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 CA13
Gene summary
Basic gene Info.Gene symbolCA13
Gene namecarbonic anhydrase XIII
CytomapUCSC genome browser: 8q21.2
Type of geneprotein-coding
DescriptionCA-XIIIcarbonate dehydratase XIIIcarbonic anhydrase 13
Modification date20141207
dbXrefs MIM : 611436
Ensembl : ENSG00000185015
HPRD : 12992
Vega : OTTHUMG00000164940
ProteinUniProt: Q8N1Q1
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CA13
BioGPS: 377677
PathwayNCI Pathway Interaction Database: CA13
Pathway Commons: CA13
ContextiHOP: CA13
ligand binding site mutation search in PubMed: CA13
UCL Cancer Institute: CA13
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

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

Ligand binding site mutations for CA13

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 CA13
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 CA13 from PDB

Differential gene expression and gene-gene network for CA13
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 CA13 and the right PPI network was created from samples without mutations in the LBS of CA13. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for CA13
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

Pharmacological information for CA13

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
Approved|investigationalDB00909ZonisamideSmall molecule
ExperimentalDB07115N-(4-chlorobenzyl)-N-methylbenzene-1,4-disulfonamideSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of CA13 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of CA13
Multiple alignments for Q8N1Q1 in multiple species
LBSAA sequence# speciesSpecies
A136SFVEAAHEPDG1Homo sapiens
A136NFGEAASKPDG1Danio rerio
A136SFVEAAHESDG1Mus musculus
F132DKYPSFVEAAH2Homo sapiens, Mus musculus
F132-KYPNFGEAAS1Danio rerio
H120YAAELHVVHWN2Homo sapiens, Mus musculus
H120FPCELHLVHWN1Danio rerio
H137FVEAAHEPDGL1Homo sapiens
H137FGEAASKPDGL1Danio rerio
H137FVEAAHESDGL1Mus musculus
H65ISNSGHSFNVD2Homo sapiens, Mus musculus
H65ILNNGHSFQVD1Danio rerio
H95RLRQVHLHWGS1Homo sapiens
H95RLRQFHFHWGS1Danio rerio
H95RLRQFHLHWGS1Mus musculus
H97RQVHLHWGSAD1Homo sapiens
H97RQFHFHWGSSD1Danio rerio
H97RQFHLHWGSAD1Mus musculus
I59PSSAKIISNSG1Homo sapiens
I59PATTKSILNNG1Danio rerio
I59PASAKIISNSG1Mus musculus
K58DPSSAKIISNS1Homo sapiens
K58DPATTKSILNN1Danio rerio
K58DPASAKIISNS1Mus musculus
L142HEPDGLAVLGV1Homo sapiens
L142SKPDGLAVVGV1Danio rerio
L142HESDGLAVLGV1Mus musculus
L199TYPGSLTVPPL2Homo sapiens, Mus musculus
L199TYEGSLTTPPL1Danio rerio
L205TVPPLLESVTW2Homo sapiens, Mus musculus
L205TTPPLLESVTW1Danio rerio
N68SGHSFNVDFDD2Homo sapiens, Mus musculus
N68NGHSFQVDFVD1Danio rerio
P203SLTVPPLLESV2Homo sapiens, Mus musculus
P203SLTTPPLLESV1Danio rerio
Q93SYRLRQVHLHW1Homo sapiens
Q93IYRLRQFHFHW1Danio rerio
Q93NYRLRQFHLHW1Mus musculus
R176KGKQTRFTNFD2Homo sapiens, Mus musculus
R176KGRQTTFANFD1Danio rerio
R92GSYRLRQVHLH1Homo sapiens
R92GIYRLRQFHFH1Danio rerio
R92GNYRLRQFHLH1Mus musculus
S63KIISNSGHSFN2Homo sapiens, Mus musculus
S63KSILNNGHSFQ1Danio rerio
T200YPGSLTVPPLL2Homo sapiens, Mus musculus
T200YEGSLTTPPLL1Danio rerio
V122AELHVVHWNSD2Homo sapiens, Mus musculus
V122CELHLVHWNT-1Danio rerio
V133KYPSFVEAAHE2Homo sapiens, Mus musculus
V133KYPNFGEAASK1Danio rerio
V144PDGLAVLGVFL1Homo sapiens
V144PDGLAVVGVFL1Danio rerio
V144SDGLAVLGVFL1Mus musculus
V201PGSLTVPPLLE2Homo sapiens, Mus musculus
V201EGSLTTPPLLE1Danio rerio
V208PLLESVTWIVL3Homo sapiens, Danio rerio, Mus musculus
W210LESVTWIVLKQ2Homo sapiens, Mus musculus
W210LESVTWIVLKE1Danio rerio
W6MSRLSWGYREH1Homo sapiens
W6MAH-AWGYGPA1Danio rerio
W6MARLSWGYGEH1Mus musculus

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