mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for MAD2L2
Gene summary
Basic gene Info.Gene symbolMAD2L2
Gene nameMAD2 mitotic arrest deficient-like 2 (yeast)
SynonymsMAD2B|POLZ2|REV7
CytomapUCSC genome browser: 1p36
Type of geneprotein-coding
RefGenesNM_001127325.1,
NM_006341.3,
DescriptionMAD2 (mitotic arrest deficient, yeast, homolog)-like 2MAD2-like protein 2REV7 homologhREV7mitotic arrest deficient 2-like protein 2mitotic arrest deficient homolog-like 2mitotic spindle assembly checkpoint protein MAD2Bpolymerase (DNA-directed), ze
Modification date20141207
dbXrefs MIM : 604094
HGNC : HGNC
Ensembl : ENSG00000116670
HPRD : 07246
Vega : OTTHUMG00000002231
ProteinUniProt: Q9UI95
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_MAD2L2
BioGPS: 10459
PathwayNCI Pathway Interaction Database: MAD2L2
KEGG: MAD2L2
REACTOME: MAD2L2
Pathway Commons: MAD2L2
ContextiHOP: MAD2L2
ligand binding site mutation search in PubMed: MAD2L2
UCL Cancer Institute: MAD2L2
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0000122negative regulation of transcription from RNA polymerase II promoter19443654
GO:0033138positive regulation of peptidyl-serine phosphorylation17296730
GO:0042177negative regulation of protein catabolic process11459826
GO:0042772DNA damage response, signal transduction resulting in transcription17296730
GO:0043433negative regulation of sequence-specific DNA binding transcription factor activity19443654
GO:0060564negative regulation of mitotic anaphase-promoting complex activity11459826


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Ligand binding site mutations for MAD2L2

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
W171W171CCOAD1
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.


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Protein structure related information for MAD2L2
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
W171W171C-0.02946786
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for MAD2L2 from PDB

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Differential gene expression and gene-gene network for MAD2L2
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of MAD2L2 and the right PPI network was created from samples without mutations in the LBS of MAD2L2. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for MAD2L2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for MAD2L2
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of MAD2L2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IIIPeptide ligand (THR,ALA,ASN,ILE,LEU,LYS,PRO,LEU,MET,SER,PRO,PRO,SER,ARG,GLU,GLU,ILE,MET,ALA,THR,LEU)3abdAW171
IIIPeptide ligand (THR,ALA,ASN,ILE,LEU,LYS,PRO,LEU,MET,SER,PRO,PRO,SER,ARG,GLU,GLU,ILE,MET,ALA,THR,LEU,LEU)3abdBW171
IIIPeptide ligand (ALA,ASN,ILE,LEU,LYS,PRO,LEU,MET,SER,PRO,PRO,SER,ARG,GLU,GLU,ILE,MET,ALA,THR,LEU,LEU)3abeCW171
IIIPeptide ligand (ARG,THR,ALA,ASN,ILE,LEU,LYS,PRO,LEU,MET,SER,PRO,PRO,SER,ARG,GLU,GLU,ILE,MET,ALA,THR)3vu7CW171
IIIPeptide ligand (THR,ALA,ASN,ILE,LEU,LYS,PRO,LEU,MET,SER,PRO,PRO,SER,ARG,GLU,GLU,ILE,MET,ALA,THR)4gk0AW171
IIIPeptide ligand (THR,ALA,ASN,ILE,LEU,LYS,PRO,LEU,MET,SER,PRO,PRO,SER,ARG,GLU,GLU,ILE,MET,ALA,THR)4gk0BW171
IIIPeptide ligand (THR,ALA,ASN,ILE,LEU,LYS,PRO,LEU,MET,SER,PRO,PRO,SER,ARG,GLU,GLU,ILE,MET,ALA,THR)4gk5AW171
IIIPeptide ligand (THR,ALA,ASN,ILE,LEU,LYS,PRO,LEU,MET,SER,PRO,PRO,SER,ARG,GLU,GLU,ILE,MET,ALA,THR)4gk5BW171
IIIPeptide ligand (ARG,THR,ALA,ASN,ILE,LEU,LYS,PRO,LEU,MET,SER,PRO,PRO,SER,ARG,GLU,GLU,ILE,MET,ALA,THR,LEU,LEU)4extCW171


