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 APOA2
Gene summary
Basic gene Info.Gene symbolAPOA2
Gene nameapolipoprotein A-II
SynonymsApo-AII|ApoA-II|apoAII
CytomapUCSC genome browser: 1q23.3
Type of geneprotein-coding
RefGenesNM_001643.1,
Descriptionapolipoprotein A2
Modification date20141207
dbXrefs MIM : 107670
HGNC : HGNC
Ensembl : ENSG00000158874
HPRD : 00129
Vega : OTTHUMG00000034346
ProteinUniProt: P02652
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_APOA2
BioGPS: 336
PathwayNCI Pathway Interaction Database: APOA2
KEGG: APOA2
REACTOME: APOA2
Pathway Commons: APOA2
ContextiHOP: APOA2
ligand binding site mutation search in PubMed: APOA2
UCL Cancer Institute: APOA2
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:0002740negative regulation of cytokine secretion involved in immune response12458630
GO:0006457protein folding14967812
GO:0006656phosphatidylcholine biosynthetic process14967812
GO:0009395phospholipid catabolic process14967812
GO:0009749response to glucose14988251
GO:0010873positive regulation of cholesterol esterification14967812
GO:0010903negative regulation of very-low-density lipoprotein particle remodeling14967812
GO:0018158protein oxidation12576517
GO:0018206peptidyl-methionine modification12576517
GO:0031647regulation of protein stability14967812
GO:0033344cholesterol efflux11162594
GO:0033700phospholipid efflux11162594
GO:0034370triglyceride-rich lipoprotein particle remodeling14967812
GO:0034374low-density lipoprotein particle remodeling8106353
GO:0034375high-density lipoprotein particle remodeling14967812
GO:0034380high-density lipoprotein particle assembly218942
GO:0034384high-density lipoprotein particle clearance10764676
GO:0042632cholesterol homeostasis14967812
GO:0043085positive regulation of catalytic activity14967812
GO:0043691reverse cholesterol transport14967812
GO:0045416positive regulation of interleukin-8 biosynthetic process11591715
GO:0046340diacylglycerol catabolic process14967812
GO:0050995negative regulation of lipid catabolic process14967812
GO:0050996positive regulation of lipid catabolic process8640403
GO:0060192negative regulation of lipase activity14967812
GO:0060621negative regulation of cholesterol import10764676
GO:0060695negative regulation of cholesterol transporter activity8106353


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Ligand binding site mutations for APOA2
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
 
: non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
F86F86LCOAD1
T95T95KHNSC1
E70,S68K69NUCEC1
A98A98DUCEC1
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 APOA2
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
T95T95K-0.7334953
A98A98D-0.57606346
F86F86L-0.50617635
S68K69N-0.42475589
E70K69N-0.42475589
(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 APOA2 from PDB

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Differential gene expression and gene-gene network for APOA2
