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MAD2L2 Gene

protein-coding   GIFtS: 62

GC01M011668
MAD2 mitotic arrest deficient-like 2 (yeast)
(Previous names: MAD2 (mitotic arrest deficient, yeast, homolog)-like 2 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
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Aliases &
Descriptions
for MAD2L2

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases
MAD2B 1, 2, 3, 5
OTTHUMP00000002273 2
OTTHUMP00000002275 2
REV7 1, 2, 3
hREV7 3
Descriptions
MAD2 (mitotic arrest deficient, yeast, homolog)-like 2 1, 2
MAD2 homolog 2
MAD2 mitotic arrest deficient-like 2 (yeast) 2
MAD2-like 2 3
mitotic arrest deficient homolog-like 2 2
External Ids
HGNC: 67641
Entrez Gene: 104592
UniProtKB: Q9UI953
Ensembl: ENSG000001166707
Search outside databases for aliases for MAD2L2 gene

Previous GC identifers: GC01M011695 GC01M011578 GC01M011343 GC01M011444

Summaries
for MAD2L2

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

 EntrezGene summary for MAD2L2:
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 of interacting with ADAM9, ADAM15,
REV1, and REV3 proteins. [provided by RefSeq]

Gene Wiki entry for MAD2L2

Genomic Location
for MAD2L2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

 Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the MAD2L2 gene  

Entrez Gene cytogenetic band: 1p36   Ensembl cytogenetic band:  1p36.22   HGNC cytogenetic band: 1p36

MAD2L2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M011668:     (about GC identifiers)

Start:
 11,657,124 bp from pter
End:
 11,674,294 bp from pter
Size:
 17,171 bases
Orientation:
 minus strand
RefSeq DNA sequence:
NC_000001.9  NT_021937.18  

Proteins
for MAD2L2

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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 UniProtKB/Swiss-Prot: MD2L2_HUMAN, Q9UI95 (See protein sequence)
Recommended Name: Mitotic spindle assembly checkpoint protein MAD2B  
Size: 211 amino acids; 24334 Da
Subunit: Binds REV1L (By similarity). Interacts with REV3 and with ADAM9 (MDC9)
Secondary accessions: Q5TGW7 Q9UNA7 Q9Y6I6

REFSEQ proteins (2 alternative transcripts): 
NP_001120797.1  NP_006332.3  


ENSEMBL proteins: 
ENSP00000365843 ENSP00000365852 ENSP00000365855 ENSP00000365860 ENSP00000235310 ENSP00000365857 
ENSP00000365882 


Human Recombinant Proteins 
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Recombinant Proteins from Abcam (Mad2L2)
Human Recombinant Proteins from Abnova (MAD2L2)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 


Antibodies for MAD2L2: 
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Novus Biologicals Antibody for MAD2L2

Assays for MAD2L2: 
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Protein Domains/
Families
for MAD2L2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro domain/family:
 IPR003511 HORMA_DNA_bd


   GeneDecks  MAD2L2 for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry Q9UI95

ProtoNet protein and cluster: Q9UI95

1 Blocks protein family: IPB003511 DNA-binding HORMA

UniProtKB/Swiss-Prot: MD2L2_HUMAN, Q9UI95
Similarity: Contains 1 HORMA domain

Gene Function
for MAD2L2

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib.
RNA:		Invitrogen RNAi Products for gene knock-down (MAD2L2)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_006341

              Applied Biosystems Silencer® siRNAs for MAD2L2

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Clones:Invitrogen Clones for MAD2L2
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001127325
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001127325
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_001127325 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_006341

Genatlas biochemistry entry for MAD2L2:
mitotic arrest deficient protein 2-like 2,yeast homolog,component of the mitotic spindle assembly
checkpoint,preventing the onset of anaphase until all chromosomes are properly aligned at the
metaphase plate

1 Gene Ontology (GO) molecular function term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005515 protein binding IPI11485998
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Pathways & Interactions
for MAD2L2

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

1 Invitrogen iPath™ Online BioAtlas - Pathway for MAD2L2 (Maps provided by GeneGo):
 Anaphase promoting complex (APC) Regulation

   GeneDecks  MAD2L2 for the pathways selected above  
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1 Millipore Pathway for MAD2L2
 Cell cycle Role of APC in cell cycle regulation

   GeneDecks  MAD2L2 for the pathways selected above  
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2 Sigma-Aldrich "Your Favorite Gene" Pathways for  MAD2L2  (Your Favorite Gene powered by Ingenuity) 
 Pyrimidine Metabolism
 Purine Metabolism

