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

Gene Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4085
Gene name Gene Name - the full gene name approved by the HGNC.	Mitotic arrest deficient 2 like 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MAD2L1
Synonyms (NCBI Gene) Gene synonyms aliases	HSMAD2, MAD2
Chromosome Chromosome number	4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	4q27
Summary Summary of gene provided in NCBI Entrez Gene.	MAD2L1 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. MAD2L1 is related to the MAD2L2 gene located on chromosome 1. A MAD2 pseudogene has b

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miRTarBase ID	miRNA	Experiments	Reference
MIRT004853	hsa-miR-192-5p	Luciferase reporter assay, qRT-PCR, Western blot	19074876
MIRT023679	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT024623	hsa-miR-215-5p	Microarray	19074876
MIRT004853	hsa-miR-192-5p	Reporter assay;Western blot;Microarray;Other	19074876
MIRT048838	hsa-miR-93-5p	CLASH	23622248
MIRT054748	hsa-miR-28-5p	Luciferase reporter assay, QRTPCR, Western blot	24843176
MIRT536209	hsa-miR-6507-3p	PAR-CLIP	22012620
MIRT536208	hsa-miR-4738-3p	PAR-CLIP	22012620
MIRT536207	hsa-miR-4261	PAR-CLIP	22012620
MIRT536206	hsa-miR-3671	PAR-CLIP	22012620
MIRT536205	hsa-miR-1297	PAR-CLIP	22012620
MIRT536204	hsa-miR-26a-5p	PAR-CLIP	22012620
MIRT536203	hsa-miR-26b-5p	PAR-CLIP	22012620
MIRT536202	hsa-miR-4465	PAR-CLIP	22012620
MIRT536201	hsa-miR-376a-3p	PAR-CLIP	22012620
MIRT536200	hsa-miR-376b-3p	PAR-CLIP	22012620
MIRT536199	hsa-miR-3977	PAR-CLIP	22012620
MIRT536198	hsa-miR-3978	PAR-CLIP	22012620
MIRT736537	hsa-miR-139-5p	Luciferase reporter assay, Western blotting, qRT-PCR	33204298
MIRT536209	hsa-miR-6507-3p	PAR-CLIP	22012620
MIRT536208	hsa-miR-4738-3p	PAR-CLIP	22012620
MIRT536207	hsa-miR-4261	PAR-CLIP	22012620
MIRT536206	hsa-miR-3671	PAR-CLIP	22012620
MIRT536205	hsa-miR-1297	PAR-CLIP	22012620
MIRT536204	hsa-miR-26a-5p	PAR-CLIP	22012620
MIRT536203	hsa-miR-26b-5p	PAR-CLIP	22012620
MIRT536202	hsa-miR-4465	PAR-CLIP	22012620
MIRT536201	hsa-miR-376a-3p	PAR-CLIP	22012620
MIRT536200	hsa-miR-376b-3p	PAR-CLIP	22012620
MIRT536199	hsa-miR-3977	PAR-CLIP	22012620
MIRT536198	hsa-miR-3978	PAR-CLIP	22012620
MIRT1125045	hsa-miR-101	CLIP-seq
MIRT1125046	hsa-miR-1238	CLIP-seq
MIRT1125047	hsa-miR-1284	CLIP-seq
MIRT1125048	hsa-miR-203	CLIP-seq
MIRT1125049	hsa-miR-26a	CLIP-seq
MIRT1125050	hsa-miR-26b	CLIP-seq
MIRT1125051	hsa-miR-3120-3p	CLIP-seq
MIRT1125052	hsa-miR-3139	CLIP-seq
MIRT1125053	hsa-miR-329	CLIP-seq
MIRT1125054	hsa-miR-362-3p	CLIP-seq
MIRT1125055	hsa-miR-3646	CLIP-seq
MIRT1125056	hsa-miR-3658	CLIP-seq
MIRT1125057	hsa-miR-3686	CLIP-seq
MIRT1125058	hsa-miR-376a	CLIP-seq
MIRT1125059	hsa-miR-376b	CLIP-seq
MIRT1125060	hsa-miR-3941	CLIP-seq
MIRT1125061	hsa-miR-3942-5p	CLIP-seq
MIRT1125062	hsa-miR-3974	CLIP-seq
MIRT1125063	hsa-miR-4289	CLIP-seq
MIRT1125064	hsa-miR-433	CLIP-seq
MIRT1125065	hsa-miR-4633-3p	CLIP-seq
MIRT1125066	hsa-miR-4698	CLIP-seq
MIRT1125067	hsa-miR-4703-5p	CLIP-seq
MIRT1125068	hsa-miR-4742-3p	CLIP-seq
MIRT1125069	hsa-miR-4760-3p	CLIP-seq
MIRT1125070	hsa-miR-4764-3p	CLIP-seq
MIRT1125071	hsa-miR-493	CLIP-seq
MIRT1125072	hsa-miR-495	CLIP-seq
MIRT1125073	hsa-miR-548aa	CLIP-seq
MIRT1125074	hsa-miR-603	CLIP-seq
MIRT1125075	hsa-miR-607	CLIP-seq
MIRT1125076	hsa-miR-708	CLIP-seq
MIRT1125077	hsa-miR-873	CLIP-seq
MIRT1125047	hsa-miR-1284	CLIP-seq
MIRT1125051	hsa-miR-3120-3p	CLIP-seq
MIRT1125057	hsa-miR-3686	CLIP-seq
MIRT1125068	hsa-miR-4742-3p	CLIP-seq
MIRT1125072	hsa-miR-495	CLIP-seq
MIRT2035291	hsa-miR-499-3p	CLIP-seq
MIRT2035292	hsa-miR-499a-3p	CLIP-seq
MIRT2035293	hsa-miR-582-5p	CLIP-seq
MIRT2035294	hsa-miR-587	CLIP-seq
MIRT2035295	hsa-miR-935	CLIP-seq
MIRT2265790	hsa-miR-3163	CLIP-seq
MIRT2265791	hsa-miR-340	CLIP-seq
MIRT2265792	hsa-miR-4436a	CLIP-seq
MIRT2265793	hsa-miR-4643	CLIP-seq
MIRT1125072	hsa-miR-495	CLIP-seq
MIRT2565090	hsa-miR-3613-3p	CLIP-seq
MIRT2565091	hsa-miR-548ac	CLIP-seq
MIRT2565092	hsa-miR-548d-3p	CLIP-seq
MIRT2565093	hsa-miR-548z	CLIP-seq

