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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MAD2L1 Gene

protein-coding GIFtS: 67
GCID: GC04M120980

MAD2 mitotic arrest deficient-like 1 (yeast)

(Previous names: MAD2 (mitotic arrest deficient, yeast, homolog)-like 1...)

Explore 40 diseases affiliated with
MAD2L1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
MAD2 Mitotic Arrest Deficient-Like 1 (Yeast)¹ ²		MAD2-Like Protein 1² ³
MAD2¹ ² ³		Mitotic Arrest Deficient, Yeast, Homolog-Like 1²
HSMAD2¹ ²		Mitotic Spindle Assembly Checkpoint Protein MAD2A²
MAD2 (Mitotic Arrest Deficient, Yeast, Homolog)-Like 1¹ ²		HsMAD2³
Mitotic Arrest Deficient 2-Like Protein 1² ³

External Ids:	HGNC: 6763¹	Entrez Gene: 4085²	Ensembl: ENSG00000164109⁷	OMIM: 601467⁵	UniProtKB: Q13257³

Export aliases for MAD2L1 gene to outside databases

Previous GC identifers: GC04M121738 GC04M121260 GC04M121373 GC04M121439 GC04M121338 GC04M116701

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MAD2L1:

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 been mapped to chromosome 14. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: MD2L1_HUMAN, Q13257

Function: Component of the spindle-assembly checkpoint that prevents the onset of anaphase until all chromosomes are

properly aligned at the metaphase plate. Required for the execution of the mitotic checkpoint which monitors the

process of kinetochore-spindle attachment and inhibits the activity of the anaphase promoting complex by sequestering

CDC20 until all chromosomes are aligned at the metaphase plate

Gene Wiki entry for MAD2L1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000004.11 NC_018915.1 NT_016354.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MAD2L1 gene promoter:
TBP AML1a Egr-1 Olf-1 LUN-1 POU3F2 Evi-1 Egr-2 AREB6 MRF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MAD2L1 promoter sequence

Search SABiosciences Chromatin IP Primers for MAD2L1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MAD2L1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q27 Ensembl cytogenetic band: 4q27 HGNC cytogenetic band: 4q27

MAD2L1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MAD2L1 gene location

GeneLoc information about chromosome 4 GeneLoc Exon Structure

GeneLoc location for GC04M120980: view genomic region (about GC identifiers)

Start:	120,980,577 bp from pter	End:	120,988,229 bp from pter
Size:	7,653 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MD2L1_HUMAN, Q13257 (See protein sequence)

Recommended Name: Mitotic spindle assembly checkpoint protein MAD2A

Size: 205 amino acids; 23510 Da

Subunit: Monomer and homodimer. Heterotetramer with MAD1L1. Formation of a heterotetrameric core complex containing two

molecules each of MAD1L1 and of MAD2L1 promotes binding of another molecule of MAD2L1 to each MAD2L1, resulting in a

heterohexamer. Interacts with CDC20, MAD2L1BP and with ADAM17/TACE. Dimeric MAD2L1 in the closed conformation

interacts with CDC20. Monomeric MAD2L1 in the open conformation does not interact with CDC20. CDC20 competes with

MAD1L1 for MAD2L1 binding. Interacts with TPR. Binds to UBD during mitosis. Interacts with isoform 1 and isoform 2 of

NEK2

Subcellular location: Nucleus. Chromosome, centromere, kinetochore. Cytoplasm. Cytoplasm, cytoskeleton, spindle pole.

Note=Recruited by MAD1L1 to unattached kinetochores (Probable). Recruited to the nuclear pore complex by TPR during

interphase. Recruited to kinetochores in late prometaphase after BUB1, CENPF, BUB1B and CENPE. Kinetochore association

requires the presence of NEK2. Kinetochore association is repressed by UBD

6/8 PDB 3D structures from and Proteopedia for MAD2L1 (see all 8):

1DUJ (3D)

1GO4 (3D)

1KLQ (3D)

1S2H (3D)

2QYF (3D)

2V64 (3D)

Secondary accessions: Q53F56 Q548X9 Q6IRW7

Explore the universe of human proteins at neXtProt for MAD2L1: NX_Q13257

Post-translational modifications:

Phosphorylated on multiple serine residues. The level of phosphorylation varies during the cell cycle and is highest

during mitosis. Phosphorylation abolishes interaction with MAD1L1 and reduces interaction with CDC20. Phosphorylated

by NEK2¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q13257

MAD2L1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_002349.1

ENSEMBL proteins:

