Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10459
Gene name	Mitotic arrest deficient 2 like 2
Gene symbol	MAD2L2
Synonyms (NCBI Gene)	FANCVMAD2BPOLZ2REV7
Chromosome	1
Chromosome location	1p36.22
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 o

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1057517674	A>C,T	Pathogenic	Missense variant, coding sequence variant

Show/Hide all (38)

miRTarBase ID	miRNA	Experiments	Reference
MIRT002570	hsa-miR-124-3p	Microarray	18668037
MIRT002570	hsa-miR-124-3p	Microarray	15685193
MIRT047029	hsa-miR-187-3p	CLASH	23622248
MIRT036379	hsa-miR-1229-3p	CLASH	23622248
MIRT1125092	hsa-miR-1324	CLIP-seq
MIRT1125093	hsa-miR-3672	CLIP-seq
MIRT1125094	hsa-miR-4743	CLIP-seq
MIRT1125095	hsa-miR-103a	CLIP-seq
MIRT1125096	hsa-miR-107	CLIP-seq
MIRT1125092	hsa-miR-1324	CLIP-seq
MIRT1125097	hsa-miR-144	CLIP-seq
MIRT1125098	hsa-miR-3127-5p	CLIP-seq
MIRT1125099	hsa-miR-3157-3p	CLIP-seq
MIRT1125093	hsa-miR-3672	CLIP-seq
MIRT1125100	hsa-miR-3918	CLIP-seq
MIRT1125101	hsa-miR-4436b-3p	CLIP-seq
MIRT1125102	hsa-miR-494	CLIP-seq
MIRT1125095	hsa-miR-103a	CLIP-seq
MIRT1125096	hsa-miR-107	CLIP-seq
MIRT2265794	hsa-miR-1275	CLIP-seq
MIRT1125092	hsa-miR-1324	CLIP-seq
MIRT2265795	hsa-miR-1343	CLIP-seq
MIRT1125097	hsa-miR-144	CLIP-seq
MIRT1125099	hsa-miR-3157-3p	CLIP-seq
MIRT2265796	hsa-miR-3612	CLIP-seq
MIRT1125093	hsa-miR-3672	CLIP-seq
MIRT2265797	hsa-miR-4290	CLIP-seq
MIRT2265798	hsa-miR-4459	CLIP-seq
MIRT2265799	hsa-miR-4525	CLIP-seq
MIRT2265800	hsa-miR-4665-5p	CLIP-seq
MIRT2265801	hsa-miR-4667-3p	CLIP-seq
MIRT2265802	hsa-miR-4695-5p	CLIP-seq
MIRT2265803	hsa-miR-4723-5p	CLIP-seq
MIRT1125094	hsa-miR-4743	CLIP-seq
MIRT2265804	hsa-miR-625	CLIP-seq
MIRT2265805	hsa-miR-637	CLIP-seq
MIRT2265806	hsa-miR-650	CLIP-seq
MIRT2265807	hsa-miR-665	CLIP-seq

Show/Hide all (48)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	19443654
GO:0000785	Component	Chromatin	NAS	29656893
GO:0001558	Process	Regulation of cell growth	IGI	15988022
GO:0002208	Process	Somatic diversification of immunoglobulins involved in immune response	NAS	29656893
GO:0003714	Function	Transcription corepressor activity	IMP	19443654
GO:0005515	Function	Protein binding	IPI	10527948, 10531379, 11459826, 11485998, 11717438, 17296730, 17541814, 17719540, 20850016, 21063390, 22828282, 25416956, 26496610, 29656893, 29789392, 32296183, 32814053, 34354233
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	17541814, 19443654
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005680	Component	Anaphase-promoting complex	IDA	11459825
GO:0005694	Component	Chromosome	IC	29656893
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005819	Component	Spindle	IDA	21063390
GO:0005819	Component	Spindle	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006281	Process	DNA repair	IBA
GO:0006281	Process	DNA repair	IEA
GO:0006302	Process	Double-strand break repair	IGI	15988022
GO:0006974	Process	DNA damage response	IEA
GO:0007015	Process	Actin filament organization	IMP	19443654
GO:0007094	Process	Mitotic spindle assembly checkpoint signaling	TAS	10366450
GO:0008432	Function	JUN kinase binding	IDA	17296730
GO:0010717	Process	Regulation of epithelial to mesenchymal transition	IEA
GO:0010719	Process	Negative regulation of epithelial to mesenchymal transition	IMP	19443654
GO:0010944	Process	Negative regulation of transcription by competitive promoter binding	IMP	19443654
GO:0016035	Component	Zeta DNA polymerase complex	IBA
GO:0016035	Component	Zeta DNA polymerase complex	IDA	20164194
GO:0016035	Component	Zeta DNA polymerase complex	IPI	24449906
GO:0033138	Process	Positive regulation of peptidyl-serine phosphorylation	IDA	17296730
GO:0035861	Component	Site of double-strand break	IC	29656893
GO:0035861	Component	Site of double-strand break	NAS	29656893
GO:0042177	Process	Negative regulation of protein catabolic process	IDA	11459826
GO:0042276	Process	Error-prone translesion synthesis	IDA	24449906
GO:0042772	Process	DNA damage response, signal transduction resulting in transcription	IDA	17296730
GO:0043247	Process	Telomere maintenance in response to DNA damage	NAS	29656893
GO:0045830	Process	Positive regulation of isotype switching	IDA	29656893
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	17296730
GO:0051301	Process	Cell division	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	19443654
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IMP	19443654
GO:1904667	Process	Negative regulation of ubiquitin protein ligase activity	IDA	11459826
GO:2000042	Process	Negative regulation of double-strand break repair via homologous recombination	IDA	29656893
GO:2000048	Process	Negative regulation of cell-cell adhesion mediated by cadherin	IMP	19443654
GO:2001034	Process	Positive regulation of double-strand break repair via nonhomologous end joining	IDA	29656893
GO:2001034	Process	Positive regulation of double-strand break repair via nonhomologous end joining	NAS	29656893

