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 CA7
Gene summary
Basic gene Info.Gene symbolCA7
Gene namecarbonic anhydrase VII
CytomapUCSC genome browser: 16q22.1
Type of geneprotein-coding
DescriptionCA-VIIcarbonate dehydratase VIIcarbonic anhydrase 7carbonic dehydratase VII
Modification date20141207
dbXrefs MIM : 114770
Ensembl : ENSG00000168748
HPRD : 00263
Vega : OTTHUMG00000137524
ProteinUniProt: P43166
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CA7
BioGPS: 766
PathwayNCI Pathway Interaction Database: CA7
Pathway Commons: CA7
ContextiHOP: CA7
ligand binding site mutation search in PubMed: CA7
UCL Cancer Institute: CA7
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

Ligand binding site mutations for CA7

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 CA7
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 CA7 from PDB

Differential gene expression and gene-gene network for CA7
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 CA7 and the right PPI network was created from samples without mutations in the LBS of CA7. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for CA7
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

Pharmacological information for CA7
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
WithdrawnDB00311EthoxzolamideSmall molecule
ApprovedDB00703MethazolamideSmall molecule
Approved|vet_approvedDB00819AcetazolamideSmall molecule
Approved|investigationalDB00909ZonisamideSmall molecule
ApprovedDB01144DiclofenamideSmall molecule
InvestigationalDB08846Ellagic AcidSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of CA7 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of CA7
Multiple alignments for P43166 in multiple species
LBSAA sequence# speciesSpecies
A137TFGEAASAPDG1Homo sapiens
A137-----QAKDGS1Arabidopsis thaliana
A137TFGEAAAAPDG1Mus musculus
A137TLKEALSRPDG1Caenorhabditis elegans
A137---QGVEDPGK1Caenorhabditis elegans
F133KKYSTFGEAAS1Homo sapiens
F133---------QA1Arabidopsis thaliana
F133KKYSTFGEAAA1Mus musculus
F133REGLTLKEALS1Caenorhabditis elegans
F133-------QGVE1Caenorhabditis elegans
H121FPSELHLVHWN2Homo sapiens, Mus musculus
H121YPAELHLVH--2Caenorhabditis elegans, Caenorhabditis elegans
H121YAAELHMVH--1Arabidopsis thaliana
H96RLKQFHFHWGK1Homo sapiens
H96TLLQMHWH---1Arabidopsis thaliana
H96RLKQLHFHWGK1Mus musculus
H96KLAQFHLHWGQ1Caenorhabditis elegans
H96RLVQYHFHWGE1Caenorhabditis elegans
H98KQFHFHWGKKH1Homo sapiens
H98LQMHWH-----1Arabidopsis thaliana
H98KQLHFHWGKKR1Mus musculus
H98AQFHLHWGQND1Caenorhabditis elegans
H98VQYHFHWGEND1Caenorhabditis elegans
L200TYPGSLTTPPL2Homo sapiens, Mus musculus
L200RYIGSLTTPPC1Arabidopsis thaliana
L200RYEGSLTTPDC1Caenorhabditis elegans
L200RYEGSLTTPPC1Caenorhabditis elegans
P203GSLTTPPLSES2Homo sapiens, Mus musculus
P203GSLTTPPCSEN1Arabidopsis thaliana
P203GSLTTPDCSEA1Caenorhabditis elegans
P203GSLTTPPCSEI1Caenorhabditis elegans
Q94PYRLKQFHFHW1Homo sapiens
Q94NYTLLQMHWH-1Arabidopsis thaliana
Q94PYRLKQLHFHW1Mus musculus
Q94RYKLAQFHLHW1Caenorhabditis elegans
Q94VYRLVQYHFHW1Caenorhabditis elegans
T201YPGSLTTPPLS2Homo sapiens, Mus musculus
T201YIGSLTTPPCS1Arabidopsis thaliana
T201YEGSLTTPDCS1Caenorhabditis elegans
T201YEGSLTTPPCS1Caenorhabditis elegans
T202PGSLTTPPLSE2Homo sapiens, Mus musculus
T202IGSLTTPPCSE1Arabidopsis thaliana
T202EGSLTTPDCSE1Caenorhabditis elegans
T202EGSLTTPPCSE1Caenorhabditis elegans
V123SELHLVHWNAK2Homo sapiens, Mus musculus
V123AELHMVH----1Arabidopsis thaliana
V123AELHLVH--VR1Caenorhabditis elegans
V123AELHLVH----1Caenorhabditis elegans
W211SESVTWIVLRE2Homo sapiens, Mus musculus
W211SENVSWTILGK1Arabidopsis thaliana
W211SEAVIWTVLAE1Caenorhabditis elegans
W211SEIVTWTIFTE1Caenorhabditis elegans

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