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 APOA2 and the right PPI network was created from samples without mutations in the LBS of APOA2. 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 APOA2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0020445Hyperlipoproteinemia Type II1Biomarker, GeneticVariation

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

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Pharmacological information for APOA2
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.
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 APOA2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of APOA2
Multiple alignments for P02652 in multiple species
LBSAA sequence# speciesSpecies
A59SPELQAEAKSY2Homo sapiens, Pan troglodytes
A59PSEIQNQAKAY1Rattus norvegicus
A59TSEIQSQAKAY1Mus musculus
A59GSELQTQAKAY1Bos taurus
A61ELQAEAKSYFE2Homo sapiens, Pan troglodytes
A61EIQNQAKAYFQ1Rattus norvegicus
A61EIQSQAKAYFE1Mus musculus
A61ELQTQAKAYFE1Bos taurus
A79PLIKKAGTELV2Homo sapiens, Pan troglodytes
A79PFVQRTGTNLM1Rattus norvegicus
A79PLVRSAGTSLV1Mus musculus
A79PFFKKAGTDLL1Bos taurus
A98LGTQPATQ--2Homo sapiens, Pan troglodytes
A98PEEKPAPAAK1Rattus norvegicus
A98LEEKPAPAAK1Mus musculus
A98PKKQPATR--1Bos taurus
C29QAKEPCVESLV1Homo sapiens
C29QAAETDVQTLF1Rattus norvegicus
C29QADGPDMQSLF1Mus musculus
C29QAEESNLQSLV1Bos taurus
C29QAKEPCVDNLV1Pan troglodytes
D47TDYGKDLMEKV2Homo sapiens, Pan troglodytes
D47TDYGKDLMEKA2Rattus norvegicus, Mus musculus
D47ADYGKDLVEKA1Bos taurus
E31KEPCVESLVSQ1Homo sapiens
E31AETDVQTLFSQ1Rattus norvegicus
E31DGPDMQSLFTQ1Mus musculus
E31EESNLQSLVSQ1Bos taurus
E31KEPCVDNLVSQ1Pan troglodytes
E50GKDLMEKVKSP2Homo sapiens, Pan troglodytes
E50GKDLMEKAQPS1Rattus norvegicus
E50GKDLMEKAKTS1Mus musculus
E50GKDLVEKAKGS1Bos taurus
E56KVKSPELQAEA2Homo sapiens, Pan troglodytes
E56KAQPSEIQNQA1Rattus norvegicus
E56KAKTSEIQSQA1Mus musculus
E56KAKGSELQTQA1Bos taurus
E60PELQAEAKSYF2Homo sapiens, Pan troglodytes
E60SEIQNQAKAYF1Rattus norvegicus
E60SEIQSQAKAYF1Mus musculus
E60SELQTQAKAYF1Bos taurus
E70FEKSKEQLTPL2Homo sapiens, Pan troglodytes
E70FQNAQERLTPF1Rattus norvegicus
E70FEKTHEQLTPL1Mus musculus
E70FEKTQEELTPF1Bos taurus
E82KKAGTELVNFL2Homo sapiens, Pan troglodytes
E82QRTGTNLMDFL1Rattus norvegicus
E82RSAGTSLVNFF1Mus musculus
E82KKAGTDLLNFL1Bos taurus
E92LSYFVELGTQP1Homo sapiens
E92LSRLMSPEEKP1Rattus norvegicus
E92FSSLMNLEEKP1Mus musculus
E92LSSFIDPKKQP1Bos taurus
E92LSYFMELGTQP1Pan troglodytes
F38LVSQYFQTVTD2Homo sapiens, Pan troglodytes
F38LFSQYLQSLTD1Rattus norvegicus
F38LFTQYFQSMTD1Mus musculus
F38LVSQYFQTVAD1Bos taurus
F65EAKSYFEKSKE2Homo sapiens, Pan troglodytes
F65QAKAYFQNAQE1Rattus norvegicus
F65QAKAYFEKTHE1Mus musculus
F65QAKAYFEKTQE1Bos taurus
F86TELVNFLSYFV1Homo sapiens
F86TNLMDFLSRLM1Rattus norvegicus
F86TSLVNFFSSLM1Mus musculus
F86TDLLNFLSSFI1Bos taurus
F86TELVNFLSYFM1Pan troglodytes
F90NFLSYFVELGT1Homo sapiens
F90DFLSRLMSPEE1Rattus norvegicus