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Conservation information for LBS of MAD2L2
Multiple alignments for Q9UI95 in multiple species
LBSAA sequence# speciesSpecies
A155VHTREAATRNM6Homo sapiens, Danio rerio, Xenopus tropicalis, Gallus gallus, Mus musculus, Bos taurus
A155AY-----LRSL1Arabidopsis thaliana
A156HTREAATRNME6Homo sapiens, Danio rerio, Xenopus tropicalis, Gallus gallus, Mus musculus, Bos taurus
A156Y-----LRSLP1Arabidopsis thaliana
A174FPWILADEQDV5Homo sapiens, Xenopus tropicalis, Gallus gallus, Mus musculus, Bos taurus
A174AELWIPTDTKQ1Arabidopsis thaliana
A174FPWIVADEQEV1Danio rerio
C144HNPPGCTFTVL3Homo sapiens, Mus musculus, Bos taurus
C144PLPLNCRWEVT1Arabidopsis thaliana
C144SNPPGCTFTVL1Danio rerio
C144NNPPGCTFTLL1Xenopus tropicalis
C144NNPPGCTFTVL1Gallus gallus
D178LADEQDVHMHD4Homo sapiens, Gallus gallus, Mus musculus, Bos taurus
D178IPTDTKQWQNP1Arabidopsis thaliana
D178VADEQEVHMEE1Danio rerio
D178LADEQDVHMQE1Xenopus tropicalis
E154LVHTREAATRN6Homo sapiens, Danio rerio, Xenopus tropicalis, Gallus gallus, Mus musculus, Bos taurus
E154TAY-----LRS1Arabidopsis thaliana
E35ILYVREVYPVG3Homo sapiens, Mus musculus, Bos taurus
E35ILYVREVYPIG2Xenopus tropicalis, Gallus gallus
E35IVYLKGFYPSA1Arabidopsis thaliana
E35ILYVRDIYPSG1Danio rerio
E59MSCHPELNQYI4Homo sapiens, Gallus gallus, Mus musculus, Bos taurus
E59RARHPELRDYI1Arabidopsis thaliana
E59MSCHPQLNQYI1Danio rerio
E59MSCHPELNRYI1Xenopus tropicalis
F146PPGCTFTVLVH5Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Bos taurus
F146PLNCRWEVTAY1Arabidopsis thaliana
F146PPGCTFTLLVH1Xenopus tropicalis
F169QVIKDFPWILA5Homo sapiens, Xenopus tropicalis, Gallus gallus, Mus musculus, Bos taurus
F169GSSKEAELWIP1Arabidopsis thaliana
F169QVIKDFPWIVA1Danio rerio
G143DHNPPGCTFTV3Homo sapiens, Mus musculus, Bos taurus
G143KPLPLNCRWEV1Arabidopsis thaliana
G143DSNPPGCTFTV1Danio rerio
G143DNNPPGCTFTL1Xenopus tropicalis
G143DNNPPGCTFTV1Gallus gallus
G40EVYPVGIFQKR3Homo sapiens, Mus musculus, Bos taurus
G40EVYPIGIFQKR2Xenopus tropicalis, Gallus gallus
G40GFYPSAAFERR1Arabidopsis thaliana
G40DIYPSGIFQKR1Danio rerio
H151FTVLVHTREAA5Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Bos taurus
H151WEVTAY-----1Arabidopsis thaliana
H151FTLLVHTREAA1Xenopus tropicalis
H57VQMSCHPELNQ4Homo sapiens, Gallus gallus, Mus musculus, Bos taurus
H57VQRARHPELRD1Arabidopsis thaliana
H57VQMSCHPQLNQ1Danio rerio
H57VQMSCHPELNR1Xenopus tropicalis
I163RNMEKIQVIKD5Homo sapiens, Xenopus tropicalis, Gallus gallus, Mus musculus, Bos taurus
I163RSLPQVGSSKE1Arabidopsis thaliana
I163RNMEKVQVIKD1Danio rerio
I172KDFPWILADEQ5Homo sapiens, Xenopus tropicalis, Gallus gallus, Mus musculus, Bos taurus
I172KEAELWIPTDT1Arabidopsis thaliana
I172KDFPWIVADEQ1Danio rerio