   GeneDecks  MAD2L2 for the pathways selected above  
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1 Kegg Pathway  (Kegg details for MAD2L2):
 hsa04110 Cell cycle

   GeneDecks  MAD2L2 for the pathways selected above  
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 Gene Network CentralTM Interacting Genes and Proteins Network for  MAD2L2 


5/31 Interacting proteins for MAD2L2 (ENSP000003658603 Q9UI951, 2) via UniProtKB, MINT, and/or STRING (see all 31 )
InteractantInteraction Details
GeneCardExternal ID(s)
ENSG00000206318P486341, 2EBI-77889, EBI-347545 MINT-62729 MINT-62805 MINT-62631
ENSG00000206427P486341, 2EBI-77889, EBI-347545 MINT-62729 MINT-62805 MINT-62631
CDC20Q128341STRING (score=.996) EBI-77889, EBI-367462
CDC27P302601STRING (score=.92) EBI-77889, EBI-994813
BAT2P486341, 2EBI-77889, EBI-347545 MINT-62729 MINT-62805 MINT-62631 EBI-77889, EBI-347545 MINT-62729 MINT-62805 MINT-62631
About this table

4 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0007049 cell cycle IEA--
GO:0007067 mitosis NAS10366450
GO:0007094 mitotic cell cycle spindle assembly checkpoint TAS10366450
GO:0051301 cell division IEA--
About this table

Drugs & Compounds
for MAD2L2

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for MAD2L2

Transcripts
for MAD2L2

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section
Inhib.
RNA:		Invitrogen RNAi Products for gene knock-down (MAD2L2)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_006341

              Sigma-Aldrich siRNA for MAD2L2  
                     Sigma-Aldrich shRNA Panels and shRNA for MAD2L2  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_001127325  NM_006341  

REFSEQ mRNAs for MAD2L2 gene (2 alternative transcripts): 

NM_001127325.1   NM_006341.3   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_001127325  NM_006341  

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001127325
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001127325
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_001127325 

Additional cDNA sequence: 

AF072933.1 AF080398.1 AF139365.1 AF157482.1 AK027327.1 AK094316.1 BC015244.1 CR604773.1 
CR612866.1 CR626073.1 

8 DOTS entries:

DT.443868  DT.86847012  DT.97839435  DT.97845161  DT.97845160  DT.121397208  DT.121397233  DT.91765968 

24/198 AceView cDNA sequences (see all 198 ):

BM739532 BG060101 BQ959482 BC015244 BE268098 BQ943074 BP369153 BM907198 
BM847429 BU148851 BM559475 BQ933191 CR612866 CK823130 CF528514 BM841256 
BX283956 BQ645664 BG475237 AA773444 BQ219144 CR604773 AI636880 AU102348 

highest scoring ESTs for MAD2L2:

AA079559 AA293812 AA662845 AF139365 AF157482 AK027327 AK094316 AU100375 AW404542 BE267962 

Unigene Cluster for MAD2L2:

MAD2 mitotic arrest deficient-like 2 (yeast)
Hs.19400  [show with all ESTs]
Unigene Representative Sequence: AK094316


GeneLoc Exon Structure

5/7 Alternative Splicing Database (ASD) splice patterns (SP) for MAD2L2 (see all 7 )

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b
SP1:                                -                                   -                                                   
SP2:              -     -     -     -                                   -                                                   
SP3:                                -                                   -                                                   
SP4:                                -                                   -                                                   
SP5:                                                                                                                        

About this scheme

ECgene alternative splicing isoforms for MAD2L2

7 Ensembl transcripts including schematic representations:
ENST00000376655  ENST00000376664  ENST00000376667  ENST00000376672  ENST00000235310  ENST00000376669  
ENST00000376692  

Expression
for MAD2L2

(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

MAD2L2 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for MAD2L2

1 / 2 / 3

3 probe-sets matching MAD2L2 gene


Affymetrix
probe-set		 Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

56235_at2, 3 U95-B 1 0.94 1.00 1.00 1.00 AA662845 0.80 1.00 0.91 1

223234_at2, 3 U133-B 1 1.00 1.00 -- -- AF080398 0.60 1.00 0.82 1

223234_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
About this table
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: GCTGCCCTGA