Transcription factors

Show/Hide all(4)

Transcription factor	Regulation	Reference
BRCA1	Activation	15563594
ETV6	Repression	20190817
POU2F1	Activation	15563594
RUNX1	Repression	20190817

Show/Hide all(37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000070	Process	Mitotic sister chromatid segregation	IEA
GO:0000132	Process	Establishment of mitotic spindle orientation	IMP	23509069
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000776	Component	Kinetochore	IBA
GO:0000776	Component	Kinetochore	IDA	17363900, 19468067
GO:0000776	Component	Kinetochore	IDA	8824189, 19229290, 20133940
GO:0000776	Component	Kinetochore	IEA
GO:0000922	Component	Spindle pole	IEA
GO:0005515	Function	Protein binding	IPI	10200259, 10527948, 10700282, 12006501, 15182668, 15525512, 16189514, 16525508, 17443180, 17443186, 18022367, 18022368, 18318601, 18692475, 18794143, 18981471, 19010891, 19143472, 19273613, 19615732, 20133940, 20212161, 20360068, 20951947, 21041666, 21300909, 21407176, 21666598, 217
GO:0005634	Component	Nucleus	IDA	18981471, 19010891, 20870947
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	18981471
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0007094	Process	Mitotic spindle assembly checkpoint signaling	IBA
GO:0007094	Process	Mitotic spindle assembly checkpoint signaling	IDA	18981471
GO:0007094	Process	Mitotic spindle assembly checkpoint signaling	IEA
GO:0007094	Process	Mitotic spindle assembly checkpoint signaling	NAS	11535616
GO:0033597	Component	Mitotic checkpoint complex	IPI	27509861
GO:0042177	Process	Negative regulation of protein catabolic process	IDA	11459825
GO:0042802	Function	Identical protein binding	IPI	16525508, 18022367, 18318601, 21041666, 21772247
GO:0042803	Function	Protein homodimerization activity	IPI	18022367
GO:0044615	Component	Nuclear pore nuclear basket	IDA	18981471
GO:0045930	Process	Negative regulation of mitotic cell cycle	IMP	21274008
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	8824189, 20870947
GO:0051301	Process	Cell division	IEA
GO:0051660	Process	Establishment of centrosome localization	IMP	23509069
GO:0051783	Process	Regulation of nuclear division	IEA
GO:0072686	Component	Mitotic spindle	IDA	20133940
GO:0090267	Process	Positive regulation of mitotic cell cycle spindle assembly checkpoint	IDA	8824189, 22898774
GO:1901991	Process	Negative regulation of mitotic cell cycle phase transition	IEA
GO:1904667	Process	Negative regulation of ubiquitin protein ligase activity	IDA	11459825
GO:1990728	Component	Mitotic spindle assembly checkpoint MAD1-MAD2 complex	IEA
GO:1990728	Component	Mitotic spindle assembly checkpoint MAD1-MAD2 complex	IPI	12006501