ENSP00000296509 ENSP00000332295 ENSP00000425702

Reactome Protein details: Q13257
Human Recombinant Protein Products for MAD2L1:

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	Uscn Proteins for MAD2L1

Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000775	chromosome, centromeric region	--	--
GO:0000776	colocalizes with kinetochore	IDA	19468067
GO:0000777	condensed chromosome kinetochore	IEA	--
GO:0000922	spindle pole	IEA	--
GO:0005634	nucleus	IDA	--

MAD2L1 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for MAD2L1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MAD2L1 for domains About GeneDecksing

1 InterPro domain/family:

IPR003511 HORMA_DNA-bd

Graphical View of Domain Structure for InterPro Entry Q13257

ProtoNet protein and cluster: Q13257

1 Blocks protein family: IPB003511 DNA-binding HORMA

UniProtKB/Swiss-Prot: MD2L1_HUMAN, Q13257

Domain: The protein has two highly different native conformations, an inactive open conformation that cannot bind CDC20

and that predominates in cytosolic monomers, and an active closed conformation. The protein in the closed conformation

preferentially dimerizes with another molecule in the open conformation, but can also form a dimer with a molecule in

the closed conformation. Formation of a heterotetrameric core complex containing two molecules of MAD1L1 and of MAD2L1

in the closed conformation promotes binding of another molecule of MAD2L1 in the open conformation and the conversion

of the open to the closed form, and thereby promotes interaction with CDC20

Similarity: Belongs to the MAD2 family

Similarity: Contains 1 HORMA domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: MD2L1_HUMAN, Q13257

Function: Component of the spindle-assembly checkpoint that prevents the onset of anaphase until all chromosomes are

properly aligned at the metaphase plate. Required for the execution of the mitotic checkpoint which monitors the

process of kinetochore-spindle attachment and inhibits the activity of the anaphase promoting complex by sequestering

CDC20 until all chromosomes are aligned at the metaphase plate

Genatlas biochemistry entry for MAD2L1:

mitotic arrest deficient protein 2-like 1,yeast homolog in the 5q-syndrome region,involved in the cell cycle control at

mitotic spindle assembly checkpoint,preventing the onset of anaphase until all chromosomes are properly aligned at the

metaphase plate

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	10527948
GO:0042803	protein homodimerization activity	IPI	18022367

MAD2L1 for ontologies About GeneDecksing

Phenotypes:
6 GenomeRNAi human phenotypes for MAD2L1:

Decreased number of cells in m	Increased cell death in breast	Increased circadian period len	Increased gamma-H2AX phosphory
Synthetic lethal with Ras	Upregulation of Wnt/beta-caten

7 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Mad2l1):

cellular	embryogenesis	growth/size	hematopoietic system	immune system
mortality/aging	tumorigenesis

MAD2L1 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Mad2l1^tm1Sorg for MAD2L1

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for MAD2L1

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAD2L1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/10 super-pathways (see all 10) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Ubiquitinated Orc1 is degraded by the proteasome

Degradation multiubiquitinated Cyclin A	0.69	Regulation of APC/C activators between G1/S and early anaphase	0.62
Cdc20:Phospho-APC/C mediated degradation of Cyclin A	0.69	Regulation of mitotic cell cycle	0.58
APC/C:Cdc20 mediated degradation of mitotic proteins	0.69	APC/C-mediated degradation of cell cycle proteins	0.58
Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins	0.68	Cell Cycle Checkpoints	0.42

APC-Cdc20 mediated degradation of Nek2A

Degradation of multiubiquitinated Nek2A	1.00	Mitotic Spindle Checkpoint	0.75
APC-Cdc20 mediated degradation of Nek2A	1.00	Amplification of signal from the kinetochores	0.04
Inactivation of APC/C via direct inhibition of the APC/C complex	0.78	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal	0.04
Inhibition of the proteolytic activity of APC/C required for the onset of anaphase by mitotic spindle checkpoint components	0.78

M Phase

M Phase	1.00	Mitotic Anaphase	0.85
Mitotic M-M/G1 phases	0.88	Separation of Sister Chromatids	0.80
Mitotic Metaphase and Anaphase	0.85

Resolution of Sister Chromatid Cohesion

	Resolution of Sister Chromatid Cohesion	1.00			Mitotic Prometaphase	0.93
	Kinetochore assembly	0.96