SOURCE GeneReport for Unigene cluster: Hs.19400

Orthologs
for MAD2L2

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section
Orthologs for MAD2L2 gene from 5/10 species (see all 10 )
Organism Gene Locus Description Human
Similarity		 NCBI accessions
dog
(Canis familiaris)		 MAD2L21   -- MAD2 mitotic arrest deficient-like 2 (yeast) 93.07(n)
98.88(a)		 487443  XM_544568.2  XP_544568.2 
chimpanzee
(Pan troglodytes)		 MAD2L21   -- MAD2 mitotic arrest deficient-like 2 (yeast) 99.05(n)
99.53(a)		 457953  XM_001138490.1  XP_001138490.1 
cow
(Bos taurus)		 MAD2L21   -- MAD2 mitotic arrest deficient-like 2 (yeast) 91.63(n)
98.58(a)		 506605  NM_001045946.1  NP_001039411.1 
mouse
(Mus musculus)		 Mad2l21, 5 45
 MAD2 mitotic arrest deficient-like 2 (yeast)1, 5 89.1(n)1
98.1(a)1		 718901  NM_027985.21  NP_082261.21 
 AK0095875  AK1502165  (see all 10)
chicken
(Gallus gallus)		 MAD2L21   -- MAD2 mitotic arrest deficient-like 2 (yeast) 82.15(n)
96.21(a)		 419493  NM_001025578.1  NP_001020749.1 
About this table        Species with no ortholog for MAD2L2

ENSEMBL Gene Tree for MAD2L2

Paralogs
for MAD2L2

(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

  --

SNPs/Variants
for MAD2L2

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/87 NCBI SNPs in MAD2L2 are shown (see all 87 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 75)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 1 posSequenceRecsAA
Chg		TypeMoreRecsAllele
freq		PopTotal
sample		More
------------
rs22330041,2
A,C,F,H11664661(-) TTTTAA/GTAATA 1 -- ng31 spl310Minor allele frequency- G:0.10EU EA WA NS 756
rs7462181,2
A,C,F,H11665711(+) AGGCAG/ATGGCA 1 -- ng316Minor allele frequency- A:0.11EA EU WA 2080
--
rs22729781,2
A,C,F11663891(-) CCGCAT/GGCGGA 1 -- ng31 ese37Minor allele frequency- G:0.18MN EA NS 530
rs22330061,2
C,F,H11664383(-) CAAAAA/TGGTCA 1 -- ng3114Minor allele frequency- T:0.35NS EU EA WA 1200
--
rs37538581,2
C,F11664786(+) TGGTTA/TAACAG 1 -- ng315Minor allele frequency- T:0.01NS 188
rs22330111,2
C,F11664093(-) CCCCGT/GCCCTC 1 -- ng317Minor allele frequency- G:0.19MN EA NS 550
rs22330071,2
C,F11664300(-) CCGGTG/CGGGGC 1 -- ng315Minor allele frequency- C:0.01NS 184
rs22729791,2
C,F11663868(-) GAGGCC/TCGGTT 1 -- ng31 ese36Minor allele frequency- T:0.02EA NS 1640
--
rs120682701,2
C,F11665174(+) CCATTA/GAGCTA 1 -- ng315Minor allele frequency- G:0.03NS 188
rs289240921,2
F11664890(-) AAGGGG/AGCTGT 1 -- ng315Minor allele frequency- A:0.01NS 190
About this table

HapMap Linkage Disequilibrium images for MAD2L2 (up to first 250kb)

Disorders & Mutations
for MAD2L2

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

 OMIM: 604094

4 Novoseek disease relationships for MAD2L2 gene

Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
colorectal tumors 53.73 1 17044027 (1)
carcinoma renal cell 39.37 2 17333263 (1)
cancer 18.30 1 17044027 (1)
tumors 10.86 17 17044027 (3), 17333263 (2), 10660610 (1)
About this table

Human Genome Epidemiology Navigator: MAD2L2 (2 documents)

Medical News
for MAD2L2

(Possibly Related Articles in Doctor's Guide)
About This Section

   --

Publications
for MAD2L2

(in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
About This Section

10/30 PubMed articles for MAD2L2 gene (see all 30 ):

Search for MAD2L2

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

 ANDOR
Aliases
Free Text  
  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

Genome Databases showing MAD2L2

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section
Entrez Gene: 10459 HGNC: 6764 AceView: MAD2L2 Ensembl:ENSG00000116670 euGenes: HUgn10459
ECgene: MAD2L2 H-InvDB: MAD2L2

Other Databases showing MAD2L2

(According to HUGE)
About This Section

   --

Specialized Databases showing MAD2L2

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
ATLAS Chromosomes in Cancer entry for MAD2L2 Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPshttp://egp.gs.washington.edu/data/mad2l2/

Licensable Technologies
for MAD2L2

(Available from WIS Yeda, Salk, Tufts)
About This Section

  --

Services
for MAD2L2

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section



Products for MAD2L2:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



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 Antibodies for MAD2L2

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