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 CA9
Gene summary
Basic gene Info.Gene symbolCA9
Gene namecarbonic anhydrase IX
SynonymsCAIX|MN
CytomapUCSC genome browser: 9p13.3
Type of geneprotein-coding
RefGenesNM_001216.2,
DescriptionCA-IXP54/58NRCC-associated antigen G250RCC-associated protein G250carbonate dehydratase IXcarbonic anhydrase 9carbonic dehydratasemembrane antigen MNpMW1renal cell carcinoma-associated antigen G250
Modification date20141222
dbXrefs MIM : 603179
HGNC : HGNC
Ensembl : ENSG00000107159
HPRD : 04417
Vega : OTTHUMG00000021029
ProteinUniProt: Q16790
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CA9
BioGPS: 768
PathwayNCI Pathway Interaction Database: CA9
KEGG: CA9
REACTOME: CA9
Pathway Commons: CA9
ContextiHOP: CA9
ligand binding site mutation search in PubMed: CA9
UCL Cancer Institute: CA9
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


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Ligand binding site mutations for CA9

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
H251H251NLUAD1
T333,P335P334LLUAD1
P335A337VLUAD1
H251E249KUCEC1
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 CA9
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
H251E249K-1.2953329
T333P334L-0.72285049
P335P334L-0.72285049
H251H251N-0.70551737
P335A337V-0.66430955
(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 CA9 from PDB

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Differential gene expression and gene-gene network for CA9
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 CA9 and the right PPI network was created from samples without mutations in the LBS of CA9. 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 CA9
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0003130Anoxia11AlteredExpression, Biomarker
umls:C1176475Carcinoma, Ductal3Biomarker
umls:C0007124Carcinoma, Intraductal, Noninfiltrating2Biomarker
umls:C0023473Leukemia, Myelogenous, Chronic, BCR-ABL Positive1Biomarker
umls:C0002793Anaplasia1Biomarker
umls:C0020542Hypertension, Pulmonary1Biomarker

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

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Pharmacological information for CA9
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
ApprovedDB00562BenzthiazideSmall molecule
ApprovedDB00774HydroflumethiazideSmall molecule
Approved|investigationalDB00909ZonisamideSmall molecule
Approved|vet_approvedDB00999HydrochlorothiazideSmall molecule
InvestigationalDB05304WX-G250Small molecule
InvestigationalDB08846Ellagic AcidSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of CA9 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of CA9
Multiple alignments for Q16790 in multiple species
LBSAA sequence# speciesSpecies


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