• Gene id: 10459

Gene Summary

• Gene Symbol: MAD2L2   Gene   UCSC   Ensembl
• Aliases: FANCV, MAD2B, POLZ2, REV7
• Gene name: mitotic arrest deficient 2 like 2
• Alternate names: mitotic spindle assembly checkpoint protein MAD2B, 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,
• Gene location: 1p36.22 (11691620: 11674479)     Exons: 10     NC_000001.11
• Gene summary(Entrez): 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 o
• OMIM: 604094

Protein Summary

• Protein general information: Q9UI95  
  • Name: Mitotic spindle assembly checkpoint protein MAD2B (Mitotic arrest deficient 2 like protein 2) (MAD2 like protein 2) (REV7 homolog) (hREV7)
  • Length: 211  
  • Mass: 24334
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MTTLTRQDLNFGQVVADVLCEFLEVAVHLILYVREVYPVGIFQKRKKYNVPVQMSCHPELNQYIQDTLHCVKPLL
  EKNDVEKVVVVILDKEHRPVEKFVFEITQPPLLSISSDSLLSHVEQLLRAFILKISVCDAVLDHNPPGCTFTVLV
  HTREAATRNMEKIQVIKDFPWILADEQDVHMHDPRLIPLKTMTSDILKMQLYVEERAHKGS

• Structural information:
  • Protein Domains: (13..20-)
    (/note="HORMA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00109"-)
  • Interpro: IPR003511  IPR036570  
  • Prosite: PS50815
  • PDB: 3ABD 3ABE 3VU7 4EXT 4GK0 4GK5 5XPT 5XPU 6BC8 6BCD 6BI7 6K07 6K08 6KEA 6NIF
  • PDBsum: 3ABD 3ABE 3VU7 4EXT 4GK0 4GK5 5XPT 5XPU 6BC8 6BCD 6BI7 6K07 6K08 6KEA 6NIF
  • STRING: ENSP00000235310
• Other Databases: GeneCards:  MAD2L2  Malacards:  MAD2L2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016035	zeta DNA polymerase complex	IBA	cellular component
GO:1904667	negative regulation of ubiquitin protein ligase activity	IDA	biological process
GO:0042177	negative regulation of protein catabolic process	IDA	biological process
GO:0005680	anaphase-promoting complex	IDA	colocalizes with
GO:0042772	DNA damage response, signal transduction resulting in transcription	IDA	biological process
GO:0033138	positive regulation of peptidyl-serine phosphorylation	IDA	biological process
GO:0016035	zeta DNA polymerase complex	IDA	cellular component
GO:0008432	JUN kinase binding	IDA	molecular function
GO:0005819	spindle	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0001558	regulation of cell growth	IGI	biological process
GO:0006302	double-strand break repair	IGI	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0051301	cell division	IEA	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0007094	mitotic spindle assembly checkpoint	TAS	biological process
GO:0042276	error-prone translesion synthesis	TAS	biological process
GO:0042276	error-prone translesion synthesis	TAS	biological process
GO:0042276	error-prone translesion synthesis	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001102	RNA polymerase II activating transcription factor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043433	negative regulation of DNA-binding transcription factor activity	IDA	biological process
GO:0007015	actin filament organization	IMP	biological process
GO:0010719	negative regulation of epithelial to mesenchymal transition	IMP	biological process
GO:2000678	negative regulation of transcription regulatory region DNA binding	IMP	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0010944	negative regulation of transcription by competitive promoter binding	IMP	biological process
GO:0090090	negative regulation of canonical Wnt signaling pathway	IMP	biological process
GO:2000048	negative regulation of cell-cell adhesion mediated by cadherin	IMP	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005694	chromosome	IC	cellular component
GO:0045830	positive regulation of isotype switching	IDA	biological process
GO:0035861	site of double-strand break	IC	cellular component
GO:2000042	negative regulation of double-strand break repair via homologous recombination	IDA	biological process
GO:2001034	positive regulation of double-strand break repair via nonhomologous end joining	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04110	Cell cycle
hsa04114	Oocyte meiosis
hsa04914	Progesterone-mediated oocyte maturation
hsa05100	Bacterial invasion of epithelial cells

Diseases

Associated diseases	References
Fanconi anemia	KEGG:H00238
Fanconi anemia	KEGG:H00238
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray