

Related

ENSMUSP00000122774.2, ENSMUST00000132698.8

Conserved Domains (1) summary

pfam02301
Location:18 → 103

HORMA; HORMA domain