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mutLBSgeneDB |
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| Gene summary for CA9 |
 Gene summary |
| Basic gene Info. | Gene symbol | CA9 |
| Gene name | carbonic anhydrase IX | |
| Synonyms | CAIX|MN | |
| Cytomap | UCSC genome browser: 9p13.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001216.2, | |
| Description | CA-IXP54/58NRCC-associated antigen G250RCC-associated protein G250carbonate dehydratase IXcarbonic anhydrase 9carbonic dehydratasemembrane antigen MNpMW1renal cell carcinoma-associated antigen G250 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 603179 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000107159 | ||
| HPRD : 04417 | ||
| Vega : OTTHUMG00000021029 | ||
| Protein | UniProt: Q16790 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CA9 | |
| BioGPS: 768 | ||
| Pathway | NCI Pathway Interaction Database: CA9 | |
| KEGG: CA9 | ||
| REACTOME: CA9 | ||
| Pathway Commons: CA9 | ||
| Context | iHOP: CA9 | |
| ligand binding site mutation search in PubMed: CA9 | ||
| UCL Cancer Institute: CA9 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to 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 CA9 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | H251 | H251N | LUAD | 1 | T333,P335 | P334L | LUAD | 1 | P335 | A337V | LUAD | 1 | H251 | E249K | 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 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 |
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| 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 | H251 | E249K | -1.2953329 | T333 | P334L | -0.72285049 | P335 | P334L | -0.72285049 | H251 | H251N | -0.70551737 | P335 | A337V | -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) |
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| Phenotype information for CA9 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0003130 | Anoxia | 11 | AlteredExpression, Biomarker |
| umls:C1176475 | Carcinoma, Ductal | 3 | Biomarker |
| umls:C0007124 | Carcinoma, Intraductal, Noninfiltrating | 2 | Biomarker |
| umls:C0023473 | Leukemia, Myelogenous, Chronic, BCR-ABL Positive | 1 | Biomarker |
| umls:C0002793 | Anaplasia | 1 | Biomarker |
| umls:C0020542 | Hypertension, Pulmonary | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype 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. |
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| Gene-centered drug-gene interaction network |
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| 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 | DB05304 | WX-G250 | Small molecule |  |
| Investigational | DB08846 | Ellagic Acid | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of CA9 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of CA9 |
| Multiple alignments for Q16790 in multiple species |
| LBS | AA sequence | # species | Species |
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