MIM	HGNC	e!Ensembl
601467	6763	ENSG00000164109

Protein

UniProt ID

Q13257

Protein name

Mitotic spindle assembly checkpoint protein MAD2A (HsMAD2) (Mitotic arrest deficient 2-like protein 1) (MAD2-like protein 1)

Protein function

Component of the spindle-assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate (PubMed:15024386, PubMed:29162720). In the closed conformation (C-MAD2) forms a heterotetrameric c

PDB

1DUJ , 1GO4 , 1KLQ , 1S2H , 2QYF , 2V64 , 2VFX , 3GMH , 5KHU , 5LCW , 6F0X , 6TLJ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02301	HORMA	16 → 196	HORMA domain	Domain

Sequence

MALQLSREQGITLRGSAEIVAEFFSFGINSILYQRGIYPSETFTRVQKYGLTLLVTTDLE
LIKYLNNVVEQLKDWLYKCSVQKLVVVISNIESGEVLERWQFDIECDKTAKDDSAPREKS
QKAIQDEIRSVIRQITATVTFLPLLEVSCSFDLLIYTDKDLVVPEKWEESGPQFITNSEE
VRLRSFTTTIHKVNSMVAYKIPVND

Sequence length

205

Interactions

View interactions

	KEGG		Reactome
	Cell cycle Oocyte meiosis Progesterone-mediated oocyte maturation Human T-cell leukemia virus 1 infection		Inhibition of the proteolytic activity of APC/C required for the onset of anaphase by mitotic spindle checkpoint components Inactivation of APC/C via direct inhibition of the APC/C complex Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Cdc20:Phospho-APC/C mediated degradation of Cyclin A APC/C:Cdc20 mediated degradation of mitotic proteins APC-Cdc20 mediated degradation of Nek2A Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion RHO GTPases Activate Formins Mitotic Prometaphase EML4 and NUDC in mitotic spindle formation

Show/Hide Unknown Diseases (5)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Colorectal Cancer	Colorectal cancer	N/A	N/A	GWAS
Coronary artery disease	Coronary artery disease	N/A	N/A	GWAS
Dementia	Dementia	N/A	N/A	GWAS
Hepatocellular Carcinoma	Hepatocellular carcinoma	Overlapping CRISPR screens and HCC expression microarray data, we found 13 clinically relevant targets that are essential for HCC tumor cell growth and were significantly up-regulated in HCC tumors	31022357	CBGDA
Myocardial Infarction	Myocardial infarction	N/A	N/A	GWAS

