mutLBSgeneDB |
Gene summary for CA12 |
Gene summary |
Basic gene Info. | Gene symbol | CA12 |
Gene name | carbonic anhydrase XII | |
Synonyms | CAXII|HsT18816 | |
Cytomap | UCSC genome browser: 15q22 | |
Type of gene | protein-coding | |
RefGenes | NM_001218.4, NM_001293642.1,NM_206925.2, | |
Description | CA-XIIcarbonate dehydratase XIIcarbonic anhydrase 12carbonic dehydratasetumor antigen HOM-RCC-3.1.3 | |
Modification date | 20141207 | |
dbXrefs | MIM : 603263 | |
HGNC : HGNC | ||
HPRD : 04464 | ||
Protein | UniProt: O43570 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_CA12 | |
BioGPS: 771 | ||
Pathway | NCI Pathway Interaction Database: CA12 | |
KEGG: CA12 | ||
REACTOME: CA12 | ||
Pathway Commons: CA12 | ||
Context | iHOP: CA12 | |
ligand binding site mutation search in PubMed: CA12 | ||
UCL Cancer Institute: CA12 | ||
Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO Term | PubMed ID |
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Ligand binding site mutations for CA12 |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | H121,H119 | L120M | COAD | 1 | S161 | N162S | COAD | 1 | L225 | G223V | LUSC | 1 | N231 | P232T | UCEC | 1 |
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 CA12 |
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. |
LBS | AAchange of nsSNV | Relative stability change | L225 | G223V | 0.11721197 | H119 | L120M | -1.3647175 | H121 | L120M | -1.3647175 | N231 | P232T | -0.55237517 | S161 | N162S | -0.30512708 |
(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 CA12 from PDB |
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Differential gene expression and gene-gene network for CA12 |
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) |
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Phenotype information for CA12 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C1840437 | HYPERCHLORHIDROSIS, ISOLATED | 1 | Biomarker, GeneticVariation |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for CA12 |
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 status | DrugBank ID | Name | Type | Drug structure |
Approved | DB00562 | Benzthiazide | Small molecule | |
Approved | DB00774 | Hydroflumethiazide | Small molecule | |
Approved|investigational | DB00909 | Zonisamide | Small molecule | |
Approved|vet_approved | DB00999 | Hydrochlorothiazide | Small molecule | |
Investigational | DB08846 | Ellagic Acid | Small molecule |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of CA12 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 1jcz | A | H119 | ZN | ZINC(2+) | 1jcz | B | H119 | ZN | ZINC(2+) | 1jd0 | A | H119 | AZM | ACETAZOLAMIDE | 1jd0 | A | H119 | ZN | ZINC(2+) | 1jd0 | B | H119 | AZM | ACETAZOLAMIDE | 1jd0 | B | H119 |
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Conservation information for LBS of CA12 |
Multiple alignments for O43570 in multiple species |
LBS | AA sequence | # species | Species |
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