MIM	HGNC	e!Ensembl
604094	6764	ENSG00000116670

Q9UI95

Protein name

Mitotic spindle assembly checkpoint protein MAD2B (Mitotic arrest deficient 2-like protein 2) (MAD2-like protein 2) (REV7 homolog) (hREV7)

Protein function

Adapter protein able to interact with different proteins and involved in different biological processes (PubMed:11459825, PubMed:11459826, PubMed:17296730, PubMed:17719540, PubMed:19443654, PubMed:29656893). Mediates the interaction between the

PDB

3ABD , 3ABE , 3VU7 , 4EXT , 4GK0 , 4GK5 , 5XPT , 5XPU , 6BC8 , 6BCD , 6BI7 , 6K07 , 6K08 , 6KEA , 6KTO , 6M7A , 6M7B , 6NIF , 6VE5 , 6WS0 , 6WS5 , 6WW9 , 6WWA , 7L9P

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02301	HORMA	16 → 135	HORMA domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:11717438}.

Sequence

MTTLTRQDLNFGQVVADVLCEFLEVAVHLILYVREVYPVGIFQKRKKYNVPVQMSCHPEL
NQYIQDTLHCVKPLLEKNDVEKVVVVILDKEHRPVEKFVFEITQPPLLSISSDSLLSHVE
QLLRAFILKISVCDAVLDHNPPGCTFTVLVHTREAATRNMEKIQVIKDFPWILADEQDVH
MHDPRLIPLKTMTSDILKMQLYVEERAHKGS

Sequence length

211

Interactions

View interactions

	KEGG		Reactome
	Cell cycle Oocyte meiosis Progesterone-mediated oocyte maturation Bacterial invasion of epithelial cells		Translesion synthesis by REV1 Translesion synthesis by POLK Translesion synthesis by POLI

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Fanconi anemia complementation group V	Pathogenic	rs1057517674	RCV000412563

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs878778	RCV005932137
Cervical cancer	Benign	rs2233015	RCV005903399
Cholangiocarcinoma	Benign	rs878778, rs2233015	RCV005932146 RCV005903406
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs878778	RCV005932148
Familial pancreatic carcinoma	Benign	rs878778	RCV005932141
Gastric cancer	Benign	rs2233015	RCV005903402
Hepatocellular carcinoma	Benign	rs878778	RCV005932138
Lung cancer	Benign	rs2233015	RCV005903407
Lymphoma	Benign	rs878778, rs2233015	RCV005932144 RCV005903403
MAD2L2-related disorder	Likely benign; Uncertain significance; Benign	rs542007676, rs770656293, rs578142640, rs759283688, rs377687352, rs2521914758, rs764536092, rs2233020, rs143263619, rs141637184, rs151024263, rs2233015	RCV003943736 RCV003898838 RCV004750292 RCV003936458 RCV003412019 RCV003418767 RCV003919344 RCV003970660 RCV003932917 RCV003912858 RCV003970475 RCV003978287
Malignant lymphoma, large B-cell, diffuse	Benign	rs878778	RCV005932142
Malignant tumor of urinary bladder	Likely benign	rs140482494	RCV005930446
Nonpapillary renal cell carcinoma	Benign	rs878778	RCV005932139
Ovarian cancer	Benign; Uncertain significance	rs878778, rs1296763654, rs2233015	RCV005932140 RCV005928593 RCV005903400
Ovarian serous cystadenocarcinoma	Benign	rs2233015	RCV005903404
Sarcoma	Benign	rs878778, rs2233015	RCV005932143 RCV005903401
Thymoma	Benign	rs2233015	RCV005903405
Uterine carcinosarcoma	Benign	rs878778	RCV005932145
Uterine corpus endometrial carcinoma	Benign	rs878778, rs2233015	RCV005932147 RCV005903408

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Anemia Hemolytic	Associate	31915374
Aortic Dissection	Associate	37684281
Breast Neoplasms	Stimulate	27712588
Cap Myopathy	Associate	26987799
Carcinogenesis	Associate	27712588
Carcinoma Hepatocellular	Associate	38049741
Chromosome Aberrations	Associate	23303771
Colorectal Neoplasms	Associate	34278473, 36012568, 40018943
Colorectal Neoplasms	Inhibit	38167649
Dyskinesia Drug Induced	Associate	34599261
Fanconi Anemia	Associate	38557443
Glioma	Associate	34281455
Lung Neoplasms	Stimulate	32655004
Metabolic Syndrome	Associate	37684281
Neoplasms	Associate	26152289
Neoplasms	Inhibit	38167649
Ovarian Neoplasms	Associate	38167649
Pulmonary Disease Chronic Obstructive	Associate	32655004
Retrograde Degeneration	Associate	38557443
Squamous Cell Carcinoma of Head and Neck	Associate	26152289

MAD2L2 (mitotic arrest deficient 2 like 2)