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 ANXA2
Gene summary
Basic gene Info.Gene symbolANXA2
Gene nameannexin A2
SynonymsANX2|ANX2L4|CAL1H|HEL-S-270|LIP2|LPC2|LPC2D|P36|PAP-IV
CytomapUCSC genome browser: 15q22.2
Type of geneprotein-coding
RefGenesNM_001002857.1,
NM_001002858.2,NM_001136015.2,NM_004039.2,
Descriptionannexin IIannexin-2calpactin I heavy chaincalpactin I heavy polypeptidecalpactin-1 heavy chainchromobindin 8chromobindin-8epididymis secretory protein Li 270lipocortin IIplacental anticoagulant protein IVprotein I
Modification date20141207
dbXrefs MIM : 151740
HGNC : HGNC
Ensembl : ENSG00000182718
HPRD : 01061
Vega : OTTHUMG00000132763
ProteinUniProt: P07355
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ANXA2
BioGPS: 302
PathwayNCI Pathway Interaction Database: ANXA2
KEGG: ANXA2
REACTOME: ANXA2
Pathway Commons: ANXA2
ContextiHOP: ANXA2
ligand binding site mutation search in PubMed: ANXA2
UCL Cancer Institute: ANXA2
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:0031340positive regulation of vesicle fusion2138016
GO:0036035osteoclast development7961821
GO:0043086negative regulation of catalytic activity3013422
GO:0051290protein heterotetramerization23091277


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Ligand binding site mutations for ANXA2
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
T123,E125D124NCOAD2
E6E6KCOAD1
T123T123POV1
M118S117FSKCM1
E53T55ASTAD1
D162S161LUCEC1
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 ANXA2
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
T123T123P-1.21394
M118S117F-1.1631412
E53T55A-0.80617686
D162S161L-0.65254699
E6E6K-0.37644006
T123D124N-0.11946242
E125D124N-0.11946242
(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 ANXA2 from PDB
PDB IDPDB titlePDB structure
2HYVHuman Annexin A2 with heparin hexasaccharide bound

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Differential gene expression and gene-gene network for ANXA2
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 ANXA2 and the right PPI network was created from samples without mutations in the LBS of ANXA2. 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 ANXA2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0007137Carcinoma, Squamous Cell4Biomarker
umls:C0023467Leukemia, Myeloid, Acute3Biomarker
umls:C0023903Liver Neoplasms2Biomarker
umls:C0029456Osteoporosis2Biomarker
umls:C0024667Mammary Neoplasms, Animal1Biomarker
umls:C0026640Mouth Neoplasms1Biomarker
umls:C0027626Neoplasm Invasiveness1Biomarker
umls:C0043094Weight Gain1Biomarker

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

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Pharmacological information for ANXA2
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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ApprovedDB00031TenecteplaseBiotech

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ANXA2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
CACALCIUM(2+)1xjlAE53
CACALCIUM(2+)1xjlBE53
CACALCIUM(2+)1xjlBM118 D162
CACALCIUM(2+)1xjlAM118 T123 D162
CACALCIUM(2+)1xjlAT123 E125
CACALCIUM(2+)1xjlBT123 E125


