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

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: mouse all
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Genomic context

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

REV7-p53 interaction inhibits ATM-mediated DNA damage signaling.
Title: REV7-p53 interaction inhibits ATM-mediated DNA damage signaling.
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.
MAD2L2, a key regulator in ovarian cancer and promoting tumor progression.
Title: MAD2L2, a key regulator in ovarian cancer and promoting tumor progression.
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.
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.
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.
Evolution of Rev7 interactions in eukaryotic TLS DNA polymerase Polzeta.
Title: Evolution of Rev7 interactions in eukaryotic TLS DNA polymerase Polζ.
CHAMP1 binds to REV7/FANCV and promotes homologous recombination repair.
Title: CHAMP1 binds to REV7/FANCV and promotes homologous recombination repair.
Oxaliplatin promotes siMAD2L2induced apoptosis in colon cancer cells.
Title: Oxaliplatin promotes siMAD2L2‑induced apoptosis in colon cancer cells.
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.

Submit: New GeneRIF Correction See all GeneRIFs (55)

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	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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G16288 (e-PCR)
- UniSTS:31270

D1S1742E (e-PCR)
- UniSTS:150319

RH80622 (e-PCR)
- UniSTS:87274

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

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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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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

NG_052907.1 RefSeqGene

Range

15641..22309

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

11674480..11691830 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_060925.1 Alternate T2T-CHM13v2.0

Range

11218548..11235917 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

B3KNE3, Q5TGW7, Q9UI95, Q9UNA7, Q9Y6I6