Cell cycle_Spindle assembly and chromosome separation

Cell cycle_Spindle assembly and chromosome separation

1.00

Cell cycle Spindle assembly and chromosome separation

0.94

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for MAD2L1

	Cell cycle Role of APC in cell cycle regulation
	Cell cycle Spindle assembly and chromosome separation

1 Cell Signaling Technology (CST) Pathway for MAD2L1

Cell Cycle / Checkpoint Control

2 GeneGo (Thomson Reuters) Pathways for MAD2L1

	Cell cycle Role of APC in cell cycle regulation
	Cell cycle Spindle assembly and chromosome separation

1 BioSystems Pathway for MAD2L1

Cell cycle

5/25 Reactome Pathways for MAD2L1 (see all 25)

	Mitotic Prometaphase
	Resolution of Sister Chromatid Cohesion
	APC/C:Cdc20 mediated degradation of mitotic proteins
	Cell Cycle
	M Phase

3 Kegg Pathways (Kegg details for MAD2L1):

	Cell cycle
	Oocyte meiosis
	Progesterone-mediated oocyte maturation

MAD2L1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for MAD2L1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/230 Interacting proteins for MAD2L1 (Q13257^{1, 2, 3} ENSP00000296509⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 230)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SGOL2	Q562F6²^,³	MINT-8212643 MINT-8295741 MINT-8210333 MINT-8211871 MINT-8210370 MINT-8210344 MINT-8210355 MINT-8211862 MINT-8210383 MINT-8212589 MINT-8211761 I2D: score=2
HIST1H4C	P62805³, ENSP00000367034⁴	I2D: score=2 STRING: ENSP00000367034
HIST1H4A	P62805³	I2D: score=2
HIST1H4B	P62805³	I2D: score=2
HIST1H4D	P62805³	I2D: score=2

About this table

Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000070	mitotic sister chromatid segregation	IEA	--
GO:0000075	cell cycle checkpoint	TAS	--
GO:0000087	M phase of mitotic cell cycle	TAS	--
GO:0000236	mitotic prometaphase	TAS	--
GO:0000278	mitotic cell cycle	TAS	--

MAD2L1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

MAD2L1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MAD2L1
6 Novoseek chemical compound relationships for MAD2L1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
nocodazole	71.2	12	14583462 (3), 16112690 (1), 8824189 (1), 12235289 (1) (see all 5)
monastrol	67.3	1	10973989 (1)
paclitaxel	48.3	17	15059905 (4), 18691855 (2), 16075279 (1), 11451998 (1) (see all 6)
cisplatin	24.2	15	16880791 (6), 15735033 (5), 18691855 (1)
vincristine	0.0741	1	12527913 (1)
serine	0	5	12574116 (2), 20034488 (1)

Search CenterWatch for drugs/clinical trials and news about MAD2L1 / MD2L1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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About This Section

REFSEQ mRNAs for MAD2L1 gene:

NM_002358.3

Unigene Cluster for MAD2L1:

MAD2 mitotic arrest deficient-like 1 (yeast)

Hs.591697 [show with all ESTs]

Unigene Representative Sequence: NM_002358

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000296509(uc003idl.2 uc003idm.2) ENST00000333047 ENST00000512484

ENST00000504707 ENST00000511295

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Additional cDNA sequence:

AF394735.1 AJ000186.1 AK223433.1 AK298228.1 AK313827.1 BC000356.2 BC005945.1 BC070283.1

8 DOTS entries:

DT.315367 DT.91760226 DT.100803604 DT.100803606 DT.95272195 DT.95142518 DT.95272196 DT.100761812

24/225 AceView cDNA sequences (see all 225):

BX092337 Z39800 BG527529 BU509241 BF219704 BQ440642 AA749451 BE270292

BF305710 BQ223232 AI918545 AW771087 CA430932 CR605286 BP370349 AF394735

AI250233 BQ959603 AJ000186 BM726304 CA489522 CA429116 AI686723 BQ428342

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MAD2L1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGTTTTATAA

About this image

MAD2L1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Ovary

Primary Follicle

Primary Oocyte

Female Gametocytes, Germ Cells

Heart

Myocardium

Cardiac Fibroblasts

Epicardium

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

PureStem™ progenitor E44 (Embryonic Progenitor Cell)

See MAD2L1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MAD2L1

SOURCE GeneReport for Unigene cluster: Hs.591697

SABiosciences Expression via Pathway-Focused PCR Array including MAD2L1:

Cell Cycle in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAD2L1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for MAD2L1 gene from 10/34 species (see all 34) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Mad2l1^{1 , 5}	MAD2 mitotic arrest deficient-like 1 (yeast)⁵ MAD2 mitotic arrest deficient-like 1¹	88.29(n)¹ 94.15(a)¹		6 (30.56 cM)⁵ 56150¹ NM_019499.4¹ NP_062372.2¹ 66535390⁵
chicken (Gallus gallus)	Aves	MAD2L1¹	MAD2 mitotic arrest deficient-like 1 (yeast)	77.67(n) 89.5(a)		422675 XM_420629.3 XP_420629.1
lizard (Anolis carolinensis)	Reptilia	MAD2L1⁶	--	83(a)	1 ↔ 1	5(139791612-139797320)
African clawed frog (Xenopus laevis)	Amphibia	Xl.29023²	Xenopus laevis transcribed sequence with moderate similarity more	77.92(n)		BU915284.1
zebrafish (Danio rerio)	Actinopterygii	mad2l1¹	MAD2 mitotic arrest deficient-like 1 (yeast)	71.53(n) 78.12(a)		550434 NM_001017739.1 NP_001017739.1
fruit fly (Drosophila melanogaster)	Insecta	CG17498³ mad2¹	mitotic spindle checkpoint³ CG17498-PA¹	46(a)³ 53.93(n)¹ 47.12(a)¹		38656¹ NM_139734.2¹ NP_647991.1¹
worm (Caenorhabditis elegans)	Secernentea	mdf-2^{1 , 3}	Expression: germ cells, embryo, L1 larva, L2 larva, more³ Protein MDF-2¹	52(a)³ 57.34(n)¹ 52.85(a)¹		177046¹ NM_001028392.4¹ NP_001023563.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	MAD2(YJL030W)⁴ MAD2¹	Component of the spindle-assembly checkpoint complex; more⁴ Mad2p¹	50.71(n)¹ 45.21(a)¹		10(387657-388247)⁴ 853422^{1, 4} NP_012504.3¹ NP_012504.1⁴
thale cress (Arabidopsis thaliana)	eudicotyledons	MAD2¹	mitotic spindle checkpoint protein MAD2	54.21(n) 47.37(a)		822195 NM_113502.3 NP_189227.1
rice (Oryza sativa)	Liliopsida	Os04g0486500¹	hypothetical protein	50.91(n) 46.77(a)		4336215 NM_001059673.1 NP_001053138.1

ENSEMBL Gene Tree for MAD2L1 (if available)
TreeFam Gene Tree for MAD2L1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for MAD2L1 gene

MAD2L1 for paralogs About GeneDecksing

4 Pseudogenes.org Pseudogenes for MAD2L1
PGOHUM00000258795 PGOHUM00000248940 PGOHUM00000234658 PGOHUM00000243850

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 4 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28538838^1,2	C,F	--	120980087(+)	`AATAAG/ACATTA`	1	--	ds500¹		11		NA WA CSA EA	373
rs28616785^1,2	C,F,H	--	120980212(+)	`GTACCA/GGATGA`	1	--	ds500¹		19		NS EA NA WA CSA	1994
rs147540277^1,2		--	120980240(+)	`CAGGAA/GTAAGC`	1	--	ds500¹		0	--	--	--	--
rs139394927^1,2		--	120980247(+)	`AAGCAC/TAGTAT`	1	--	ds500¹		0	--	--	--	--
rs183680122^1,2		--	120980279(+)	`GGCTGA/GCAATA`	1	--	ds500¹		0	--	--	--	--
rs150055759^1,2		--	120980446(+)	`ATTGAA/GGACAC`	1	--	ds500¹		0	--	--	--	--
rs187940971^1,2		--	120980631(+)	`TAAAAC/GTTGAT`	1	--	ut3¹		0	--	--	--	--
rs199889773^1,2		--	120980650(+)	`ACACA-/TGAAAAA`	1	--	ut3¹		0	--	--	--	--
rs190679989^1,2		--	120981034(+)	`TGACAA/GAAAAA`	1	--	ut3¹		0	--	--	--	--
rs182761177^1,2		--	120981127(+)	`AGGAAA/CAATTA`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for MAD2L1 (120980577 - 120988229 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for MAD2L1: --
Human Gene Mutation Database (HGMD): MAD2L1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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MAD2L1 for disorders           About GeneDecksing