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Conservation information for LBS of ANXA2
Multiple alignments for P07355 in multiple species
LBSAA sequence# speciesSpecies
D162KDIISDTSGDF4Homo sapiens, Gallus gallus, Mus musculus, Canis lupus familiaris
D162KDIISDTSGEF1Rattus norvegicus
D162KDIVSDTSGDF1Bos taurus
D322YYIQQDTKGDY4Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus
D322YFIQQDTKGDY2Gallus gallus, Rattus norvegicus
D326QDTKGDYQKAL5Homo sapiens, Rattus norvegicus, Mus musculus, Canis lupus familiaris, Bos taurus
D326QDTKGDYQRAL1Gallus gallus
E125GLGTDEDSLIE5Homo sapiens, Rattus norvegicus, Mus musculus, Canis lupus familiaris, Bos taurus
E125GLGTDEDTLIE1Gallus gallus
E247ESIKKEVKGDL4Gallus gallus, Mus musculus, Canis lupus familiaris, Bos taurus
E247ESIRKEVKGDL2Homo sapiens, Rattus norvegicus
E253VKGDLENAFLN6Homo sapiens, Gallus gallus, Rattus norvegicus, Mus musculus, Canis lupus familiaris, Bos taurus
E53TKGVDEVTIVN5Homo sapiens, Rattus norvegicus, Mus musculus, Canis lupus familiaris, Bos taurus
E53TKGVDEVTIIN1Gallus gallus
E6MSTVHEILCKL5Homo sapiens, Rattus norvegicus, Mus musculus, Canis lupus familiaris, Bos taurus
E6MSTVHEILSKL1Gallus gallus
E96LSGHLETVILG4Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus
E96LSGHLEAVILG1Gallus gallus
E96LSGHLETVMLG1Rattus norvegicus
G120KASMKGLGTDE5Homo sapiens, Rattus norvegicus, Mus musculus, Canis lupus familiaris, Bos taurus
G120KAAMKGLGTDE1Gallus gallus
G122SMKGLGTDEDS5Homo sapiens, Rattus norvegicus, Mus musculus, Canis lupus familiaris, Bos taurus
G122AMKGLGTDEDT1Gallus gallus
G202DLYDAGVKRKG3Homo sapiens, Canis lupus familiaris, Bos taurus
G202ELYDAGVKRKG3Gallus gallus, Rattus norvegicus, Mus musculus
G207GVKRKGTDVPK6Homo sapiens, Gallus gallus, Rattus norvegicus, Mus musculus, Canis lupus familiaris, Bos taurus
G280YDSMKGKGTRD6Homo sapiens, Gallus gallus, Rattus norvegicus, Mus musculus, Canis lupus familiaris, Bos taurus
G282SMKGKGTRDKV6Homo sapiens, Gallus gallus, Rattus norvegicus, Mus musculus, Canis lupus familiaris, Bos taurus
G325QQDTKGDYQKA5Homo sapiens, Rattus norvegicus, Mus musculus, Canis lupus familiaris, Bos taurus
G325QQDTKGDYQRA1Gallus gallus
G50AIKTKGVDEVT5Homo sapiens, Gallus gallus, Rattus norvegicus, Canis lupus familiaris, Bos taurus
G50AVKTKGVDEVT1Mus musculus
G93KSALSGHLETV5Homo sapiens, Rattus norvegicus, Mus musculus, Canis lupus familiaris, Bos taurus
G93KSALSGHLEAV1Gallus gallus
H94SALSGHLETVI4Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus
H94SALSGHLEAVI1Gallus gallus
H94SALSGHLETVM1Rattus norvegicus
K10HEILCKLSLEG5Homo sapiens, Rattus norvegicus, Mus musculus, Canis lupus familiaris, Bos taurus
K10HEILSKLSLEG1Gallus gallus
K119LKASMKGLGTD5Homo sapiens, Rattus norvegicus, Mus musculus, Canis lupus familiaris, Bos taurus
K119LKAAMKGLGTD1Gallus gallus
K206AGVKRKGTDVP6Homo sapiens, Gallus gallus, Rattus norvegicus, Mus musculus, Canis lupus familiaris, Bos taurus
K249IKKEVKGDLEN4Gallus gallus, Mus musculus, Canis lupus familiaris, Bos taurus
K249IRKEVKGDLEN2Homo sapiens, Rattus norvegicus
K279LYDSMKGKGTR6Homo sapiens, Gallus gallus, Rattus norvegicus, Mus musculus, Canis lupus familiaris, Bos taurus
K281DSMKGKGTRDK6Homo sapiens, Gallus gallus, Rattus norvegicus, Mus musculus, Canis lupus familiaris, Bos taurus
K324IQQDTKGDYQK5Homo sapiens, Rattus norvegicus, Mus musculus, Canis lupus familiaris, Bos taurus
K324IQQDTKGDYQR1Gallus gallus
K88LASALKSALSG3Homo sapiens, Canis lupus familiaris, Bos taurus
K88LSAALKSALSG1Gallus gallus
K88LPSAMKSALSG1Rattus norvegicus
K88LPSALKSALSG1Mus musculus
L11EILCKLSLEGD5Homo sapiens, Rattus norvegicus, Mus musculus, Canis lupus familiaris, Bos taurus
L11EILSKLSLEGD1Gallus gallus
L121ASMKGLGTDED5Homo sapiens, Rattus norvegicus, Mus musculus, Canis lupus familiaris, Bos taurus
L121AAMKGLGTDED1Gallus gallus
L13LCKLSLEGDHS5Homo sapiens, Rattus norvegicus, Mus musculus, Canis lupus familiaris, Bos taurus
L13LSKLSLEGDHS1Gallus gallus
L8TVHEILCKLSL5Homo sapiens, Rattus norvegicus, Mus musculus, Canis lupus familiaris, Bos taurus
L8TVHEILSKLSL1Gallus gallus
L91ALKSALSGHLE5Homo sapiens, Gallus gallus, Mus musculus, Canis lupus familiaris, Bos taurus
L91AMKSALSGHLE1Rattus norvegicus
M118ELKASMKGLGT5Homo sapiens, Rattus norvegicus, Mus musculus, Canis lupus familiaris, Bos taurus
M118ELKAAMKGLGT1Gallus gallus
M278RLYDSMKGKGT6Homo sapiens, Gallus gallus, Rattus norvegicus, Mus musculus, Canis lupus familiaris, Bos taurus
R205DAGVKRKGTDV6Homo sapiens, Gallus gallus, Rattus norvegicus, Mus musculus, Canis lupus familiaris, Bos taurus
R245MLESIKKEVKG4Gallus gallus, Mus musculus, Canis lupus familiaris, Bos taurus
R245MLESIRKEVKG2Homo sapiens, Rattus norvegicus
S12ILCKLSLEGDH5Homo sapiens, Rattus norvegicus, Mus musculus, Canis lupus familiaris, Bos taurus
S12ILSKLSLEGDH1Gallus gallus
S92LKSALSGHLET4Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus
S92LKSALSGHLEA1Gallus gallus
S92MKSALSGHLET1Rattus norvegicus
T123MKGLGTDEDSL5Homo sapiens, Rattus norvegicus, Mus musculus, Canis lupus familiaris, Bos taurus
T123MKGLGTDEDTL1Gallus gallus
T283MKGKGTRDKVL6Homo sapiens, Gallus gallus, Rattus norvegicus, Mus musculus, Canis lupus familiaris, Bos taurus
T323YIQQDTKGDYQ4Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus
T323FIQQDTKGDYQ2Gallus gallus, Rattus norvegicus
V203LYDAGVKRKGT6Homo sapiens, Gallus gallus, Rattus norvegicus, Mus musculus, Canis lupus familiaris, Bos taurus
V248SIKKEVKGDLE4Gallus gallus, Mus musculus, Canis lupus familiaris, Bos taurus
V248SIRKEVKGDLE2Homo sapiens, Rattus norvegicus
V51IKTKGVDEVTI5Homo sapiens, Gallus gallus, Rattus norvegicus, Canis lupus familiaris, Bos taurus
V51VKTKGVDEVTI1Mus musculus
Y327DTKGDYQKALL5Homo sapiens, Rattus norvegicus, Mus musculus, Canis lupus familiaris, Bos taurus
Y327DTKGDYQRALL1Gallus gallus


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