F90NFFSSLMNLEE1Mus musculus
F90NFLSSFIDPKK1Bos taurus
F90NFLSYFMELGT1Pan troglodytes
G45TVTDYGKDLME2Homo sapiens, Pan troglodytes
G45SLTDYGKDLME1Rattus norvegicus
G45SMTDYGKDLME1Mus musculus
G45TVADYGKDLVE1Bos taurus
G80LIKKAGTELVN2Homo sapiens, Pan troglodytes
G80FVQRTGTNLMD1Rattus norvegicus
G80LVRSAGTSLVN1Mus musculus
G80FFKKAGTDLLN1Bos taurus
G94YFVELGTQPAT1Homo sapiens
G94RLMSPEEKPAP1Rattus norvegicus
G94SLMNLEEKPAP1Mus musculus
G94SFIDPKKQPAT1Bos taurus
G94YFMELGTQPAT1Pan troglodytes
I76QLTPLIKKAGT2Homo sapiens, Pan troglodytes
I76RLTPFVQRTGT1Rattus norvegicus
I76QLTPLVRSAGT1Mus musculus
I76ELTPFFKKAGT1Bos taurus
K46VTDYGKDLMEK2Homo sapiens, Pan troglodytes
K46LTDYGKDLMEK1Rattus norvegicus
K46MTDYGKDLMEK1Mus musculus
K46VADYGKDLVEK1Bos taurus
K51KDLMEKVKSPE2Homo sapiens, Pan troglodytes
K51KDLMEKAQPSE1Rattus norvegicus
K51KDLMEKAKTSE1Mus musculus
K51KDLVEKAKGSE1Bos taurus
K53LMEKVKSPELQ2Homo sapiens, Pan troglodytes
K53LMEKAQPSEIQ1Rattus norvegicus
K53LMEKAKTSEIQ1Mus musculus
K53LVEKAKGSELQ1Bos taurus
K67KSYFEKSKEQL2Homo sapiens, Pan troglodytes
K67KAYFQNAQERL1Rattus norvegicus
K67KAYFEKTHEQL1Mus musculus
K67KAYFEKTQEEL1Bos taurus
K77LTPLIKKAGTE2Homo sapiens, Pan troglodytes
K77LTPFVQRTGTN1Rattus norvegicus
K77LTPLVRSAGTS1Mus musculus
K77LTPFFKKAGTD1Bos taurus
K78TPLIKKAGTEL2Homo sapiens, Pan troglodytes
K78TPFVQRTGTNL1Rattus norvegicus
K78TPLVRSAGTSL1Mus musculus
K78TPFFKKAGTDL1Bos taurus
L33PCVESLVSQYF1Homo sapiens
L33TDVQTLFSQYL1Rattus norvegicus
L33PDMQSLFTQYF1Mus musculus
L33SNLQSLVSQYF1Bos taurus
L33PCVDNLVSQYF1Pan troglodytes
L48DYGKDLMEKVK2Homo sapiens, Pan troglodytes
L48DYGKDLMEKAQ1Rattus norvegicus
L48DYGKDLMEKAK1Mus musculus
L48DYGKDLVEKAK1Bos taurus
L72KSKEQLTPLIK2Homo sapiens, Pan troglodytes
L72NAQERLTPFVQ1Rattus norvegicus
L72KTHEQLTPLVR1Mus musculus
L72KTQEELTPFFK1Bos taurus
L75EQLTPLIKKAG2Homo sapiens, Pan troglodytes
L75ERLTPFVQRTG1Rattus norvegicus
L75EQLTPLVRSAG1Mus musculus
L75EELTPFFKKAG1Bos taurus
L83KAGTELVNFLS2Homo sapiens, Pan troglodytes
L83RTGTNLMDFLS1Rattus norvegicus
L83SAGTSLVNFFS1Mus musculus
L83KAGTDLLNFLS1Bos taurus
L87ELVNFLSYFVE1Homo sapiens
L87NLMDFLSRLMS1Rattus norvegicus
L87SLVNFFSSLMN1Mus musculus
L87DLLNFLSSFID1Bos taurus
L87ELVNFLSYFME1Pan troglodytes
L93SYFVELGTQPA1Homo sapiens
L93SRLMSPEEKPA1Rattus norvegicus
L93SSLMNLEEKPA1Mus musculus
L93SSFIDPKKQPA1Bos taurus
L93SYFMELGTQPA1Pan troglodytes
M49YGKDLMEKVKS2Homo sapiens, Pan troglodytes
M49YGKDLMEKAQP1Rattus norvegicus
M49YGKDLMEKAKT1Mus musculus
M49YGKDLVEKAKG1Bos taurus
N85GTELVNFLSYF2Homo sapiens, Pan troglodytes
N85GTNLMDFLSRL1Rattus norvegicus
N85GTSLVNFFSSL1Mus musculus
N85GTDLLNFLSSF1Bos taurus
P55EKVKSPELQAE2Homo sapiens, Pan troglodytes
P55EKAQPSEIQNQ1Rattus norvegicus
P55EKAKTSEIQSQ1Mus musculus
P55EKAKGSELQTQ1Bos taurus
P74KEQLTPLIKKA2Homo sapiens, Pan troglodytes
P74QERLTPFVQRT1Rattus norvegicus
P74HEQLTPLVRSA1Mus musculus
P74QEELTPFFKKA1Bos taurus