OMIM gene information: 601467    OMIM disorders: --

20/40 diseases for MAD2L1 (see all 40):    About MalaCards

marginal zone b-cell lymphoma human t-cell leukemia virus type 1 adenomatous polyposis coli b-cell lymphomas

testicular germ cell tumor soft tissue sarcoma germ cell tumor spontaneous abortion

familial renal cell carcinoma renal cell carcinoma alcohol dependence ulcerative colitis

familial breast cancer squamous cell carcinoma anoxia polyposis

hepatocellular carcinoma ovarian carcinoma t-cell leukemia breast cancer

10/13 Novoseek disease relationships for MAD2L1 gene (see all 13) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cancer	38.2	28	12527913 (3), 18691855 (3), 19461085 (2), 16880791 (2) (see all 12)
gastric cancer	23.8	33	19461085 (5), 15484292 (4), 20440596 (4), 16112690 (3) (see all 6)
nasopharyngeal carcinoma	20.5	4	12527913 (1), 11133821 (1), 15735033 (1)
hepatocellular carcinoma	17.3	13	18715617 (4), 15574775 (1)
tumors	16.5	23	15070740 (3), 18477210 (3), 17333263 (2), 15254432 (2) (see all 10)
retinoblastoma	12.4	2	17456764 (1)
colorectal cancer	3.66	8	15457580 (3), 12970887 (3), 17297307 (1)
ovarian carcinoma	1.01	1	17234259 (1)
cancer lung	0	1	10439037 (1)
chromosomal aberrations	0	1	17333263 (1)

Human Genome Epidemiology (HuGE) Navigator: MAD2L1 (5 documents)

Export disorders for MAD2L1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for MAD2L1 gene, integrated from 9 sources (see all 253):
(articles sorted by number of sources associating them with MAD2L1)

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Identification of a human mitotic checkpoint gene: hsMAD2. (PubMed id 8824189)^{1, 2, 3, 9} Li Y. and Benezra R. (1996)
Insights into mad2 regulation in the spindle checkpoint revealed by the crystal structure of the symmetric mad2 dimer. (PubMed id 18318601)^{1, 2, 9} Yang M....Luo X. (2008)
p31comet blocks Mad2 activation through structural mimicry. (PubMed id 18022368)^{1, 2, 9} Yang M.... Luo X. (2007)
Mad2 phosphorylation regulates its association with Mad1 and the APC/C. (PubMed id 12574116)^{1, 2, 9} Wassmann K....Benezra R. (2003)
The Mad2 spindle checkpoint protein undergoes similar major conformational changes upon binding to either Mad1 or Cdc20. (PubMed id 11804586)^{1, 2, 9} Luo X.... Yu H. (2002)
The Mad2 spindle checkpoint protein has two distinct natively folded states. (PubMed id 15024386)^{1, 2, 9} Luo X....Yu H. (2004)
The Mad2 conformational dimer: structure and implications for the spindle assembly checkpoint. (PubMed id 18022367)^{1, 2, 9} Mapelli M.... Musacchio A. (2007)
Crystal structure of the tetrameric Mad1-Mad2 core complex: implications of a 'safety belt' binding mechanism for the spindle checkpoint. (PubMed id 12006501)^{1, 2, 9} Sironi L....Musacchio A. (2002)
Evidence for an interaction of the metalloprotease-disintegrin tumour necrosis factor alpha convertase (TACE) with mitotic arrest deficient 2 (MAD2), and of the metalloprotease-disintegrin MDC9 with a novel MAD2-related protein, MAD2-beta. (PubMed id 10527948)^{1, 2, 9} Nelson K.K.... Blobel C.P. (1999)
Perturbation of the chromosomal binding of RCC1, Mad2 and survivin causes spindle assembly defects and mitotic catastrophe. (PubMed id 18712773)^{1, 2, 9} Ho C.-Y.... Li H.-Y. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 4085	HGNC: 6763	AceView: MAD2L1	Ensembl:ENSG00000164109	euGenes: HUgn4085
ECgene: MAD2L1	Kegg: 4085	H-InvDB: MAD2L1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for MAD2L1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for MAD2L1	Genetics and Cytogenetics in Oncology and Haematology

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MAD2 mitotic arrest deficient-like 1 (yeast)

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MAD2 mitotic arrest deficient-like 1 (yeast)

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