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 S100A12
Gene summary
Basic gene Info.Gene symbolS100A12
Gene nameS100 calcium binding protein A12
CytomapUCSC genome browser: 1q21
Type of geneprotein-coding
DescriptionEN-RAGES100 calcium-binding protein A12 (calgranulin C)calcitermincalcium-binding protein in amniotic fluid 1calgranulin Ccalgranulin-Cextracellular newly identified RAGE-binding proteinmigration inhibitory factor-related protein 6neutrophil S100
Modification date20141222
dbXrefs MIM : 603112
Ensembl : ENSG00000163221
HPRD : 04383
Vega : OTTHUMG00000013127
ProteinUniProt: P80511
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_S100A12
BioGPS: 6283
PathwayNCI Pathway Interaction Database: S100A12
KEGG: S100A12
Pathway Commons: S100A12
ContextiHOP: S100A12
ligand binding site mutation search in PubMed: S100A12
UCL Cancer Institute: S100A12
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0006805xenobiotic metabolic process11522286
GO:0043123positive regulation of I-kappaB kinase/NF-kappaB signaling15033494
GO:0050832defense response to fungus11522286

Ligand binding site mutations for S100A12

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

Protein structure related information for S100A12
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
(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 S100A12 from PDB

Differential gene expression and gene-gene network for S100A12
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 S100A12 and the right PPI network was created from samples without mutations in the LBS of S100A12. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for S100A12
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0026636Mouth Diseases1Biomarker

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

Pharmacological information for S100A12
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
ApprovedDB00768OlopatadineSmall molecule
Approved|investigationalDB01025AmlexanoxSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of S100A12 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of S100A12
Multiple alignments for P80511 in multiple species
LBSAA sequence# speciesSpecies

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