P97ELGTQPATQ--2Homo sapiens, Pan troglodytes
P97SPEEKPAPAAK1Rattus norvegicus
P97NLEEKPAPAAK1Mus musculus
P97DPKKQPATR--1Bos taurus
Q36ESLVSQYFQTV1Homo sapiens
Q36QTLFSQYLQSL1Rattus norvegicus
Q36QSLFTQYFQSM1Mus musculus
Q36QSLVSQYFQTV1Bos taurus
Q36DNLVSQYFQTV1Pan troglodytes
Q71EKSKEQLTPLI2Homo sapiens, Pan troglodytes
Q71QNAQERLTPFV1Rattus norvegicus
Q71EKTHEQLTPLV1Mus musculus
Q71EKTQEELTPFF1Bos taurus
S35VESLVSQYFQT1Homo sapiens
S35VQTLFSQYLQS1Rattus norvegicus
S35MQSLFTQYFQS1Mus musculus
S35LQSLVSQYFQT1Bos taurus
S35VDNLVSQYFQT1Pan troglodytes
S63QAEAKSYFEKS2Homo sapiens, Pan troglodytes
S63QNQAKAYFQNA1Rattus norvegicus
S63QSQAKAYFEKT1Mus musculus
S63QTQAKAYFEKT1Bos taurus
S68SYFEKSKEQLT2Homo sapiens, Pan troglodytes
S68AYFQNAQERLT1Rattus norvegicus
S68AYFEKTHEQLT1Mus musculus
S68AYFEKTQEELT1Bos taurus
S88LVNFLSYFVEL1Homo sapiens
S88LMDFLSRLMSP1Rattus norvegicus
S88LVNFFSSLMNL1Mus musculus
S88LLNFLSSFIDP1Bos taurus
S88LVNFLSYFMEL1Pan troglodytes
T40SQYFQTVTDYG2Homo sapiens, Pan troglodytes
T40SQYLQSLTDYG1Rattus norvegicus
T40TQYFQSMTDYG1Mus musculus
T40SQYFQTVADYG1Bos taurus
T42YFQTVTDYGKD2Homo sapiens, Pan troglodytes
T42YLQSLTDYGKD1Rattus norvegicus
T42YFQSMTDYGKD1Mus musculus
T42YFQTVADYGKD1Bos taurus
T73SKEQLTPLIKK2Homo sapiens, Pan troglodytes
T73AQERLTPFVQR1Rattus norvegicus
T73THEQLTPLVRS1Mus musculus
T73TQEELTPFFKK1Bos taurus
T81IKKAGTELVNF2Homo sapiens, Pan troglodytes
T81VQRTGTNLMDF1Rattus norvegicus
T81VRSAGTSLVNF1Mus musculus
T81FKKAGTDLLNF1Bos taurus
T95FVELGTQPATQ1Homo sapiens
T95LMSPEEKPAPA1Rattus norvegicus
T95LMNLEEKPAPA1Mus musculus
T95FIDPKKQPATR1Bos taurus
T95FMELGTQPATQ1Pan troglodytes
V30AKEPCVESLVS1Homo sapiens
V30AAETDVQTLFS1Rattus norvegicus
V30ADGPDMQSLFT1Mus musculus
V30AEESNLQSLVS1Bos taurus
V30AKEPCVDNLVS1Pan troglodytes
V34CVESLVSQYFQ1Homo sapiens
V34DVQTLFSQYLQ1Rattus norvegicus
V34DMQSLFTQYFQ1Mus musculus
V34NLQSLVSQYFQ1Bos taurus
V34CVDNLVSQYFQ1Pan troglodytes
V41QYFQTVTDYGK2Homo sapiens, Pan troglodytes
V41QYLQSLTDYGK1Rattus norvegicus
V41QYFQSMTDYGK1Mus musculus
V41QYFQTVADYGK1Bos taurus
V52DLMEKVKSPEL2Homo sapiens, Pan troglodytes
V52DLMEKAQPSEI1Rattus norvegicus
V52DLMEKAKTSEI1Mus musculus
V52DLVEKAKGSEL1Bos taurus
V91FLSYFVELGTQ1Homo sapiens
V91FLSRLMSPEEK1Rattus norvegicus
V91FFSSLMNLEEK1Mus musculus
V91FLSSFIDPKKQ1Bos taurus
V91FLSYFMELGTQ1Pan troglodytes
Y37SLVSQYFQTVT1Homo sapiens
Y37TLFSQYLQSLT1Rattus norvegicus
Y37SLFTQYFQSMT1Mus musculus
Y37SLVSQYFQTVA1Bos taurus
Y37NLVSQYFQTVT1Pan troglodytes
Y44QTVTDYGKDLM2Homo sapiens, Pan troglodytes
Y44QSLTDYGKDLM1Rattus norvegicus
Y44QSMTDYGKDLM1Mus musculus
Y44QTVADYGKDLV1Bos taurus
Y64AEAKSYFEKSK2Homo sapiens, Pan troglodytes
Y64NQAKAYFQNAQ1Rattus norvegicus
Y64SQAKAYFEKTH1Mus musculus
Y64TQAKAYFEKTQ1Bos taurus
Y89VNFLSYFVELG1Homo sapiens
Y89MDFLSRLMSPE1Rattus norvegicus
Y89VNFFSSLMNLE1Mus musculus
Y89LNFLSSFIDPK1Bos taurus
Y89VNFLSYFMELG1Pan troglodytes


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