Gene Gene information from NCBI Gene database.
Entrez ID 4085
Gene name Mitotic arrest deficient 2 like 1
Gene symbol MAD2L1
Synonyms (NCBI Gene)
HSMAD2MAD2
Chromosome 4
Chromosome location 4q27
Summary 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
miRNA miRNA information provided by mirtarbase database.
83
miRTarBase ID miRNA Experiments Reference
MIRT004853 hsa-miR-192-5p Luciferase reporter assayqRT-PCRWestern 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
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
BRCA1 Activation 15563594
ETV6 Repression 20190817
POU2F1 Activation 15563594
RUNX1 Repression 20190817
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601467 6763 ENSG00000164109
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 205
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 11572763, 15013707, 15457580, 18699967, 21376419
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 27835911
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 32147961, 35185794, 38053725 Associate
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 27077767
★☆☆☆☆
Found in Text Mining only
Aneuploidy Aneuploidy Pubtator 11066082 Inhibit
★☆☆☆☆
Found in Text Mining only
Aneuploidy Aneuploidy Pubtator 17322345, 18699967, 20034488, 32057913 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 31173250, 32840301 Associate
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 19174606
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Barrett esophagus BEFREE 15013707
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Barrett esophagus LHGDN 15013707
★☆☆☆☆
Found in Text Mining only