I41VYPVGIFQKRK3Homo sapiens, Mus musculus, Bos taurus
I41VYPIGIFQKRK2Xenopus tropicalis, Gallus gallus
I41FYPSAAFERRR1Arabidopsis thaliana
I41IYPSGIFQKRQ1Danio rerio
L149CTFTVLVHTRE5Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Bos taurus
L149CRWEVTAY---1Arabidopsis thaliana
L149CTFTLLVHTRE1Xenopus tropicalis
L173DFPWILADEQD5Homo sapiens, Xenopus tropicalis, Gallus gallus, Mus musculus, Bos taurus
L173EAELWIPTDTK1Arabidopsis thaliana
L173DFPWIVADEQE1Danio rerio
L60SCHPELNQYIQ4Homo sapiens, Gallus gallus, Mus musculus, Bos taurus
L60ARHPELRDYIH1Arabidopsis thaliana
L60SCHPQLNQYIQ1Danio rerio
L60SCHPELNRYIQ1Xenopus tropicalis
M160AATRNMEKIQV5Homo sapiens, Xenopus tropicalis, Gallus gallus, Mus musculus, Bos taurus
M160--LRSLPQVGS1Arabidopsis thaliana
M160AATRNMEKVQV1Danio rerio
P142LDHNPPGCTFT3Homo sapiens, Mus musculus, Bos taurus
P142LDNNPPGCTFT2Xenopus tropicalis, Gallus gallus
P142VKPLPLNCRWE1Arabidopsis thaliana
P142LDSNPPGCTFT1Danio rerio
P170VIKDFPWILAD5Homo sapiens, Xenopus tropicalis, Gallus gallus, Mus musculus, Bos taurus
P170SSKEAELWIPT1Arabidopsis thaliana
P170VIKDFPWIVAD1Danio rerio
P38VREVYPVGIFQ3Homo sapiens, Mus musculus, Bos taurus
P38VREVYPIGIFQ2Xenopus tropicalis, Gallus gallus
P38LKGFYPSAAFE1Arabidopsis thaliana
P38VRDIYPSGIFQ1Danio rerio
T147PGCTFTVLVHT5Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Bos taurus
T147LNCRWEVTAY-1Arabidopsis thaliana
T147PGCTFTLLVHT1Xenopus tropicalis
T152TVLVHTREAAT5Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Bos taurus
T152EVTAY-----L1Arabidopsis thaliana
T152TLLVHTREAAT1Xenopus tropicalis
V148GCTFTVLVHTR5Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Bos taurus
V148NCRWEVTAY--1Arabidopsis thaliana
V148GCTFTLLVHTR1Xenopus tropicalis
V150TFTVLVHTREA5Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Bos taurus
V150RWEVTAY----1Arabidopsis thaliana
V150TFTLLVHTREA1Xenopus tropicalis
V179ADEQDVHMHDP4Homo sapiens, Gallus gallus, Mus musculus, Bos taurus
V179PTDTKQWQNPP1Arabidopsis thaliana
V179ADEQEVHMEEA1Danio rerio
V179ADEQDVHMQEP1Xenopus tropicalis
V36LYVREVYPVGI3Homo sapiens, Mus musculus, Bos taurus
V36LYVREVYPIGI2Xenopus tropicalis, Gallus gallus
V36VYLKGFYPSAA1Arabidopsis thaliana
V36LYVRDIYPSGI1Danio rerio
W171IKDFPWILADE5Homo sapiens, Xenopus tropicalis, Gallus gallus, Mus musculus, Bos taurus
W171SKEAELWIPTD1Arabidopsis thaliana
W171IKDFPWIVADE1Danio rerio
Y37YVREVYPVGIF3Homo sapiens, Mus musculus, Bos taurus
Y37YVREVYPIGIF2Xenopus tropicalis, Gallus gallus
Y37YLKGFYPSAAF1Arabidopsis thaliana
Y37YVRDIYPSGIF1Danio rerio
Y63PELNQYIQDTL4Homo sapiens, Gallus gallus, Mus musculus, Bos taurus
Y63PELRDYIHSAA1Arabidopsis thaliana
Y63PQLNQYIQDTL1Danio rerio
Y63PELNRYIQDTL1Xenopus tropicalis


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