Show/Hide Text Mining Associations (68)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma	Associate	15457580
Adenocarcinoma of Lung	Associate	27610375, 27835911, 32149105, 32795325, 33204298, 34039308, 34304612, 37537521
Adrenocortical Carcinoma	Associate	32147961, 35185794, 38053725
Aneuploidy	Inhibit	11066082
Aneuploidy	Associate	17322345, 18699967, 20034488, 32057913
Arthritis Rheumatoid	Associate	31173250, 32840301
Breast Neoplasms	Associate	11066082, 17456764, 26287798, 33128008, 33499770, 35456460, 36930083
Burkitt Lymphoma	Associate	24843176
Carcinogenesis	Associate	12970887, 15457580, 17322345, 30346937
Carcinoma Hepatocellular	Associate	19664251, 29728556, 30341252, 31737652, 32623384, 34045512, 34337056, 34603487, 34696748, 35132379, 36317111
Carcinoma Non Small Cell Lung	Associate	26439031, 30346937, 31805030, 32795325
Carcinoma Ovarian Epithelial	Associate	22069160
Carcinoma Renal Cell	Associate	18791270
Carcinoma Squamous Cell	Associate	32795325, 35603384
Celiac Disease	Associate	21378598
Cholangiocarcinoma	Associate	33725402
Chromosomal Instability	Associate	17467818, 25411801, 26183163, 32066746
Chromosome Disorders	Associate	11066082, 32057913
Colorectal Neoplasms	Stimulate	12970887
Colorectal Neoplasms	Associate	15457580, 17297307, 26183163, 28177905, 31173250, 31434359, 35774271, 36123948, 37286944, 37945594, 38637125
Depressive Disorder	Associate	20440596
Diabetes Gestational	Associate	30474315
Dissection Thoracic Aorta	Associate	31751374
Drug Related Side Effects and Adverse Reactions	Inhibit	25256346
Endometrial Neoplasms	Associate	33859719
Esophageal Neoplasms	Associate	19558549, 40598454
Esophageal Squamous Cell Carcinoma	Associate	40598454
Friedreich Ataxia 1	Associate	40432442
Gallbladder Neoplasms	Associate	34655361
Genetic Diseases Inborn	Associate	25411801
Glioblastoma	Associate	18694480
Glioma	Associate	22022424, 37468549
Hereditary Breast and Ovarian Cancer Syndrome	Associate	22759382
Hyperaldosteronism	Associate	35185794
Leukemia Myeloid Acute	Associate	32066746
Leukoplakia Oral	Associate	34704983
Liver Failure	Associate	19664251
Lung Neoplasms	Associate	15070740, 32831194
Lymphatic Metastasis	Stimulate	12970887, 15457580
Lymphatic Metastasis	Associate	30346937
Lymphoma Large B Cell Diffuse	Stimulate	27077767
Mesothelioma Malignant	Associate	24669013, 33800494
Mucositis	Associate	21378598
Multiple Myeloma	Associate	27010134
N syndrome	Associate	12970887
Nasopharyngeal Carcinoma	Associate	35509856
Neoplasm Metastasis	Associate	11572763, 26678934, 35305591
Neoplasms	Associate	11066082, 11572763, 15070740, 15159543, 17456764, 18791270, 19276188, 20034488, 20923822, 22759382, 23454898, 24425774, 25256346, 25483095, 26287798 View all (7 more)
Neoplasms	Inhibit	15457580
Neoplasms	Stimulate	31089242
Neoplasms Germ Cell and Embryonal	Associate	16880791, 17467818
Neuroectodermal Tumors Primitive	Associate	36524840
Osteosarcoma	Associate	29620143, 33153400
Ovarian Neoplasms	Associate	22069160, 26943585, 32180586, 33370338
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	23872305
Prostatic Neoplasms	Associate	35305591
Psoriasis	Associate	36497125
Retinal Dysplasia	Associate	34704983
Seminoma	Associate	17467818
Small Cell Lung Carcinoma	Associate	30346937, 33186389
Smoke Inhalation Injury	Associate	26183163
Stomach Neoplasms	Associate	11572763, 15484292, 20440596, 25483095, 33446695, 34126961
Testicular Germ Cell Tumor	Associate	27315568
Tetraploidy	Associate	18159231
Thyroid Carcinoma Anaplastic	Associate	30213925, 31183379
Thyroid Neoplasms	Associate	31089242
Urinary Bladder Neoplasms	Associate	40598454
Uterine Cervical Neoplasms	Associate	31337953

MAD2L1 (mitotic arrest deficient 2 like 1)