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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	10459
Gene name Gene Name - the full gene name approved by the HGNC.	Mitotic arrest deficient 2 like 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MAD2L2
Synonyms (NCBI Gene) Gene synonyms aliases	FANCV, MAD2B, POLZ2, REV7
Disease Acronyms (UniProt) Disease acronyms from UniProt database	FANCV
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1p36.22
Summary Summary of gene provided in NCBI Entrez Gene.	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

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

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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

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	19443654
GO:0001102	Function	RNA polymerase II activating transcription factor binding	IPI	19443654
GO:0001558	Process	Regulation of cell growth	IGI	15988022
GO:0005515	Function	Protein binding	IPI	10527948, 10531379, 11459826, 11485998, 11717438, 17296730, 17541814, 17719540, 20850016, 21063390, 22828282, 25416956, 26496610, 29656893, 29789392, 32296183, 32814053
GO:0005634	Component	Nucleus	IDA	17541814, 19443654
GO:0005654	Component	Nucleoplasm	TAS
GO:0005680	Component	Anaphase-promoting complex	IDA	11459825
GO:0005694	Component	Chromosome	IC	29656893
GO:0005730	Component	Nucleolus	IDA
GO:0005819	Component	Spindle	IDA	21063390
GO:0005829	Component	Cytosol	IDA
GO:0006302	Process	Double-strand break repair	IGI	15988022
GO:0007015	Process	Actin filament organization	IMP	19443654
GO:0007094	Process	Mitotic spindle assembly checkpoint	TAS	10366450
GO:0008432	Function	JUN kinase binding	IDA	17296730
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	21873635
GO:0016035	Component	Zeta DNA polymerase complex	IDA	20164194
GO:0033138	Process	Positive regulation of peptidyl-serine phosphorylation	IDA	17296730
GO:0035861	Component	Site of double-strand break	IC	29656893
GO:0042177	Process	Negative regulation of protein catabolic process	IDA	11459826
GO:0042276	Process	Error-prone translesion synthesis	TAS
GO:0042772	Process	DNA damage response, signal transduction resulting in transcription	IDA	17296730
GO:0043433	Process	Negative regulation of DNA-binding transcription factor activity	IDA	19443654
GO:0045830	Process	Positive regulation of isotype switching	IDA	29656893
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IMP	17296730
GO:0051301	Process	Cell division	IEA
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:2000678	Process	Negative regulation of transcription regulatory region DNA binding	IMP	19443654
GO:2001034	Process	Positive regulation of double-strand break repair via nonhomologous end joining	IDA	29656893

MIM	HGNC	e!Ensembl
604094	6764	ENSG00000116670

Protein

UniProt ID

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 (23)

Disease term	Disease name	dbSNP ID	References
Causal
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966 View all (89 more)
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074 View all (25 more)
Azoospermia	Azoospermia	rs200969445, rs144567652, rs765353898
Cafe-au-lait spot	Cafe au lait spots, multiple	rs1057518792, rs1555613206, rs1555608663
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322 View all (150 more)
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Fanconi anemia	Fanconi Anemia, FANCONI ANEMIA, COMPLEMENTATION GROUP V, Fanconi anemia	rs121918164, rs118203997, rs118203998, rs118203999, rs397507552, rs778507965, rs747851434, rs587776570, rs121907930, rs794726660, rs137852986, rs730880277, rs730880278, rs104894221, rs587778340 View all (653 more)	27500492, 28297620
Hirschsprung disease	Hirschsprung Disease	rs76262710, rs75996173, rs77316810, rs75076352, rs76534745, rs76764689, rs76449634, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323 View all (4 more)
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	rs63750743, rs104894655, rs121908987, rs587776643, rs28938173, rs121908989, rs121908991, rs267606977, rs267606978, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377 View all (752 more)
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297	28297620
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Microphthalmos	Microphthalmos	rs794726862, rs1329285216
Myelodysplasia	Myelodysplasia	rs141601766, rs1261178797
Myelodysplastic syndrome	MYELODYSPLASTIC SYNDROME	rs193303018, rs387906631, rs1576745225, rs373145711, rs752746786, rs377023736, rs373221034, rs1576749014, rs1600586587	28297620
Neutropenia	Neutropenia	rs879253882
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Renal insufficiency	Renal Insufficiency	rs1596536873
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Tetralogy of fallot	Tetralogy of Fallot	rs28939668, rs727504412, rs864321649, rs774966208, rs876660981, rs886044220, rs1114167357, rs1569484126, rs1569484164, rs1569484122, rs1569484124, rs1569484042, rs1569484120, rs1569484299, rs1569484301, rs1569484288 View all (1 more)

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Ptosis	Blepharoptosis, Ptosis	ClinVar
Fanconi Anemia	Fanconi anemia complementation group V, Fanconi anemia	GenCC

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text Mining
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)